Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11 -related Disorders
Authors' conclusion
Deleterious SOX11 variants cause IHH and other pituitary hormone deficiencies, suggesting that the human SOX11-associated disorder may stem from both hypothalamic and pituitary level defects.
Study context
- Population
- Unrelated probands with idiopathic hypogonadotropic hypogonadism (IHH), Massachusetts General Hospital
- Participants
- 1,810 unrelated IHH probands
- Comparison
- IHH cohort vs gnomAD population
- IHHn = 1,810
- Outcome
- Pathogenic SOX11 SNVs and enrichment in IHH
Methodological detailsexome sequencing, rare variant association testing vs gnomAD, single-centre
- Exome sequencing
- Rare variant association testing vs gnomAD
- Single-centre
Main finding
As reported in the abstract
Pathogenic SOX11 single nucleotide variants (SNVs) identified in IHH probands
4 SNVs in 5 probands
Further findings
Phenotypic spectrum of SOX11 variant carriers
- Coffin-Siris syndrome-associated features
- 4/5 probands
- Additional endocrine defects: anosmic and normosmic IHH, GH deficiency, pituitary and hypothalamic structural defects, hypothyroidism
- Pathogenic SOX11 SNV in a patient with functional hypogonadotropic hypogonadism (p.R100Q)
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11 -related Disorders. J Clin Endocrinol Metab. Published 18 September 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →