A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister | Zendy

Martijn Bruysters | Zendy; Sophie ChristinMaître | Zendy; Miriam VerhoefPost | Zendy; C. Sultan | Zendy; Jacques Auger | Zendy; Isabelle Faugeron | Zendy; L Larue | Zendy; Serge Lumbroso | Zendy; A.P.N. Themmen | Zendy; Philippe Bouchard | Zendy

Open Access

A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister

Author(s) -

Martijn Bruysters,

Sophie ChristinMaître,

Miriam VerhoefPost,

C. Sultan,

Jacques Auger,

Isabelle Faugeron,

L Larue,

Serge Lumbroso,

A.P.N. Themmen,

Philippe Bouchard

Publication year - 2008

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/den180

Subject(s) - endocrinology , medicine , biology , azoospermia , spermatogenesis , male infertility , infertility , exon , oligospermia , genetics , andrology , gene , pregnancy

Inactivating LH receptor (LHR) mutations have been described so far in men as well as in women. Phenotypes in men have been variable with in nearly all cases impairment of sex differentiation or azoospermia. We report a milder reproductive phenotype both in a male patient and his sister.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research