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Congenital Hypogonadotropic Hypogonadism of Hypothalamic Origin

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Andrology

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Abstract

Testicular dysfunction of hypothalamic and/ or pituitary origin is referred to as “hypogonadotropic hypogonadism, HH.”

Hypothalamic GnRH deficiency results in inadequate pituitary gonadotropin stimulation of the testes and entails both impaired testosterone secretion and inadequate spermatogenesis.

Congenital forms of hypothalamic hypogonadotropic hypogonadism (CHH) occur with or without associated congenital impairments of olfaction. If anosmia is present, the condition is termed “Kallmann syndrome.”

Rarely, CHH is associated with primary adrenocortical insufficiency.

CHH may also be present in syndromic disorders.

Acquired hypothalamic hypogonadotropic hypogonadism may result from tumors or injuries within the suprasellar region, e.g., as a consequence of surgical interventions, irradiation, inflammation or ischemia in this area.

Acquired hypothalamic HH may also result from suppression or downregulation of the central hypothalamic-pituitary-gonadal (HPG) axis. This condition is potentially reversible if its cause is removed, and is therefore referred to as “functional hypogonadotropic hypogonadism.”

Effective hormonal treatment strategies are available for males with testosterone deficiency and infertility due to hypogonadotropic hypogonadism.

To date, the genetic origin of CHH and Kallmann syndrome can successfully be uncovered in up to 50% by molecular genetic analyses, most importantly next-generation sequencing (NGS). Men attempting biologic paternity should receive genetic counseling on the risks for transmission of their genetic variant(s) in a timely manner.

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Author information

Authors and Affiliations

  1. Center for Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Julia Rohayem

  2. Institute of Reproductive Genetics, University of Münster, Münster, Germany

    Frank Tüttelmann

  3. Center of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Eberhard Nieschlag

  4. Center for Reproductive Medicine and Andrology, University Hospital Halle (Saale), Halle (Saale), Germany

    Hermann M. Behre

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  1. Julia Rohayem
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  2. Frank Tüttelmann
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  4. Hermann M. Behre
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Correspondence to Julia Rohayem .

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Editors and Affiliations

  1. Center for Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Eberhard Nieschlag

  2. Center for Reproductive Medicine and Andrology, University Hospital Halle (Saale), Martin Luther University Halle-Wittenberg, Halle (Saale), Germany

    Hermann M. Behre

  3. Center for Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Sabine Kliesch

  4. Center for Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Susan Nieschlag

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Rohayem, J., Tüttelmann, F., Nieschlag, E., Behre, H.M. (2023). Congenital Hypogonadotropic Hypogonadism of Hypothalamic Origin. In: Nieschlag, E., Behre, H.M., Kliesch, S., Nieschlag, S. (eds) Andrology. Springer, Cham. https://doi.org/10.1007/978-3-031-31574-9_12

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  • DOI: https://doi.org/10.1007/978-3-031-31574-9_12

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