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<p>Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder caused by a disruption of the hypothalamic-pituitary-gonadal axis, leading to a deficiency in gonadotropins and impaired gonadal function. The clinical presentation is heterogeneous and includes complete, partial, reversible, or syndromic forms. Clinical manifestations vary depending on the severity of the condition and range from genital anomalies at birth (e.g., micropenis, cryptorchidism) to absent pubertal development, including cases of delayed puberty or adult-onset infertility. Differential diagnosis with delayed puberty is often challenging due to overlapping phenotypic and hormonal features. The genetics of CHH is complex and involves mutations in more than 40 genes, many of which are part of receptor-ligand signalling pathways, with varying modes of inheritance (monogenic, oligogenic, incomplete penetrance), and influenced by epigenetic and environmental factors. The identification of shared mutations with other pubertal disorders and the reversibility observed in some cases support a multifactorial view of the condition. Early recognition and genetic characterisation are essential for targeted clinical management and to optimise therapeutic strategies and fertility outcomes.</p>

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Ipogonadismo ipogonadotropo congenito: nuovi aspetti clinici e molecolari

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月30日

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  • Rossella Cannarella,
  • Alessia Leonardi,
  • Aldo E. Calogero

摘要

Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder caused by a disruption of the hypothalamic-pituitary-gonadal axis, leading to a deficiency in gonadotropins and impaired gonadal function. The clinical presentation is heterogeneous and includes complete, partial, reversible, or syndromic forms. Clinical manifestations vary depending on the severity of the condition and range from genital anomalies at birth (e.g., micropenis, cryptorchidism) to absent pubertal development, including cases of delayed puberty or adult-onset infertility. Differential diagnosis with delayed puberty is often challenging due to overlapping phenotypic and hormonal features. The genetics of CHH is complex and involves mutations in more than 40 genes, many of which are part of receptor-ligand signalling pathways, with varying modes of inheritance (monogenic, oligogenic, incomplete penetrance), and influenced by epigenetic and environmental factors. The identification of shared mutations with other pubertal disorders and the reversibility observed in some cases support a multifactorial view of the condition. Early recognition and genetic characterisation are essential for targeted clinical management and to optimise therapeutic strategies and fertility outcomes.