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Gonadotrophin resistance.

Ilpo Huhtaniemi¹, Maria Alevizaki

¹Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 0NN, UK. ilpo.huhtaniemi@imperial.ac.uk

Best Practice & Research. Clinical Endocrinology & Metabolism

|December 13, 2006

Summary

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Gonadotrophin resistance, caused by mutations in luteinizing hormone (LH) and follicle-stimulating hormone (FSH) receptors, leads to hypogonadism and infertility. Early diagnosis is crucial for effective treatment of these rare conditions.

Area of Science:

Endocrinology
Genetics
Reproductive Medicine

Background:

Gonadotrophin resistance arises from inactivating mutations in luteinizing hormone (LH) and follicle-stimulating hormone (FSH) receptors.
This condition manifests as hypergonadotrophic hypogonadism and infertility in both sexes, presenting diagnostic challenges in sexual maturation disorders.

Purpose of the Study:

To elucidate the clinical spectrum and diagnostic importance of gonadotrophin resistance.
To differentiate the phenotypes associated with LH receptor (LHR) and FSH receptor (FSHR) inactivation.

Main Methods:

Review of clinical presentations and genetic basis of gonadotrophin resistance.
Differential diagnosis considerations for hypogonadism and infertility.

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Main Results:

LHR inactivation in 46,XY individuals causes variable male sexual differentiation disorders, from pseudohermaphroditism to cryptorchidism and hypospadias.
FSHR inactivation in men results in small testes and reduced spermatogenesis, while in women, it leads to amenorrhea and anovulatory infertility.
Phenotypes range from severe to incomplete forms with partial receptor responsiveness.

Conclusions:

Gonadotrophin resistance, though rare, necessitates careful diagnosis for appropriate patient management.
Understanding receptor inactivation phenotypes is key for distinguishing causes of hypogonadism and infertility.