Non-classical congenital adrenal hyperplasia. Clinical case

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical shifts in production glucocorticoids, mineralocorticoids, or sex steroids cholesterol by glands. Universal newborn screening CAH recommended early diagnosis and initiation therapy. The development due a defect CYP21 gene, which encodes 21-hydroxylase enzyme involved synthesis cortisol. This leads increase secretion adrenocorticotropic hormone accumulation cortisol precursors, are converted into androgens— classical form develops. With point mutation incomplete occurs 21-hydroxylase, unpronounced disorder steroidogenesis— non-classical congenital hyperplasia, happens more often. In this form, clinical symptoms erased with moderate hirsutism, acne vulgaris, infertility. comparison disease, diagnosed at birth during neonatal period because ambiguous genitalia and/or salt-wasting through programs used some countries, most cases not easy detect. Additionally, many individuals remain asymptomatic childhood adolescence, have normal reproductive function, only become aware another family member consequent testing. However, women seek medical assistance when they experience androgen excess and, suspicion prompts testing, elevated basal 17-OH progesterone levels may primarily CAH. A case manifested itself infertility given. Pregnancy occurred after 4 months treatment prednisolone (5 mg/day).