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Pediatric-Endocrinology

Pediatric-Endocrinology

Stay up to date on the latest medical knowledge with this Pediatric-Endocrinology activity. In this online self-assessment activity, you'll read our reference articles and test your knowledge with 188 activities in Pediatric-Endocrinology for 173.5 total CME hours.


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Featured Article Activities

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Velocardiofacial Syndrome

Velocardiofacial syndrome, also known as Di George syndrome or chromosome 22q11.2 syndrome, is the most common microdele ...
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Hours: 0.75

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Down Syndrome

Down syndrome (trisomy 21) is a genetic disorder caused by the presence of all or a portion of a third chromosome 21. Pa ...
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Hours: 1

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Female Athlete Triad

Female athletes often complain of low energy availability, which is defined as energy from oral nutrition less energy us ...
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Hours: 0.75

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ViPoma

Vasoactive intestinal peptide tumors (VIPoma) are neuroendocrine tumors secreting vasoactive intestinal peptide (VIP) in ...
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Hours: 0.75

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Enuresis

Enuresis is a common childhood disorder seen in outpatient settings. Enuresis can be promptly treated if cases are ident ...
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Hours: 1

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Anosmia

Anosmia is the inability to perceive smell/odor. It can be temporary or permanent and acquired or congenital. There are ...
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Pediatric-Endocrinology Activities

Title Description Hours Questions
21 Hydroxylase Deficiency 21-hydroxylase deficiency is an autosomal recessive disorder caused by a deficiency in one of the enzymes required for the synthesis of cortisol in th ... Read the Article 0.75 5 Activity MD/PA Activity DO
5 Alpha Reductase Deficiency This activity reviews 5-alpha-reductase deficiency, an important cause of ambiguous genitalia in children. Initially, the phenotype of children with 5 ... Read the Article 0.75 5 Activity MD/PA Activity DO
Abetalipoproteinemia Abetalipoproteinemia is a rare autosomal recessive disorder marked by low or absent levels of plasma cholesterol, low-density lipoproteins and very-lo ... Read the Article 1 8 Activity MD/PA Activity DO
Achlorhydria Achlorhydria is a condition in which the stomach does not produce hydrochloric acid, one of the components of gastric acid. Hydrochloric acid plays an ... Read the Article 1 9 Activity MD/PA Activity DO
Achondroplasia Achondroplasia is the most common skeletal dysplasia found in humans, accounting for 90% of cases of disproportionate short stature. It is caused by a ... Read the Article 1.25 11 Activity MD/PA Activity DO
Acromegaly Acromegaly is a disorder caused by excessive production of growth hormone from the anterior pituitary gland, resulting in excessive growth of body tis ... Read the Article 1.25 17 Activity MD/PA Activity DO
Addison Disease Though Addison disease is a relatively rare condition, it can have devastating consequences if not diagnosed and managed appropriately. Often the insi ... Read the Article 1.25 17 Activity MD/PA Activity DO
Adrenal Crisis Adrenal crisis is an acute life-threatening condition precipitated by an internal or external process in the setting of known or unknown adrenal insuf ... Read the Article 1 9 Activity MD/PA Activity DO
Adrenal Hypoplasia Adrenal hypoplasia is a condition in which there is underdevelopment or hypotrophy of the adrenal cortex due to several clinical conditions. It falls ... Read the Article 0.75 5 Activity MD/PA Activity DO
Adrenal Insufficiency Adrenal glands produce hormones which are necessary for normal body functioning, deficiency of these hormones is called adrenal insufficiency. Adrenal ... Read the Article 1 11 Activity MD/PA Activity DO
Adrenoleukodystrophy Adrenoleukodystrophy is a peroxisomal disorder resulting from abnormal metabolism of the very-long-chain fatty acids (VLCFA). It is classified into di ... Read the Article 1.25 13 Activity MD/PA Activity DO
Albright Hereditary Osteodystrophy Albright hereditary osteodystrophy (AHO) is a hereditary condition due to inactivating GNAS1 gene mutation. AHO is characterized by a round face, shor ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ambiguous Genitalia And Disorders of Sexual Differentiation Infants born with a disorder of sex development (DSD) prompt multiple medical, surgical, ethical, psychosocial, and physical issues for patients and t ... Read the Article 1 7 Activity MD/PA Activity DO
Anabolic Steroids Anabolic steroids (also known as androgenic steroids) are synthetic derivatives of testosterone. Legal, as well as the illegal use of anabolic steroid ... Read the Article 0.75 5 Activity MD/PA Activity DO
Androgen Insensitivity Syndrome Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders and results in varying phenotypes. These disorders of and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Anorexia Nervosa Anorexia nervosa is defined by a restriction of energy intake relative to requirements, which leads to significantly low body weight. Patients with th ... Read the Article 1.25 15 Activity MD/PA Activity DO
Anosmia Anosmia is the inability to perceive smell/odor. It can be temporary or permanent and acquired or congenital. There are many causes. Neurological caus ... Read the Article 0.75 6 Activity MD/PA Activity DO
Antilipemic Agent Bile Acid Sequestrants Bile acid sequestrants are FDA approved to manage hypercholesterolemia. They can be used in combination with HMG-CoA reductase inhibitors (statins) or ... Read the Article 1 8 Activity MD/PA Activity DO
Arginase Deficiency Argininemia is an autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation. It is a disorder first noticed in children w ... Read the Article 0.75 6 Activity MD/PA Activity DO
Aspart Insulin Insulin aspart is a rapid-acting, human insulin analog that is FDA approved for the treatment of type-1 and type-2 diabetes mellitus to improve glycem ... Read the Article 0.75 6 Activity MD/PA Activity DO
Ataxia Telangiectasia Ataxia telangiectasia (Louis-Bar Syndrome) is a rare autosomal recessive condition characterized by cutaneous telangiectasias, cerebellar atrophy with ... Read the Article 1.25 13 Activity MD/PA Activity DO
Bilirubinuria Bilirubinuria is the presence of bilirubin in the urine, usually detected while performing a routine urine dipstick test. Its presence is abnormal and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Biotin Deficiency Biotin is a B-complex vitamin that serves as an essential coenzyme for five carboxylases: pyruvate carboxylase, 3-methylcrotonyl-CoA carboxylase, prop ... Read the Article 0.75 6 Activity MD/PA Activity DO
Biotinidase Deficiency Biotin acts as a coenzyme for four carboxylation enzymes in the body: 3-methylcrontonyl-CoA carboxylase (MCC), pyruvate carboxylase (PC), acetyl-CoA c ... Read the Article 0.75 5 Activity MD/PA Activity DO
Bone Age Bone age assessment can be of utmost importance in various complicated situations involving medical, surgical, forensic, and legal issues. Apart from ... Read the Article 0.75 4 Activity MD/PA Activity DO
Bullosis Diabeticorum Bullosis diabeticorum (BD), also known as diabetic bullae or bullous eruption of diabetes mellitus, is a specific type of skin lesion occurring in pat ... Read the Article 0.75 4 Activity MD/PA Activity DO
C 17 Hydroxylase Deficiency Congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by a deficiency of one of the enzymes required for the ste ... Read the Article 0.75 6 Activity MD/PA Activity DO
Carnitine Deficiency Carnitine deficiency is a condition characterized by low carnitine levels in the body. Carnitine deficiency could be primary (due to defect in carniti ... Read the Article 0.75 5 Activity MD/PA Activity DO
Celiac Disease Celiac disease, also known as gluten-sensitive enteropathy, is an autoimmune disease of the small intestine. Celiac disease is a condition in which th ... Read the Article 1.5 24 Activity MD/PA Activity DO
Cerebral Edema The most basic definition of cerebral edema is swelling of the brain. It is a relatively common phenomenon with numerous etiologies. Cerebral edema c ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cerebral Salt Wasting Syndrome Cerebral salt wasting (CSW) is a potential cause of hyponatremia in the setting of disease of the central nervous system (CNS). Cerebral salt wasting ... Read the Article 1 7 Activity MD/PA Activity DO
Chediak Higashi Syndrome Chediak Higashi syndrome (CHS) is an autosomal recessive disorder that is characterized by easy bruising, oculocutaneous albinism and recurrent pyogen ... Read the Article 0.75 5 Activity MD/PA Activity DO
Child Abuse and Neglect The World Health Organization (WHO) defines child maltreatment as “all forms of physical and emotional ill-treatment, sexual abuse, neglect, and explo ... Read the Article 1.25 15 Activity MD/PA Activity DO
Ciliary Dysfunction The majority of newborns with primary ciliary dyskinesia (PCD), formerly known as immotile cilia syndrome, develop neonatal respiratory distress with ... Read the Article 1 8 Activity MD/PA Activity DO
Cinacalcet Cinacalcet is a medication used in the management and treatment of secondary hyperparathyroidism (on dialysis population), primary hyperparathyroidism ... Read the Article 0.75 5 Activity MD/PA Activity DO
Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the production of glu ... Read the Article 1 10 Activity MD/PA Activity DO
Congenital Hypothyroidism Congenital hypothyroidism is one of the most common preventable causes of intellectual disability. This activity reviews the evaluation and treatment ... Read the Article 1 11 Activity MD/PA Activity DO
Constitutional Growth Delay Short stature is defined as height at least two standard deviations below the age and sex-matched mean. Ideally, this should be matched to people of t ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cushing Disease Cushing disease is an endocrine disorder characterized by excessive production of adrenocorticotropic hormone (ACTH) by the anterior pituitary leading ... Read the Article 1.25 13 Activity MD/PA Activity DO
Cushing Syndrome Cushing syndrome is caused by prolonged exposure to high circulating levels of cortisol. The most common cause of cushingoid features is iatrogenic co ... Read the Article 1.75 25 Activity MD/PA Activity DO
Cystic Fibrosis And Liver Disease Cystic fibrosis (CF) is an autosomal recessive (AR) disorder that commonly affects the White population with an annual incidence of approximately 1 in ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cystic Fibrosis Related Diabetes Cystic fibrosis-related diabetes is an extrapulmonary complication of cystic fibrosis. Cystic fibrosis-related diabetes is the result of abnormal gluc ... Read the Article 0.75 5 Activity MD/PA Activity DO
Dawn Phenomenon The "dawn phenomenon" refers to periodic episodes of hyperglycemia experienced by patients with diabetes in the early morning hours before, and to som ... Read the Article 0.75 6 Activity MD/PA Activity DO
Delayed Puberty Delayed puberty not infrequently occurs in the pediatric population and a common reason for referral to a pediatric endocrinologist. While it is usual ... Read the Article 0.75 4 Activity MD/PA Activity DO
Desmopressin Desmopressin is a drug which acts on the vasopressin receptors of the body. It has many relevant clinical uses, ranging from nocturnal enuresis to hem ... Read the Article 1 7 Activity MD/PA Activity DO
Diabetes Insipidus Diabetes insipidus (DI) is a disease process that results in either decreased release of or response to antidiuretic hormone (ADH, also known as vasop ... Read the Article 1.25 15 Activity MD/PA Activity DO
Diabetes Mellitus Type 1 Type 1 diabetes mellitus (T1DM) is an autoimmune disease that leads to the destruction of insulin-producing pancreatic beta cells. Insulin is an essen ... Read the Article 1 10 Activity MD/PA Activity DO
Diabetes Mellitus Type 1 In Children Type 1 diabetes is an autoimmune condition that leads to the destruction of pancreatic beta cells which in turn causes insufficient insulin production ... Read the Article 0.75 5 Activity MD/PA Activity DO
Diabetic Embryopathy Maternal diabetes has several adverse effects on embryogenesis and fetal development and causes multiple congenital anomalies, and secondary medical c ... Read the Article 1 6 Activity MD/PA Activity DO
Diabetic Foot Infections There are approximately 29 million people with diabetes in the United States, and approximately 25% of people older than age of 65 have diabetes. The ... Read the Article 1 7 Activity MD/PA Activity DO
Diffuse Toxic Goiter Goiter is an anatomical enlargement of the thyroid gland. It can be related with thyroid dysfunction or have normal thyroid function. This activity re ... Read the Article 0.75 5 Activity MD/PA Activity DO
DiGeorge Syndrome DiGeorge syndrome (DGS) is a congenital disorder with a broad phenotypic presentation, which results predominantly from the microdeletion of chromosom ... Read the Article 1 7 Activity MD/PA Activity DO
Down Syndrome Down syndrome (trisomy 21) is a genetic disorder caused by the presence of all or a portion of a third chromosome 21. Patients typically present with ... Read the Article 1 9 Activity MD/PA Activity DO
Ectopic Thyroid The thyroid gland is the first endocrine gland that develops during fetal embryology, which starts between the third and fourth gestational weeks. The ... Read the Article 1 9 Activity MD/PA Activity DO
Enuresis Enuresis is a common childhood disorder seen in outpatient settings. Enuresis can be promptly treated if cases are identified early. In this activity, ... Read the Article 1 7 Activity MD/PA Activity DO
Erythropoietic Protoporphyria Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, p ... Read the Article 0.75 5 Activity MD/PA Activity DO
Euglycemic Diabetic Ketoacidosis Euglycemic diabetic ketoacidosis (EDKA) is an uncommon diabetic complication associated with several risk factors such as fasting, surgery, pregnancy, ... Read the Article 1 12 Activity MD/PA Activity DO
Familial Hypercholesterolemia Familial hypercholesterolemia is known as a group of inherited genetic defects that lead to the severe elevation of serum cholesterol concentrations. ... Read the Article 1.5 18 Activity MD/PA Activity DO
Familial Hyperlipidemia Type 1 Familial hyperlipidemia Type 1, commonly known as familial hyperchylomicronemia syndrome, is a rare autosomal recessive metabolic disorder that is cau ... Read the Article 0.75 5 Activity MD/PA Activity DO
Familial Hypocalciuric Hypercalcemia Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition. It occurs as a result of mutations in the calcium-sensing receptor ... Read the Article 0.75 4 Activity MD/PA Activity DO
Familial Short Stature Familial short stature (FSS) is the condition characterized by the final adult height below the third percentile of the mean for the patient's age, ge ... Read the Article 0.75 5 Activity MD/PA Activity DO
Female Athlete Triad Female athletes often complain of low energy availability, which is defined as energy from oral nutrition less energy used for exercise. As such, low ... Read the Article 0.75 5 Activity MD/PA Activity DO
Fibrous Dysplasia Fibrous dysplasia is a typically benign bone lesion characterized by intramedullary fibro-osseous proliferation secondary to altered osteogenesis. The ... Read the Article 1 7 Activity MD/PA Activity DO
Fluorides and Fluorocarbons Toxicity Fluorocarbons are fluorinated carbon chain polymers that are used in an assortment of household and commercial products as waterproofing agents, lubri ... Read the Article 0.75 5 Activity MD/PA Activity DO
Fructose 1-Phosphate Aldolase Deficiency Fructose 1-phosphate aldolase deficiency or hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by the deficiency in aldol ... Read the Article 1 7 Activity MD/PA Activity DO
Galactokinase Deficiency Galactokinase deficiency or galactosemia type II is a rare inborn error of galactose metabolism. Galactosemia type II is rarer and more insidious than ... Read the Article 0.75 4 Activity MD/PA Activity DO
Galactorrhea Galactorrhea is milk production from the breast unrelated to pregnancy or lactation. Milk production one year after cessation of breastfeeding is non- ... Read the Article 0.75 4 Activity MD/PA Activity DO
Galactose 1 Phosphate Uridyltransferase Deficiency Galactosemia is an inborn error of metabolism due to impaired degradation of galactose. If not recognized and treated promptly, affected infants may d ... Read the Article 1.25 13 Activity MD/PA Activity DO
Gardner Syndrome Gardner syndrome is a phenotypic variant of familial adenomatous polyposis. It is an autosomal dominant disease characterized by numerous adenomatous ... Read the Article 1 8 Activity MD/PA Activity DO
Gender Dysphoria Gender dysphoria (previously gender identity disorder), according to Diagnostic and Statistical Manual of Mental disorders are defined as a “marked in ... Read the Article 1 5 Activity MD/PA Activity DO
Gigantism And Acromegaly Acromegaly and gigantism are disorders of the abnormal excess secretion of growth hormone. Gigantism occurs when growth hormone hypersecretion occurs ... Read the Article 0.75 5 Activity MD/PA Activity DO
Gitelman Syndrome Gitelman syndrome is a salt-losing tubulopathy caused by mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide- ... Read the Article 0.75 6 Activity MD/PA Activity DO
Glycogen Storage Disease Glycogen storage diseases (GSDs) are inherited inborn errors of metabolism of carbohydrates. In general, these results from a lack of specific enzymes ... Read the Article 1 8 Activity MD/PA Activity DO
Glycogen Storage Disease Type I Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the ... Read the Article 1 7 Activity MD/PA Activity DO
Glycogen Storage Disease Type II Glycogen storage disease type II, also known as Pompe disease, is a metabolic disorder creating glycogen deposits inside lysosomes within the muscular ... Read the Article 0.75 5 Activity MD/PA Activity DO
Glycogenic Hepatopathy Glycogenic hepatopathy (GH) is a rare or possibly under-diagnosed complication seen in children and young adults with poorly controlled type 1 diabete ... Read the Article 0.75 6 Activity MD/PA Activity DO
Gout Gout is one of the most common causes of chronic inflammatory arthritis in the United States, which is characterized by monosodium urate (MSU) monohyd ... Read the Article 1.25 14 Activity MD/PA Activity DO
Gyrate Atrophy Of The Choroid and Retina Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by elevation of plasma ornithine levels due to deficien ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hartnup Disease Hartnup disease is an autosomal recessive disorder resulting in impaired functioning of transport protein in intestines and kidneys. This results in w ... Read the Article 1 9 Activity MD/PA Activity DO
Hepatic Hemangioma Hemangiomas are benign vascular tumors that may involve either the skin or viscera. Infantile hemangioma (IH) grows rapidly after birth then involutes ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hereditary Fructose Intolerance Hereditary fructose intolerance is an autosomal recessive disorder where patients lack the enzyme to breakdown fructose-1-phosphate. This disease usua ... Read the Article 0.75 5 Activity MD/PA Activity DO
High Anion Gap Metabolic Acidosis High anion gap metabolic acidosis (HAGMA) is a type of metabolic acidosis. Differentiation of acidosis into a particular subtype, whether high anion g ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hirsutism Hirsutism is the growth of excessive male-pattern hair in women after puberty. It affects facial and body areas dependent on androgens, namely mustach ... Read the Article 0.75 4 Activity MD/PA Activity DO
Human Insulin The management of type 1 diabetes mellitus entails replacing the actions of the beta cells of the pancreatic islet to detect the needs of insulin and ... Read the Article 1 12 Activity MD/PA Activity DO
Hurler Syndrome Hurler syndrome, also known as mucopolysaccharidosis type I (MPH I), is one of the eleven mucopolysaccharidoses (MPS) disorders. Hurler syndrome was f ... Read the Article 0.75 4 Activity MD/PA Activity DO
Hyaluronidase Hyaluronidase is an enzyme useful in facilitating the management of injectable medications. This activity reviews the indications, action, adverse eff ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hyperammonemia Hyperammonemia is a metabolic condition characterized by raised levels of ammonia, a nitrogen-containing compound. Ammonia is a potent neurotoxin. Hyp ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hyperphosphatemia This article summarises the basics of Hyperphosphatemia, including its pathophysiology, evaluation, and management. Though this condition is seen more ... Read the Article 1 6 Activity MD/PA Activity DO
Hyperprolactinemia When the amount of serum prolactin exceeds the upper limit, we call it hyperprolactinemia. The common causes of hyperprolactinemia can be physiologica ... Read the Article 1 7 Activity MD/PA Activity DO
Hyperthyroidism The thyroid gland is a bilobed structure located in the anterior aspect of the trachea between the cricoid cartilage and the suprasternal notch. Each ... Read the Article 1.5 21 Activity MD/PA Activity DO
Hypoaldosteronism Hypoaldosteronism is a clinical condition characterized by a deficiency of aldosterone or its impaired action at the tissue level. The disorder may re ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypocalcemia Disorders of calcium metabolism are frequently encountered. Though hypocalcemia is encountered as frequently as hypercalcemia, it can be potentially l ... Read the Article 1.25 14 Activity MD/PA Activity DO
Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis is a rare channelopathy caused by the skeletal muscle ion channel mutations, commonly calcium channel and less commonly ... Read the Article 1 7 Activity MD/PA Activity DO
Hypophosphatemia Given its widespread role in nearly every molecular, cellular function, aberrations in serum phosphate levels can be highly impactful. Hypophosphatemi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypopituitarism Hypopituitarism is defined as a deficiency of one or more of the hormones produced by the pituitary gland. The presence of hypopituitarism is associat ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypospadias Urogenital Reconstruction Hypospadias is one of the most common urogenital anomalies in newborn males. It is defined as the combination of the displacement of the urethral open ... Read the Article 1 6 Activity MD/PA Activity DO
Hypothalamic Dysfunction The hypothalamus is the central command center for hormonal regulation, and its effects are primarily carried out by the hormones released from the hy ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypothalamic Hamartoma Hypothalamic hamartomas are congenital non-progressive lesions in the hypothalamus. These lesions usually develop a disabling course presenting with m ... Read the Article 0.75 5 Activity MD/PA Activity DO
Imperforate Hymen When the hymen, a thin membrane of stratified squamous epithelium circumscribing the vaginal introitus, does not spontaneously rupture during neonatal ... Read the Article 1 6 Activity MD/PA Activity DO
Inborn Errors Of Metabolism Inborn errors of metabolism are a heterogeneous group of disorders that may be inherited or may occur as the result of spontaneous mutations. These di ... Read the Article 1 8 Activity MD/PA Activity DO
Infant Nutrition Requirements and Options Infancy is a period of rapid growth second only to the fetal period, with a pressing need to optimize nutrition to ensure adequate growth and organ de ... Read the Article 1 7 Activity MD/PA Activity DO
Infantile Acne Acne vulgaris, a common dermatologic condition, is defined by the presence of comedones. Essentially benign in nature, acne vulgaris can, however, res ... Read the Article 0.75 5 Activity MD/PA Activity DO
Insulinoma Insulinoma is a type of functional neuroendocrine tumor characterized by hypersecretion of insulin causing hypoglycemia. This activity reviews the man ... Read the Article 1.25 16 Activity MD/PA Activity DO
Interrupted Aortic Arch A rare type of congenital heart disease is an interrupted aortic arch (IAA), which affects approximately 1.5% of congenital heart disease patients. In ... Read the Article 0.75 6 Activity MD/PA Activity DO
Jacobs Syndrome Jacob's syndrome is a rare genetic abnormality in which a male receives an extra Y chromosome from his father. While many patients go undiagnosed due ... Read the Article 1 7 Activity MD/PA Activity DO
Kallmann Syndrome Kallmann Syndrome (KS) is a congenital form of hypogonadotropic hypogonadism (HH) that manifests with hypo- or anosmia. This decrease in gonadal funct ... Read the Article 0.75 5 Activity MD/PA Activity DO
Klinefelter Syndrome Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. The clinical phenotype of KS was first described in males wit ... Read the Article 1.25 16 Activity MD/PA Activity DO
Lactose Intolerance Lactose intolerance is a clinical syndrome that manifests with characteristic signs and symptoms upon the consumption of food substances containing la ... Read the Article 1 8 Activity MD/PA Activity DO
Lesch Nyhan Syndrome Lesch Nyhan Syndrome is an inborn disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, an enzyme of purine ... Read the Article 1 9 Activity MD/PA Activity DO
Leuprolide Leuprolide is a medication used in the management and treatment of prostate cancer, endometriosis, uterine fibroids, precocious puberty, and other sex ... Read the Article 1 10 Activity MD/PA Activity DO
Lipemia Retinalis Lipemia retinalis (LR) is characterized by creamy white discoloration of retinal vessels. It is a feature of chylomicronemia. Proper ophthalmic evalua ... Read the Article 0.75 6 Activity MD/PA Activity DO
Lipodystrophies Lipodystrophies are conditions that share the common finding of a reduction in subcutaneous fat. There are multiple subtypes of lipodystrophy, which m ... Read the Article 1 6 Activity MD/PA Activity DO
Lipoprotein Lipase Deficiency Lipoprotein lipase deficiency is a rare autosomal recessive genetic disorder of lipid metabolism. It is characterized by severe hypertriglyceridemia a ... Read the Article 1 6 Activity MD/PA Activity DO
Lysosomal Storage Disease Lysosomal storage diseases (LSDs) are inborn errors of metabolism characterized by the accumulation of substrates in excess in various organs' cells d ... Read the Article 1 5 Activity MD/PA Activity DO
Maple Syrup Urine Disease Maple syrup urine disease is a rare, inborn error of metabolism, resulting in decreased branched-chain ketoacid dehydrogenase enzyme activity. It can ... Read the Article 1 6 Activity MD/PA Activity DO
Mastalgia Mastalgia refers to a common breast pain that a female suffers from during her lifetime. Approximately two-thirds of women develop this pain during t ... Read the Article 0.75 5 Activity MD/PA Activity DO
Maturity Onset Diabetes in the Young The most commonly recognized forms of diabetes mellitus include type 1 diabetes, an autoimmune disorder, and type 2 diabetes, a polygenic disorder inf ... Read the Article 1 8 Activity MD/PA Activity DO
McArdle Disease McArdle disease is a genetic disorder that mainly affects skeletal muscles. It occurs due to the deficiency or absence of an enzyme called myophosphor ... Read the Article 0.75 6 Activity MD/PA Activity DO
McCune Albright Syndrome McCune-Albright syndrome is a rare genetic disordered originally recognized by the triad of polyostotic fibrous dysplasia, precocious puberty, and caf ... Read the Article 0.75 5 Activity MD/PA Activity DO
Medium-Chain Acyl-COA Dehydrogenase Deficiency Medium-chain acyl-COA dehydrogenase (MCAD) deficiency is one of the most common fatty acid ß-oxidation disorders. It is an autosomal recessive disorde ... Read the Article 0.75 6 Activity MD/PA Activity DO
Medullary Thyroid Cancer Medullary thyroid cancer (MTC) is a tumor arising from the parafollicular cells, or C cells, of the thyroid gland. Medullary thyroid cancer produces c ... Read the Article 1 10 Activity MD/PA Activity DO
Menkes Kinky Hair Disease Menkes kinky hair disease is a rare X-linked recessive progressive multisystemic disease of copper metabolism. Patients usually exhibit a severe clini ... Read the Article 1 6 Activity MD/PA Activity DO
Menorrhagia Abnormal uterine bleeding (AUB) is the name given to describe any deviation from the normal menstrual cycle. The average cycle lasts 29 days with a ra ... Read the Article 0.75 5 Activity MD/PA Activity DO
Metachromatic Leukodystrophy Metachromatic leukodystrophy is a rare lysosomal storage disease caused due to deficient activity of arylsulfatase A. It follows an autosomal recessiv ... Read the Article 1 8 Activity MD/PA Activity DO
Methimazole Methimazole has effects in the production of thyroid hormone and is useful in treating conditions related to thyroid hormone, especially thyrotoxicosi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Micropenis Micropenis is a vital sign that can indicate a hormonal deficiency or genetic association. Early recognition of this condition is essential in providi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Mucopolysaccharidosis Type II Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive disorder. It has an early age of onset with clinical symptoms involving m ... Read the Article 1 8 Activity MD/PA Activity DO
Multiple Endocrine Neoplasia Type 1 Multiple endocrine neoplasia Type 1 (MEN1), also known as Wermer syndrome, is a rare hereditary endocrine tumor syndrome. The most common tumors seen ... Read the Article 1 7 Activity MD/PA Activity DO
Multiple Endocrine Neoplasias Type 2 Multiple endocrine neoplasia type 2 (MEN 2) is a hereditary cancer syndrome associated primarily with tumors of the adrenal gland, thyroid and parathy ... Read the Article 1 9 Activity MD/PA Activity DO
Munchausen Syndrome Factitious disorder imposed on self, formerly known as Munchausen syndrome, is a psychiatric disorder in which a person assumes the role of a sick pat ... Read the Article 1 7 Activity MD/PA Activity DO
Muscle Cramps Muscle cramps result in continuous, involuntary, painful, and localized contraction of an entire muscle group, individual single muscle, or select mus ... Read the Article 1 9 Activity MD/PA Activity DO
Neonatal Seizure Neonatal seizures are a commonly encountered neurologic condition in neonates. They are defined as the occurrence of sudden, paroxysmal, abnormal alte ... Read the Article 1 9 Activity MD/PA Activity DO
Neuroacanthocytosis Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progre ... Read the Article 0.75 6 Activity MD/PA Activity DO
Neuroma A neuroma is a benign tumor of nerve tissue that is often associated with pain or in specific types of various other symptoms. Neuromas most commonly ... Read the Article 0.75 5 Activity MD/PA Activity DO
Newborn Subcutaneous Fat Necrosis Subcutaneous fat necrosis of the newborn is a rare, self-limited panniculitis that typically occurs in full-term or post-term newborn infants within t ... Read the Article 1 7 Activity MD/PA Activity DO
Nonketotic Hyperglycinemia Nonketotic hyperglycinemia is a rare, genetic, inborn error of glycine metabolism. Due to a mutation in the glycine cleavage enzyme system, the patien ... Read the Article 0.75 5 Activity MD/PA Activity DO
Nontoxic Goiter Goiter is the enlargement of the thyroid gland. Nontoxic goiter is thyroid gland enlargement with no disturbance in the thyroid function. It is not du ... Read the Article 0.75 6 Activity MD/PA Activity DO
Obesity Obesity is the excessive or abnormal accumulation of fat or adipose tissue in the body that may impair health. Obesity has become an epidemic which ha ... Read the Article 1 7 Activity MD/PA Activity DO
Ochronosis Ochronosis is named for the reddish-brown hue of tissue termed "ochre-like" that was first described by a young physician named Archibald Garrod in th ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ornithine Transcarbamylase Deficiency Ornithine transcarbamylase deficiency is the most common of the urea cycle disorders. It is an X-linked genetic disorder that prevents the breakdown a ... Read the Article 0.75 4 Activity MD/PA Activity DO
Orthostatic Hypotension Orthostatic hypotension is defined as a sudden drop in blood pressure upon standing from a sitting or supine position. Clinically, this is diagnosed b ... Read the Article 1.5 20 Activity MD/PA Activity DO
Osteoma Cutis Osteoma cutis or cutaneous ossification is a rare and benign dermatological disease characterized by bone formation in the dermis or subcutaneous tiss ... Read the Article 0.75 5 Activity MD/PA Activity DO
Osteopetrosis The name osteopetrosis encompasses a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodeling leading ... Read the Article 0.75 6 Activity MD/PA Activity DO
Pancrelipase Therapy Pancrelipase, which is a combination of lipase, protease, and amylase, has been shown to benefit patients with exocrine pancreatic insufficiency. The ... Read the Article 1 7 Activity MD/PA Activity DO
Papillary Thyroid Carcinoma Papillary thyroid carcinoma (PTC) is an epithelial malignancy showing evidence of follicular cell differentiation and a set of distinctive nuclear fea ... Read the Article 1 11 Activity MD/PA Activity DO
PCSK9 Inhibitors Familial hypercholesterolemia is a syndrome characterized by extremely high levels of total and LDL-cholesterol, premature vascular disease, and tendo ... Read the Article 0.75 6 Activity MD/PA Activity DO
Pediatric Craniopharyngioma Pediatric craniopharyngioma could be considered one of the most complex neurosurgical pathologies in the pediatric population. The tumor's proximity t ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pediatric Diabetic Ketoacidosis Diabetic ketoacidosis (DKA) is a serious complication of relative insulin deficiency affecting primarily type-1 diabetes mellitus (DM). DKA can occur ... Read the Article 1 7 Activity MD/PA Activity DO
Pediatric Type 2 Diabetes Mellitus Type 2 diabetes mellitus is a metabolic disorder characterized by peripheral insulin resistance, leading to hyperglycemia. While once considered an ad ... Read the Article 0.75 4 Activity MD/PA Activity DO
Pendred Syndrome Pendred syndrome is characterized by the combination of sensorineural hearing loss and thyroid goiter with or without hypothyroidism. This activity is ... Read the Article 0.75 6 Activity MD/PA Activity DO
PHACE Syndrome Infantile hemangioma is the most prevalent benign tumor of infancy, with an estimated incidence between 4 and 5 percent. Large facial segmental hemang ... Read the Article 1 7 Activity MD/PA Activity DO
Pituitary Adenoma Pituitary adenomas are tumors of the anterior pituitary. Most pituitary tumors are slow-growing and benign. They are classified based on size or cell ... Read the Article 1 9 Activity MD/PA Activity DO
Polycystic Ovarian Disease Polycystic ovarian syndrome (PCOS) is the most common hormonal disorder in females of reproductive age. It is characterized by two or more of the foll ... Read the Article 1.25 15 Activity MD/PA Activity DO
Polyglandular Autoimmune Syndrome Type I Autoimmune polyglandular syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is character ... Read the Article 0.75 4 Activity MD/PA Activity DO
Polyglandular Autoimmune Syndrome Type II Polyglandular autoimmune syndrome type 2 (PAS-2) is an autoimmune syndrome which leads to lymphocytic infiltration causing organ-specific damage. PAS- ... Read the Article 1 8 Activity MD/PA Activity DO
Prader-Willi Syndrome Prader Willi syndrome (PWS) is a rare and complex genetic disease. The condition has numerous implications on metabolic, endocrine, and neurologic sys ... Read the Article 1 9 Activity MD/PA Activity DO
Precocious Pseudopuberty Precocious puberty is traditionally defined as the appearance of secondary sexual characteristics before the age of eight years in girls and nine year ... Read the Article 1 5 Activity MD/PA Activity DO
Precocious Puberty Precocious puberty is an early onset of puberty and secondary sexual characteristics in children. It is a very challenging diagnosis as the differenti ... Read the Article 1 6 Activity MD/PA Activity DO
Primary Amenorrhea Amenorrhea is defined as the absence of menarche in females of reproductive age. Primary amenorrhea is defined as the failure of initiation of menses ... Read the Article 0.75 5 Activity MD/PA Activity DO
Primary Hyperaldosteronism Primary hyperaldosteronism (PA) is an underdiagnosed cause of hypertension. The classic presentation of PA includes hypertension and hypokalemia. Howe ... Read the Article 1 10 Activity MD/PA Activity DO
Primary Polydipsia Primary polydipsia can be categorized into two types. They are psychogenic polydipsia and dipsogenic polydipsia. Psychogenic polydipsia is a condition ... Read the Article 1 6 Activity MD/PA Activity DO
Primitive Neuroectodermal Tumor In 2016, the World Health Organization published a revised classification of central nervous system tumors using molecular parameters. In this classif ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pseudohypoparathyroidism Pseudohypoparathyroidism is a rare disorder where patients are resistant to parathyroid hormone. Parathyroid hormone resistance leads to hypocalcemia ... Read the Article 0.75 6 Activity MD/PA Activity DO
Pyruvate Kinase Deficiency Pyruvate kinase deficiency (PKD) is the most common enzyme-related glycolytic defect that results in red cell hemolysis. Invariably, PKD results in he ... Read the Article 1 9 Activity MD/PA Activity DO
Refsum Disease Refsum disease is a rare autosomal recessive disease from the peroxisomal biogenesis spectrum of disorders. Peroxisomes are multiple membrane-bound in ... Read the Article 1 6 Activity MD/PA Activity DO
Renal Tubular Acidosis Kidneys play a pivotal role in maintaining the acid-base balance of body along with lungs, and they do so by reabsorbing filtered bicarbonate and remo ... Read the Article 1.25 12 Activity MD/PA Activity DO
Retrognathia Retrognathia is a term used to describe a mandible that is posterior to and behind where it should be when viewed from a lateral vantage point. Retrog ... Read the Article 0.75 4 Activity MD/PA Activity DO
Rickets Rickets is a condition characterized by a defect in mineralization of the epiphyseal plates. Rickets could be inherited or acquired. The acquired rick ... Read the Article 1.25 11 Activity MD/PA Activity DO
Short Stature Short stature is defined as a condition in which the height of an individual is in the 3rd percentile for the mean height of a given age, sex, and pop ... Read the Article 0.75 5 Activity MD/PA Activity DO
Sudden Infant Death Syndrome Sudden infant death syndrome (SIDS) is the abrupt and unexplained death of an infant less than 1-year old. Despite a thorough investigation (a careful ... Read the Article 1 10 Activity MD/PA Activity DO
Syndrome of Inappropriate Antidiuretic Hormone Secretion Syndrome of inappropriate antidiuretic hormone ADH release (SIADH) is a condition defined by the unsuppressed release of antidiuretic hormone (ADH) fr ... Read the Article 1 11 Activity MD/PA Activity DO
Syndromic Sensorineural Hearing Loss Congenital hearing loss affects 1 to 3 per 1000 newborns. For many children born with hearing loss, it is an isolated finding known as a non-syndromic ... Read the Article 0.75 5 Activity MD/PA Activity DO
Tangier Disease Tangier disease occurs due to the accumulation of cholesterol esters within a body organ. This activity outlines the evaluation and management of it a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Thyroid Adenoma Thyroid adenoma is a benign lesion of the thyroid gland. There are two types of thyroid adenomas, follicular and papillary. Thyroid adenoma usually pr ... Read the Article 1 10 Activity MD/PA Activity DO
Thyroid Nodule Although more than 90 percent of identified thyroid nodules are clinically insignificant benign lesions, 4 to 6.5 percent of cases these nodules are d ... Read the Article 1 10 Activity MD/PA Activity DO
Thyroiditis This activity reviews the different types of thyroiditis, their presentation, evaluation, diagnosis and treatment and highlights the role of the inter ... Read the Article 1 8 Activity MD/PA Activity DO
Thyroxine-Binding Globulin Deficiency Thyroxine-binding globulin deficiency is a disorder that can often be misdiagnosed based on an inaccurate interpretation of thyroid hormone labs; this ... Read the Article 0.75 6 Activity MD/PA Activity DO
Transposition Of The Great Arteries Transposition of the great arteries (TGA) is a congenital pediatric cardiac defect arising from an embryological discordance between the aorta and pul ... Read the Article 1 11 Activity MD/PA Activity DO
Turner Syndrome Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. It result ... Read the Article 1.25 15 Activity MD/PA Activity DO
Urea Cycle Disorders Urea cycle disorders are inborn errors of metabolism resulting from defects in one of the enzymes or transporter molecules involved in the hepatic rem ... Read the Article 1 8 Activity MD/PA Activity DO
Velocardiofacial Syndrome Velocardiofacial syndrome, also known as Di George syndrome or chromosome 22q11.2 syndrome, is the most common microdeletion syndrome in humans. Thoug ... Read the Article 0.75 4 Activity MD/PA Activity DO
ViPoma Vasoactive intestinal peptide tumors (VIPoma) are neuroendocrine tumors secreting vasoactive intestinal peptide (VIP) in an unregulated manner. The VI ... Read the Article 0.75 5 Activity MD/PA Activity DO
Viral Encephalitis Viral encephalitis is inflammation of the brain parenchyma caused by a virus. It is the most common type of encephalitis and often coexists with viral ... Read the Article 1 12 Activity MD/PA Activity DO
Vitamin B1 Thiamine Deficiency Thiamine, or vitamin B1, was the first vitamin identified to be identified. It functions as a catalyst in the generation of energy through decarboxyla ... Read the Article 1 9 Activity MD/PA Activity DO
Vitamin D Vitamin D is labeled as the "sunshine vitamin," as it is produced in the skin on sun exposure. Vitamin D is required to maintain serum calcium concent ... Read the Article 1 7 Activity MD/PA Activity DO
Vitiligo Vitiligo is a common acquired skin disorder which results from the loss of melanocytes from the epidermis and clinically manifests as well-demarcated ... Read the Article 1 7 Activity MD/PA Activity DO
Waterhouse-Friderichsen Syndrome Waterhouse Friderichsen syndrome is a rare but life-threatening disorder associated with bilateral adrenal hemorrhage. In many cases, it is caused by ... Read the Article 0.75 5 Activity MD/PA Activity DO
Zellweger Syndrome Zellweger syndrome, also known as cerebrohepatorenal syndrome, is a rare inherited disorder characterized by the absence or reduction of functional pe ... Read the Article 0.75 5 Activity MD/PA Activity DO

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