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male congenital hypogonadotropic hypogonadism

Thursday 20 October 2011

Congenital hypogonadotropic hypogonadism (CHH) causes pubertal failure and infertility in both women and men, due to partial or total secretory failure of the two pituitary gonadotropins lutropin (LH) and follitropin (FSH) during periods of physiological activation of the gonadotropic axis.

Men and women with CHH frequently seek treatment for infertility after hypogonadism therapy.

Some etiologies, such as autosomal dominant or X‑linked Kallmann syndrome, raise the question of hereditary transmission, leading to increasing demands for genetic counseling and monitoring of medically assisted pregnancies.

Diagnosis and treatment of newborn boys is, therefore, becoming an increasingly important issue.

In male individuals with complete forms of CHH, the antenatal and neonatal gonadotropin deficit leads to formation of a micropenis and cryptorchidism, which could undermine future sexual and reproductive functions.

Standard treatments, usually started after the age of puberty, often only partially correct the genital abnormalities and spermatogenesis.

Genes involved in isolated CHH, Kallmann syndrome and syndromic CHH associated with cryptorchidism and/or micropenis

- Normosmic CHH

  • CNRH1, GNRHR, KISS1R, TAC3, TACR3

- Kallmann syndrome

  • KAL1, FGFR1, FGF8, PROK2, PROKR2, WDR11, NELF

- Complex syndromic CHH

  • CHD7, PROP1