Scopus
YÖKSİS Eşleşti
An unusual case of 17-hydroxylase deficiency presenting with short stature
Archives de Pediatrie · Ağustos 2024
YÖKSİS Kayıtları
An unusual case of 17-hydroxylase deficiency presenting with short stature
Archives de Pédiatrie · 2024 SCI-Expanded
DOKTOR ÖĞRETİM ÜYESİ FATMA ÖZGÜÇ ÇÖMLEK →
Makale Bilgileri
DergiArchives de Pediatrie
Yayın TarihiAğustos 2024
Cilt / Sayfa31 · 400-402
Scopus ID2-s2.0-85198338081
Özet
17α-Hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are necessary for the production of cortisol and sex steroids. Females with 17α-hydroxylase deficiency usually present with primary amenorrhea and delayed puberty accompanied by hypertension and electrolyte imbalance. Here, we report the case of a 14-year-old female patient who presented with severe short stature and delayed puberty without any complaint suggestive of 17-hydroxylase enzyme deficiency. Laboratory test results showed low cortisol and dehydroepiandrosterone sulfate (DHEA-S) along with high luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Turner syndrome was excluded after genetic analysis showed a 46,XX karyotype, and 17α-hydroxylase deficiency was diagnosed by detecting a c.1319G>A (p.Arg440His) variation/alternation in the patient's CYP17A1 gene.
Yazarlar (2)
1
Fatma Özgüç Çömlek
ORCID: 0000-0002-2752-3480
2
Uğur Gümüş
ORCID: 0000-0003-0024-9079
Anahtar Kelimeler
17-Alpha-hydroxylase deficiency
Delayed puberty
Short stature
Kurumlar
Dr. Ersin Arslan Training and Research Hospital
Sahinbey, Gaziantep Turkey
Gaziantep Children's Hospital
Gaziantep Turkey