ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2021; 13(3): 353-357 | DOI: 10.4274/jcrpe.galenos.2020.2020.0149

A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene

Doğa Türkkahraman1, Nimet Karataş Torun2, Nadide Cemre Randa3
1University of Health Sciences Turkey, Antalya Training and Research Hospital, Clinic of Pediatric Endocrinology, Antalya, Turkey
2University of Healty Sciences Turkey, Antalya Training and Research Hospital, Clinic of Pediatrics, Antalya, Turkey
3University of Healty Sciences Turkey, Antalya Training and Research Hospital, Clinic of Medical Genetics, Antalya, Turkey

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.

Keywords: central hypothyroidism, hypoprolactinemia, IGSF1

Doğa Türkkahraman, Nimet Karataş Torun, Nadide Cemre Randa. A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene. J Clin Res Pediatr Endocrinol. 2021; 13(3): 353-357
Manuscript Language: English
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