Atypical presentation in patients with 17 alpha-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature

Bolu S., Eroz R., TEKİN M., Dogan M.

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.5, pp.851-857, 2020 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.24953/turkjped.2020.05.019
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.851-857
  • Keywords: 17 alpha-Hydroxylase deficiency, plasma CYP17A1 gene, MLPA analysis, short stature, 17-HYDROXYLASE, SECRETION
  • Inonu University Affiliated: Yes


Background. Patients with 17a-hydroxylase deficiency (17OHD) usually present with tall stature and eunuchoid features, rather than growth retardation. However, unlike the classic form of the disease, short stature due to a lack of pubertal growth spurt and sex hormone deficiency was present in our four cases. We wanted to emphasize that short stature might be the cause of first presentation in patients with 17 OHD.