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

Human Reproduction

Volumn 23, Issue 8, 2008, Pages 1917-1923

  Bruysters, M ^a   Christin Maitre, S ^b,c   Verhoef Post, M ^a   Sultan, C ^d   Auger, J ^b   Faugeron, I ^b,c   Larue, L ^e   Lumbroso, S ^f   Themmen, A P N ^a   Bouchard, P ^b,c  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

^e GROUPE HOSPITALIER DIACONESSES CROIX SAINT SIMON   (France)

^f NÎMES UNIVERSITY HOSPITAL   (France)

Author keywords

LH receptor; Male hypogonadism; Menstrual cycle; Splice mutation

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; AZOOSPERMIA; CASE REPORT; DELAYED PUBERTY; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FEMALE; FEMALE INFERTILITY; GENE CONSTRUCT; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HYPOGONADISM; IN VITRO STUDY; INFERTILITY; INTRON; MALE; MENSTRUAL CYCLE; MICROPENIS; OLIGOSPERMIA; OVARY CYCLE; PEDIGREE; PHENOTYPE; PROTEIN EXPRESSION; REPORTER GENE; SIBLING; SPERMATOGENESIS;

EID: 47649089467     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/den180     Document Type: Article

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