AMBIGUOUS GENITALIA IN A NEWBORN MALE WITH DOWN SYNDROME
| Autor: | Saroj Kapur, Michael A Fragoso, Lucinda Dykes, Michael L. Netzloff, Ray E. Helfer |
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| Rok vydání: | 1984 |
| Předmět: | |
| Zdroj: | Pediatric Research. 18:307A-307A |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-198404001-01285 |
| Popis: | Males with Down syndrome have been reported with cryptorchidism and hypospadias but not with frankly feminine external genitalia. We report such a patient. The 3020 g. white infant was the product of a full-term pregnancy in a 33-year-old gravida 2 para 1 mother and was noted to have dysmorphic features consistent with Down syndrome. Newborn examination by a pediatrician revealed a phallus 2 cm in length with urethral opening at its base (apparent clitoromegaly) and separate labial-scrotal folds with palpable masses (apparent testes). Systolic blood pressure was 54 mm Hg and serum sodium and potassium were 139 and 4.8 mEq/L, respectively. All concerned agreed that sex of rearing would be female. Subsequent data included a karyotype of 47, XY + 21. Plasma cortisol and serum testosterone at 8:00 a.m. were 4.2 mcg/dl and 29 mg/dl, respectively. Following the stress of venipuncture, a p.m. ACTH was 114 pg/ml and cortisol was 5.8, which increased to 43.1 mcg/dl 60 minutes after I.V. infusion of Cortrosyn. Diagnostic considerations exclude the rare, non-virilizing forms of congenital adrenal hyperplasia, but include a 17,20-desmolase enzyme defect in adrenal and testes. Alternatively, the ambiguous genitalia in this male patient may result from gonadotropin deficiency, or yet another rare congenital malformation association with the Down syndrome. To our knowledge, none of these associations have previously been reported. |
| Databáze: | OpenAIRE |
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