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>17|[ndash]|20 Desmolase deficiency in two unrelated prepubertal and adolescent boys previously diagnosed as simple hypospadias
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17|[ndash]|20 Desmolase deficiency in two unrelated prepubertal and adolescent boys previously diagnosed as simple hypospadias
In the 2 patients,8? and 13yrs old,attention was drawn in the course of plastic surgery for perineoscrotal hypospadias by the small size of the phallus,the testis were palpable in the scrotum and there was a normal androgen sensitivity.In the older boy a small vaginal pouch was found;pubertal changes in hypothalamopituitary secretion were shown in the LHRH test (FSH:2,8-7;LH:5,6-60mIU/ml) and a large gynecomastia subsequently developped.Diagnosis of the enzyme defect was made by systematic endocrine studies in plasma (ng/dl) basal levels of testosterone (T),Androstenedione (A),DHA and DHAS were very low,while those of 17-OH progesterone (OHP)were very high (362 and 358).Dynamic studies were strikingly similar in both cases:no rise in plasma A and DHA after 250 μg/m2 of ACTH IV, an abnormally low rise in T (82 and 112) after HCG(7×1500 IU every other day) contrasting with an enormous rise in OHP after both ACTH (2330) and HCG (2757 and 964).Cortisol and aldosterone responses to ACTH were normal.In the urines (mg/day) the post ACTH rise in 17-OHSter olds were abnormally high (30.6 and 53.9)as compared with that of the ketogenic steroids (49.4 and 35.2).In the younger boy abnormally high levels of pregnanetriolone were found before(1.8) as well after ACTH (14.9).In conclusion,any child even with small ambiguity of his genitalia should benefit of detailed endocrine studies which may reveal that 17-20 Desmolase deficiency is not an exceptional disease.
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