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Background <p><i>SOX11 </i>variants have been associated with Coffin–Siris syndrome and a broader neurodevelopmental spectrum (IDDMOH), but their role in isolated or syndromic hypogonadotropic hypogonadism (HH) remains under-recognized.</p> Case presentation <p>We report a 13-year-old Chinese girl who presented with delayed puberty (Tanner B1, PH1), infantile uterus and low basal gonadotropins. Trio whole-exome sequencing identified a de-novo heterozygous <i>SOX11</i> c.346_348del (p.Tyr116del) variant. Olfactory and pituitary MRI revealed bilateral olfactory-bulb/nerve hypoplasia and a pituitary height of 3.4&#xa0;mm, fulfilling Kallmann-syndrome criteria. GnRH-pump therapy restored gonadotropin output within 72&#xa0;h. A systematic literature review of 32 additional <i>SOX11</i>-related HH cases (total <i>n</i> = 33) showed that 25/26 phenotyped individuals exhibited Coffin–Siris-compatible features, whereas 13/33 met Kallmann-syndrome criteria. Thirty unique variants were identified, 17/30 clustering within the HMG domain and 15/18 proven de-novo.</p> Conclusions <p><i>SOX11</i> should be included in Kallmann syndrome gene panels. We propose “<i>SOX11</i>-related disorder” as an overarching diagnostic framework for all individuals with <i>SOX11</i> likely pathogenic/pathogenic variants, mandating comprehensive baseline evaluation—including endocrine assessment, neurodevelopmental screening, and MRI of olfactory tracts and pituitary—regardless of initial presentation.</p>

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A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月21日

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  • Shanshan Chu,
  • Xuewen Yuan,
  • Qing Niu,
  • Wei Gu

摘要

Background

SOX11 variants have been associated with Coffin–Siris syndrome and a broader neurodevelopmental spectrum (IDDMOH), but their role in isolated or syndromic hypogonadotropic hypogonadism (HH) remains under-recognized.

Case presentation

We report a 13-year-old Chinese girl who presented with delayed puberty (Tanner B1, PH1), infantile uterus and low basal gonadotropins. Trio whole-exome sequencing identified a de-novo heterozygous SOX11 c.346_348del (p.Tyr116del) variant. Olfactory and pituitary MRI revealed bilateral olfactory-bulb/nerve hypoplasia and a pituitary height of 3.4 mm, fulfilling Kallmann-syndrome criteria. GnRH-pump therapy restored gonadotropin output within 72 h. A systematic literature review of 32 additional SOX11-related HH cases (total n = 33) showed that 25/26 phenotyped individuals exhibited Coffin–Siris-compatible features, whereas 13/33 met Kallmann-syndrome criteria. Thirty unique variants were identified, 17/30 clustering within the HMG domain and 15/18 proven de-novo.

Conclusions

SOX11 should be included in Kallmann syndrome gene panels. We propose “SOX11-related disorder” as an overarching diagnostic framework for all individuals with SOX11 likely pathogenic/pathogenic variants, mandating comprehensive baseline evaluation—including endocrine assessment, neurodevelopmental screening, and MRI of olfactory tracts and pituitary—regardless of initial presentation.