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Context <p>Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by deficient secretion or action of gonadotropin-releasing hormone. While its characteristics are well-documented in adults, data from prepubertal patients remain limited.</p> Objective <p>To investigate the clinical, hormonal, and genetic characteristics of CHH in male patients aged &lt; 18 years and assess age-related changes in testicular function.</p> Design <p>Retrospective analysis of data from patients with CHH.</p> Setting <p>Tertiary pediatric endocrine referral center.</p> Patients <p>Overall, 121 male patients with CHH, aged 0–18 years, were included.</p> Main outcome measures <p>Hormonal profiles, genetic variants, and testicular function indicators across different age groups.</p> Results <p>All patients had micropenis, and 41.3% had cryptorchidism. The &gt; 14-year group had fewer combined cases of both conditions but more isolated micropenis (<i>p</i> = 0.001). Inhibin B, luteinizing hormone, follicle-stimulating hormone, and post-human chorionic gonadotropin testosterone levels were significantly higher in the ≤ 3-year group (<i>p</i> &lt; 0.05). Leydig and Sertoli cell function declined with age. Inhibin B &lt; 33.895 pg/mL and anti-Müllerian hormone (AMH) &lt; 17.545 ng/mL predicted Leydig cell dysfunction with sensitivities of 78.5% and 85.7% and specificities of 82.3% and 73.8%, respectively. Pathogenic variants were identified in 84.6% of cases, with <i>fibroblast growth factor receptor 1</i>, <i>chromodomain helicase DNA-binding protein 7</i>, and <i>prokineticin receptor 2</i> being the most frequently impacted.</p> Conclusions <p>CHH should be suspected in boys with micropenis and cryptorchidism. AMH and inhibin B are key markers for early detection of Leydig cell dysfunction, with genetic testing being essential for diagnosis.</p>

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Clinical and genetic characteristics of boys with congenital hypogonadotropic hypogonadism: a single-center experience

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月25日

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  • Dongxia Fu,
  • Yongxing Chen,
  • Xue Wu,
  • Huizhen Wang,
  • Jing Gao,
  • Haiyan Wei

摘要

Context

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by deficient secretion or action of gonadotropin-releasing hormone. While its characteristics are well-documented in adults, data from prepubertal patients remain limited.

Objective

To investigate the clinical, hormonal, and genetic characteristics of CHH in male patients aged < 18 years and assess age-related changes in testicular function.

Design

Retrospective analysis of data from patients with CHH.

Setting

Tertiary pediatric endocrine referral center.

Patients

Overall, 121 male patients with CHH, aged 0–18 years, were included.

Main outcome measures

Hormonal profiles, genetic variants, and testicular function indicators across different age groups.

Results

All patients had micropenis, and 41.3% had cryptorchidism. The > 14-year group had fewer combined cases of both conditions but more isolated micropenis (p = 0.001). Inhibin B, luteinizing hormone, follicle-stimulating hormone, and post-human chorionic gonadotropin testosterone levels were significantly higher in the ≤ 3-year group (p < 0.05). Leydig and Sertoli cell function declined with age. Inhibin B < 33.895 pg/mL and anti-Müllerian hormone (AMH) < 17.545 ng/mL predicted Leydig cell dysfunction with sensitivities of 78.5% and 85.7% and specificities of 82.3% and 73.8%, respectively. Pathogenic variants were identified in 84.6% of cases, with fibroblast growth factor receptor 1, chromodomain helicase DNA-binding protein 7, and prokineticin receptor 2 being the most frequently impacted.

Conclusions

CHH should be suspected in boys with micropenis and cryptorchidism. AMH and inhibin B are key markers for early detection of Leydig cell dysfunction, with genetic testing being essential for diagnosis.