Two different patterns of mini- puberty in two 46,XY newborns with 17 beta- hydroxysteroid dehydrogenase type 3 deficiency

DEMİR K., Yildiz M., Elmas O. N., Korkmaz H. A., Tunc S., Olukman O., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, sa.7-8, ss.961-965, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 7-8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/jpem-2014-0365
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.961-965
  • Anahtar Kelimeler: 17 beta-HSD3 deficiency, HSD17B3, DSD, gender reassignment, orchiectomy, 17-BETA-HYDROXYSTEROID DEHYDROGENASE-3, MALE PSEUDOHERMAPHRODITISM, GENE, MUTATIONS
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

We report two newborns with female external genitalia and bilateral inguinal swelling who were diagnosed with 17 beta-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 17 beta-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.