Ace The Pediatric Endocrinology Board Exam

Familial hypercholesterolemia (FH) is a group of inherited genetic defects that lead to the severe elevation of serum cholesterol concentrations. C ...

Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and pro ...

Hyperammonemia is a metabolic condition characterized by the raised levels of ammonia, a nitrogen-containing compound. Normal levels of ammonia in ...

Gardner syndrome is a phenotypic variant of familial adenomatous polyposis. It is an autosomal dominant disease characterized by numerous adenomato ...

Gyrate atrophy (GA) of the choroid and retina is a rare genetic disease of autosomal recessive inheritance. It primarily affects the ocular tissues ...

Vitamin-D, calcium, and phosphorus are the main factors that influence bone maturation and mineralization. Defective mineralization can lead t ...

Insulinoma is a type of functional neuroendocrine tumor (NET) which manifests with hypoglycemia caused by inappropriately high secretion of insulin ...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, caused by the deficiency of one of the enzymes required for the ...

Acne vulgaris, a common dermatologic condition, is defined by the presence of comedones. Essentially benign in nature, acne vulgaris can, however, ...

Addison disease is an acquired primary adrenal insufficiency. A primary adrenal insufficiency is termed Addison disease when an autoimmune pro ...

Adrenoleukodystrophy (ALD) is a genetic disorder that follows X linked inheritance pattern in most cases (X-ALD).

Biotin (vitamin H or vitamin B7) is a B-complex vitamin that acts as an essential coenzyme for five carboxylases: pyruvate carboxyla ...

Refsum disease is one of the four major peroxisomal biogenesis disorders. Peroxisomes are multiple membrane-bound intracellular organelles involved ...

Medium-chain acyl-COA dehydrogenase (MCAD) deficiency (MCADD or MCAD Deficiency) is one of the most common mitochondrial fatty acid β-oxi ...

Lipoprotein lipase deficiency is a genetic disorder with an autosomal recessive pattern of inheritance. It usually presents in childhood and is cha ...

Vitiligo is an acquired pigmentary skin disorder by the absence of pigmentary cells from the epidermis that results in white macules and patches on ...

The hypothalamus is a part of the diencephalon composed of several small nuclei that have different physiologic functions. One of the main fun ...

Phosphate is one of the most important molecular elements to normal cellular functions within the body. It acts as an integral component of nucleic ...