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Mixed hypogonadism: a neglected combined form of hypogonadism

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Abstract

Purpose

Kallmann syndrome is a rare disease characterized by delayed puberty, infertility and anosmia. We report the clinical and genetic characteristics of three patients with Kallmann syndrome who presented with Klinefelter syndrome and defined this neglected combined form of hypogonadism as mixed hypogonadism.

Methods

Clinical data and examinations were obtained, including laboratory examination and magnetic resonance imagination (MRI) of the olfactory structures. Congenital hypogonadotropic hypogonadism (CHH) related genes were screened by next generation sequencing (NGS).

Results

Three patients with Kallmann syndrome were included. They had co-existence with Klinefelter syndrome and showed hypogonadotropic hypogonadism. Patient 1 was complicated with germinoma.

Conclusion

Mixed hypogonadism was defined as hypogonadotropic hypogonadism in Klinefelter syndrome or primary testicular disease. Clinicians should be alert to mixed hypogonadism when spermatogenesis induction failed in patients with CHH or gonadotropin levels decrease in patients with Klinefelter syndrome.

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Author contributions

Conceived and designed the experiments: X.Y.W.; collected clinical data: R.Z., B.Q.Y., W.J., W.L.M., Q.B.H., Y.Y.Z.; literature review: B.Q.Y., R.Z., J.Y.Z., B.S., H.Y.L., W.Z.; write the paper: R.Z., J.F.M., B.Q.Y.; revise the paper: X.Y.W., J.F.M., X.W., M.N.. All authors have approved the final draft of the paper.

Funding

Funding

This work was supported by the Project of National Natural Science Foundation of China (81771576, 81971375); the Beijing Municipal Natural Science Foundation (7202151, 7212080); and the Peking Union Medical College Hospital Youth Research Fund (pumch201911009).

Author information

Author notes

  1. These authors contributed equally: Rui Zhang, Bingqing Yu

Authors and Affiliations

  1. Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China

    Rui Zhang, Bingqing Yu, Xi Wang, Min Nie, Wanlu Ma, Wen Ji, Qibin Huang, Yiyi Zhu, Bang Sun, Junyi Zhang, Wei Zhang, Hongying Liu, Jiangfeng Mao & Xueyan Wu

  2. Department of Ultrasonography, Peking University First Hospital, 100081, Beijing, China

    Bingqing Yu

  3. Department of Endocrinology, China-Japan Friendship Hospital, Beijing, China

    Wanlu Ma

  4. Department of Endocrinology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China

    Wen Ji

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  1. Rui Zhang
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Corresponding authors

Correspondence to Jiangfeng Mao or Xueyan Wu.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee (Ethics committee of Peking Union Medical College Hospital; SK1610) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Zhang, R., Yu, B., Wang, X. et al. Mixed hypogonadism: a neglected combined form of hypogonadism. Endocrine 83, 488–493 (2024). https://doi.org/10.1007/s12020-023-03532-2

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