A case of congenital central hypothyroidism caused by a novel variant (Gln1255ter) in igsf1 gene
JCRPE Journal of Clinical Research in Pediatric Endocrinology, cilt.13, sa.3, ss.353-357, 2021 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 13 Sayı: 3
- Basım Tarihi: 2021
- Doi Numarası: 10.4274/jcrpe.galenos.2020.2020.0149
- Dergi Adı: JCRPE Journal of Clinical Research in Pediatric Endocrinology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.353-357
- Anahtar Kelimeler: Central hypothyroidism, hypoprolactinemia, IGSF1
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked central hypothyroidism, and therefore its mutation affects mainly males. Central hypothyroidism in males is the hallmark of the disorder, however some patients additionally present with hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism. Here, we report a boy with congenital central hypothyroidism caused by a novel variant in the IGSF1 gene. In our patient, early testicular enlargement but delayed testosterone rise with central hypothyroidism and hypoprolactinemia were the most important clues for diagnosis. In genetic analysis, we identified a novel, hemizygous nonsense c.3763 C>T (G1n1255Ter) variant in IGSF1 gene. To our knowledge, this is the first reported case of IGSF1 deficiency from Turkey.