title: Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency.
abstract: We report two newborns with female external genitalia and bilateral inguinal swelling who were diagnosed with 17β-hydroxysteroid dehydrogenase type 3 deficiency, a rare cause of 46,XY disorder of sexual development. The first case had normal clitoral size and vaginal and urethral openings, palpable gonads in the inguinal region, low testosterone, and low levels of basal and GNRH-stimulated gonadotropin. The second case had similar external genitalia, low testosterone but borderline basal and normal stimulated gonadotropin levels. Low testosterone/androstenedione ratios (0.22 and 0.24, respectively; normal, >0.8) after human chorionic gonadotropin stimulation indicated 17β-hydroxysteroid dehydrogenase type 3 deficiency. HSD17B3 sequencing revealed a homozygous novel mutation (c.464A>C, p.H155P) in exon 6 in the first case and homozygous c.239G>A (p.R80Q) in exon 3 in the second.
authors: Korcan
authors: K
authors: Demir
authors: Melek
authors: M
authors: Yıldız
authors: Özlem Nalbantoğlu
authors: ÖN
authors: Elmas
authors: Hüseyin Anıl
authors: HA
authors: Korkmaz
authors: Selma
authors: S
authors: Tunç
authors: Özgür
authors: Ö
authors: Olukman
authors: Filiz
authors: F
authors: Hazan
authors: Keramettin Uğur
authors: KU
authors: Özkan
authors: Behzat
authors: B
authors: Özkan
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D011627:Puberty / Q000235:genetics*; D012741:Sexual Maturation / Q000235:genetics
chemical_list: D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3