Endocrine Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).

Case Report: We describe a case report of a 20 year-old female with congenital adrenal hyperplasia (CAH). The 20-year-old female patient was born with genital ambiguity. She was brought up as a girl. Karyotype test result was 46,XX, and laboratory examination showed a high value for 17-hydroxyprogesterone 17OHP (259.4 ng/ml ng/ml), and Dehydroepiandrosterone sulfate (9136 ng/ml) with elevated adrenocorticotropic hormone ACTH (377 ng/l). MRI examination showed atrophic uterus and ovaries. Computed adrenal tomography showed and increased bilateral adrenal glands. The examinations were consistent with the diagnosis of adrenal hyperplasia due to 21 hydroxylase deficiency. The patient is putted on corticosteroids (Oral hydrocortisone) and antiandrogens .The hormonal monitoring showed efficiency of treatment(Decreased 17OHP, DHEA S, ACTH and testosterone).

Discussion: The majority of virilized 46,XX infants will prove to have CAH. CAH is also the most common disorder of sex development. Simple virilizing 21-hydroxylase deficiency is usually diagnosed in female patients shortly after birth owing to genital ambiguity (CYP21 mutation). Mild forms of 21-hydroxylase deficiency in females are identified later in childhood due to precocious pubic hair, partial or complete fusion of labioscrotal folds, and phallus enlargement to clitoromegaly, and are often accompanied by accelerated growth and skeletal maturation due to excess and postnatal exposure to adrenal androgen, either not treated or inadequately treated. 46,XX CAH is a rare case. Management of the patient is based on substantial examination, and the patient’s preference has an important role in deciding the type of treatment. In this case, all examinations were consistent with a diagnosis of CAH and the patient has a tendency to identify as female so the operation (clitoroplasty) will be done.

Keywords: 21Hydroxylase -Deficiency-Adrenal Hyperplasia