Hypogonadotropic hypogonadism due to novel FGFR1 mutations
JCRPE Journal of Clinical Research in Pediatric Endocrinology, cilt.9, sa.2, ss.95-100, 2017 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 9 Sayı: 2
- Basım Tarihi: 2017
- Doi Numarası: 10.4274/jcrpe.3908
- Dergi Adı: JCRPE Journal of Clinical Research in Pediatric Endocrinology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.95-100
- Anahtar Kelimeler: FGFR1 mutations, Hypogonadotropic hypogonadism, Kallmann syndrome, Reduced penetrance
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
Özet
Objective: The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management. Methods: Using a candidate gene approach, we screened 52 IHH/KS patients. Results: We identified three novel (IVS3-1G>C and p.W2X, p.R209C) FGFR1 gene mutations. Despite predictive null protein function, patients from the novel mutation families had normosmic IHH without non-reproductive phenotype. Conclusion: These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS.