ABSTRACT
Familial male pseudohermaphroditism (MPH) due to 17,20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17,20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17,20-desmolase deficiency.
Subject(s)
Adolescent , Adult , Cholesterol Side-Chain Cleavage Enzyme/deficiency , Female , Follow-Up Studies , Humans , Hydrocortisone/analysis , Male , Disorders of Sex Development/enzymology , Testosterone/analysis , Treatment OutcomeABSTRACT
A male infant presented with hyponatremia, hyperkalemia, generalized skin hyperpigmentation, and female type external genitalia. These clinical findings were compatible with mineralocorticoid, glucocorticoid and androgen insufficiency. Serum cortisol, progesterone and testosterone levels were extremely low after ACTH stimulation test, suggestive of defect in all of the adrenal steroidogenesis. Computed tomography demonstrated enlarged adrenal glands. The diagnosis of P450scc deficiency or lipoid congenital adrenal hyperplasia was based on all these characteristics. Physiologic replacement therapy with hydrocortisone and 9 alpha-fluorocortisol were effective and the patient achieved normal growth. The clinical characteristics, differential diagnoses, and prenatal diagnosis are discussed and reviewed.