Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism

• DOI: 10.4274/jcrpe.galenos.2024.2023-12-1
• Publication Date: 2024-04-22T14:02:48Z
• Authors: Yee Lin Lee; Tzer Hwu Ting; Chong Teik Lim; Karuppiah Thilaka...; Nurul Huda Musa; King Hwa Ling
• Keywords: Identification

What is already known on this topic?• IGSF1 mutation the most common cause of X-linked recessive mild to moderate isolated central hypothyroidism.• It associated with macroorchidism delayed pubertal testosterone rise, large birth weight, increased body mass index, low prolactin and transient growth hormone deficiency study adds?• A novel c.3467T>A variant was found in 2 siblings hypothyroidism macroorcidism, first report South East Asia.• Genetic evaluation for important patients unexplained +/macroorchidism enable early detection treatment other similarly affected family members.