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Congenital Hypogonadotropic Hypogonadism of Pituitary Origin and Rare Syndromes with Central Hypogonadism

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Abstract

Hypogonadotropic hypogonadism (HH) can be of hypothalamic or pituitary origin. In hypogonadism caused by the pituitary gland, pulsatile LH and FSH release from gonadotropic cells of the anterior pituitary is quantitively or qualitatively altered, despite uncompromised hypothalamic GnRH stimulation.

Congenital forms of pituitary-derived hypogonadism result either from malformations of the anterior pituitary or from aplasia of the pituitary stalk. These entities are generally associated with impairments of other pituitary-endocrine axes, such as the somatotropic, thyrotropic, and corticotropic axis. By contrast, the lactotropic axis is rarely involved in congenital multiple pituitary hormone deficiencies.

Peripartum pituitary trauma is a rare cause of early acquired hypopituitarism with congenital multiple pituitary insufficiencies.

X-linked adrenal hypoplasia congenita (AHC) is caused by a deletion or mutation in the NROB1(=DAX1) gene. It entrains adrenocortical insufficiency, combined with dysfunction at all levels of the hypothalamic-pituitary gonadal (HPG) axis.

Syndromal disorders arising from chromosomal anomalies or disease-causing gene mutations may also involve hypogonadism. There may either be an impairment of the central HPG axis or primary gonadal dysfunction, or a combination of both.

In Prader-Willi(-Labhart) syndrome, both central and gonadal HPG axis functions are altered.

In CHARGE syndrome, hypogonadotropic hypogonadism is of hypothalamic origin.

In Bardet-Biedl syndrome, hypogonadism is most likely of combined central and gonadal cause.

In Gordon-Holmes syndrome, Boucher-Neuhauser syndrome, and Oliver-Mc-Farlane syndrome, hypogonadotropic hypogonadism of pituitary origin is typical, in addition to cerebellar ataxia.

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Authors and Affiliations

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

    Julia Rohayem

  2. MVZ endokrinologikum Hamburg, Hamburg, Germany

    Carl-Joachim Partsch

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

    Eberhard Nieschlag

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  1. Julia Rohayem
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  2. Carl-Joachim Partsch
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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., Partsch, CJ., Nieschlag, E. (2023). Congenital Hypogonadotropic Hypogonadism of Pituitary Origin and Rare Syndromes with Central Hypogonadism. In: Nieschlag, E., Behre, H.M., Kliesch, S., Nieschlag, S. (eds) Andrology. Springer, Cham. https://doi.org/10.1007/978-3-031-31574-9_13

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