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Hormones Gone Awry

Improved understanding of a congenital disorder affecting puberty and fertility

23 August 2019

Hormones Gone Awry

Spots, sweating and growing pains – puberty can feel awkward but it’s all part of normal development. However, for those with congenital hypogonadotropic hypogonadism (CHH), puberty never happens. Multiple genetic mutations cause CHH though only some have been identified. They lead to a deficiency in the hormone GnRH, with defective migration of neurons during brain development, and often an inability to smell. Researchers found novel mutations in a proportion of CHH patients which prevent the hormone AMH and its receptor AMHR2 from working. Here, AMH-containing GnRH neurons from a normal mouse are seen venturing outwards from developing nasal tissue (pictured, green), a process which occurs during normal development as these neurons journey to the brain to form connections essential in triggering puberty. Mice engineered to lack AMHR2 had defective neuron development within nasal tissue and defective GnRH neuron migration to the brain. Disrupted AMH signalling therefore contributes to CHH development.

Written by Lux Fatimathas

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BPoD stands for Biomedical Picture of the Day. Managed by the MRC Laboratory of Medical Sciences until Jul 2023, it is now run independently by a dedicated team of scientists and writers. The website aims to engage everyone, young and old, in the wonders of biology, and its influence on medicine. The ever-growing archive of more than 4000 research images documents over a decade of progress. Explore the collection and see what you discover. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.

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