title: Endocrine and biochemical studies in a 46,XY phenotypically male infant with 17-ketosteroid reductase deficiency.
abstract: A 46,XY phenotypically male patient with 17-ketosteroid reductase deficiency is described. The patient was a 6-month-old infant who presented with micropenis and bilateral cryptorchidism. Baseline plasma levels of testosterone (T), delta 4-androstenedione (delta 4A), and 5 alpha-dihydrotestosterone (5 alpha-DHT) were within the normal range [patient: 0.17 (T), 0.12 (delta 4A), and 0.032 (5 alpha-DHT) ng/ml; normal infants: 0.03-0.55 (T), 0.14-0.45 (delta 4A), and 0.01-0.23 (5 alpha-DHT) ng/ml]. hCG administration induced a significant rise in plasma delta 4A levels (up to 8.39 ng/ml) and a slight increase in T and 5 alpha-DHT levels. The delta 4A/T ratios before and during the hCG challenge were 0.86 and 55.61, respectively (controls: 0.83 and 0.13). Incubation of genital skin-derived fibroblasts from the patient with either [3H]T or [3H] delta 4A revealed normal formation of delta 4A from T and diminished conversion of delta 4A to T. The development of a male phenotype despite both a testicular and peripheral 17-ketosteroid reductase deficiency is difficult to explain. It is possible that the fetal testes were the source of sufficient amounts of T during the early periods of embryonic life, and that late onset of the enzyme deficiency prevented the development of completely normal male genitalia. The in vitro finding of normal T to delta 4A conversion by the mutant fibroblasts suggests that in this particular tissue 17 beta-reduction and dehydrogenation of androgens are mediated by two isoenzymes with distinct substrate and/or cofactor specificities.
authors.forename: A
authors.initials: A
authors.lastname: Ulloa-Aguirre
authors.forename: S
authors.initials: S
authors.lastname: Bassol
authors.forename: J
authors.initials: J
authors.lastname: Poo
authors.forename: J P
authors.initials: JP
authors.lastname: Mendez
authors.forename: O
authors.initials: O
authors.lastname: Mutchinick
authors.forename: C
authors.initials: C
authors.lastname: Robles
authors.forename: G
authors.initials: G
authors.lastname: Pérez-Palacios
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D000735:Androstenedione / Q000096:biosynthesis; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D006063:Chorionic Gonadotropin; D003456:Cryptorchidism / Q000201:enzymology* / Q000378:metabolism; D013196:Dihydrotestosterone / Q000096:biosynthesis; D005347:Fibroblasts / Q000378:metabolism; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007223:Infant; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010413:Penis / Q000002:abnormalities*; D010641:Phenotype; D013739:Testosterone / Q000097:blood / Q000378:metabolism
chemical_list: D006063:Chorionic Gonadotropin; D013196:Dihydrotestosterone; D013739:Testosterone; D000735:Androstenedione; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D015067:17-Hydroxysteroid Dehydrogenases