Infantile Iatrogenic Cushing Syndrome due to Topical Steroids.

Cushing syndrome is an endocrinological disorder characterized by increased free plasma glucocorticoids level. It is either due to an excessive endogenous release of steroids (e.g.

A Novel Mutation of the in a Saudi Infant with Primary Hypoaldosteronism.

Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay. Laboratory tests revealed hyponatremia, hyperkalemia, and metabolic acidosis with high renin and low aldosterone.

A Novel Homozygous Frameshift Mutation in Exon 2 of Gene Associated with Severe Obesity: A Case Report.

Background: Monogenic obesity is a rare type of obesity caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of obesity and severe metabolic abnormalities.

Case Presentation: A two-and-half-year-old girl was presented to our clinic because of excessive weight gain and hyperphagia.

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Context: In 46,XY disorders of sex development, 5α-reductase deficiency is rare and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to partial androgen insensitivity syndrome. Yet the cause of ambiguous genitalia may guide sex assignment, and rapid, precise diagnosis of 5α-reductase deficiency is essential.

Objective: The aim of the study was to describe relevant data for clinical diagnosis, biological investigation, and molecular determination from 55 patients with srd5A2 mutations identified in our laboratory over 20 yr to improve early diagnosis.