Fanis · International journal of molecular sciences 2023 · narrative review · n=?

Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.

Cited 40 times in the scientific literature.

Level 5 - mechanism / opinion, no new human data

Narrative review of receptor biology, genetics, and pharmacology without original human data

PubMed 37958948 · doi:10.3390/ijms242115965 · record verified 2026-08-29

What was done

This narrative review summarizes the molecular structure, signaling pathways, genetic mutations, and therapeutic targeting of the gonadotropin-releasing hormone receptor (GnRHR) in the context of the hypothalamic-pituitary-gonadal axis, congenital hypogonadotropic hypogonadism (CHH), and related reproductive disorders.

What was found

The abstract reports no numerical data or quantitative outcomes. It describes key biological mechanisms: GnRHR activation stimulates pituitary gonadotropin release (LH and FSH) via G protein coupling, phospholipase C, inositol phosphate production, and protein kinase C. Homozygous, compound heterozygous, or digenic mutations in GNRHR result in normosmic CHH, delayed puberty, and infertility. Pharmacological modulators include agonists (which cause desensitization upon prolonged administration), antagonists, and pharmacoperones that directly rescue misfolded mutant receptors. GnRHR expression is also noted in peripheral reproductive and non-reproductive tissues (heart, muscle, liver, melanoma cells).

Why it matters

The review outlines how structural and genetic understanding of GnRHR informs the pathogenesis of hypogonadotropic hypogonadism and highlights emerging pharmacoperone therapies designed to correct receptor misfolding.

Limits

As a narrative review, the work provides no original experimental or clinical data, statistical comparisons, or quantitative effect sizes. Search strategy, study inclusion criteria, and formal risk-of-bias evaluations are not reported in the abstract.

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