The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

In conclusion, male hemizygous carriers of a pathogenic IGSF1 variant can present with FT4 levels above the lower limit of the reference range, and severe early onset obesity or premature testicular growth are part of the phenotypic spectrum. PMID: 33045800 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research