Improved understanding of a congenital disorder affecting puberty and fertility
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.
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