Abstract
During an uneventful pregnancy, prenatal sex determination of the fetus was performed on parental request. A 46, XY karyotype was found. At term, a phenotypic girl was born, and a second chromosome analysis confirmed the 46, XY constitution. There was a complete vagina, but on echography, gonads and uterus could not be seen with certainty. At age 8 months, FSH was 53 μU/mol, LH 3μU/l testosterone 1.1, and androstenedione 1.2 nmol/1. After hCG (5000 IU/m2), there was no increment of testosterone. Urinary steroids before and after hCG and ACTH (gas chromatography on capillary column) suggest the presence of 17, 20-desmolase deficiency: basal Cortisol (total of THE, THF, alloTHF, cortolone, β-cortolone 1.95 μmol/d) and progesterone metabolites (pregnanediol 0.14, pregnanetriol 0.2 μmol/d) were normal, but individual 17-ketosteroids (androsterone 0.42, etiocholanolone 0.14) low or undectable (DHEA). Thus, inspite of the common cytochrome P450, 17α-hydroxylating activity was normal. Urinary 5β/5α ratio was normal (0.33). In fibroblasts cultured from biopsy at labium majora androgen receptor binding was just below normal, but surprisingly the 5α-reductase activity reduced (0.60 pmol/mg protein−1.h−1, normal >1). This reduction appears to be secondary to the lack of the substrate testosterone during embryogenesis. Supported by Swiss National Science Foundation Grant No. 3.874.83 und DFG Schw 168/5-8.
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Otten, A., Kreuder, J., Zachmann, M. et al. 144 17, 20-DESMOLASE DEFICIENCY IN A 8 MONTH OLD INFANT. Pediatr Res 24, 541 (1988). https://doi.org/10.1203/00006450-198810000-00165
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DOI: https://doi.org/10.1203/00006450-198810000-00165
