TURKISH JOURNAL OF PEDIATRICS, vol.62, no.5, pp.851-857, 2020 (SCI-Expanded)
Article / Article
TURKISH JOURNAL OF PEDIATRICS
Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
17 alpha-Hydroxylase deficiency, plasma CYP17A1 gene, MLPA analysis, short stature, 17-HYDROXYLASE, SECRETION
Inonu University Affiliated:
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.