Article (Scientific journals)
Hypogonadisme par déficience de LH.
Beckers, Albert
2007In Bulletin et Mémoires de l'Académie Royale de Médecine de Belgique, 162 (5-6), p. 291-7; discussion 298
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Keywords :
Adult; Biopsy; Chorionic Gonadotropin/administration & dosage/therapeutic use; Female; Fertilization in Vitro; Heterozygote; Humans; Hypogonadism/drug therapy/genetics; Infant, Newborn; Infertility, Male/blood/drug therapy/genetics; Luteinizing Hormone/deficiency/genetics; Luteinizing Hormone, beta Subunit/genetics; Male; Mutation; Pregnancy; Puberty, Delayed/etiology/genetics; Reproductive Control Agents/administration & dosage/therapeutic use; Spermatogenesis; Testis/pathology; Testosterone/blood/therapeutic use; Time Factors; Treatment Outcome; Adenohypophyseal hormone; Gonadotropin; Genital diseases; Medicine; Discussion; Luteinizing hormone; Hypogonadism; Hypogonadisme; Hormone adénohypophysaire; Gonadotrophine; Pathologie de l'appareil génital; Médecine; LH
Abstract :
[en] A 30-year-old man was investigated for delayed puberty and infertility. These investigations showed a complete absence of circulating luteinizing hormone (LH). Genetic studies revealed a missense mutation in the LHbeta gene (G36D). This mutation disrupts a vital cystine knot motif and abrogates the heterodimerization and secretion of LH. Treatment with hCG was instituted, which led to arise in testosterone and improvement in spermatogenesis. After in vitro fertilization the patient had a son who was heterozygous for the G36D mutation. A second patient with similar clinical and biological presentation has been explored. A non-frame shift deletion of 3 base-pairs was discovered at position 20 which led to the deletion of a lysine residue. The proband and his prepubescent brother were homozygotic for this mutation. These cases illustrate the important physiological role of LH in male sexual maturation and fertility.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Beckers, Albert ;  Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Language :
French
Title :
Hypogonadisme par déficience de LH.
Alternative titles :
[en] Hypogonadism due to LH deficiency
Publication date :
2007
Journal title :
Bulletin et Mémoires de l'Académie Royale de Médecine de Belgique
ISSN :
0377-8231
Publisher :
Académie Royale de Médecine de Belgique, Bruxelles, Belgium
Volume :
162
Issue :
5-6
Pages :
291-7; discussion 298
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 19 January 2011

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