Brief report: Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene

被引:78
作者
Valdes-Socin, H
Salvi, R
Daly, AF
Gaillard, RC
Quatresooz, P
Tebeu, P
Pralong, FP
Beckers, A
机构
[1] Ctr Hosp Liege, Dept Endocrinol, B-4000 Liege, Belgium
[2] Ctr Hosp Liege, Dept Dermatopathol, B-4000 Liege, Belgium
[3] Univ Hosp, Div Endocrinol Diabetol & Metab, Lausanne, Switzerland
[4] Univ Yaounde, Dept Obstet & Gynecol, Yaounde, Cameroon
关键词
D O I
10.1056/NEJMoa040326
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A 30-year-old man who presented with delayed puberty and infertility was found to have hypogonadism associated with an absence of circulating luteinizing hormone. The patient had a homozygous missense mutation in the gene that encodes the beta subunit of luteinizing hormone (Gly36Asp), a mutation that disrupted a vital cystine knot motif and abrogated the heterodimerization and secretion of luteinizing hormone. Treatment with human chorionic gonadotropin increased circulating testosterone, promoted virilization, and was associated with the appearance of normal spermatozoa in low concentrations. This case illustrates the important physiological role that luteinizing hormone plays in male sexual maturation and fertility.
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页码:2619 / 2625
页数:7
相关论文
共 25 条
[1]   Fertility and infertility: Genetic contributions from the hypothalamic-pituitary-gonadal axis [J].
Achermann, JC ;
Jameson, JL .
MOLECULAR ENDOCRINOLOGY, 1999, 13 (06) :812-818
[2]  
Alevizaki Maria, 2002, Hormones (Athens), V1, P224
[3]   Male contraception [J].
Anderson, RA ;
Baird, DT .
ENDOCRINE REVIEWS, 2002, 23 (06) :735-762
[4]   HYPOGONADISM IN A MALE WITH IMMUNOLOGICALLY ACTIVE, BIOLOGICALLY INACTIVE LUTEINIZING-HORMONE - EXCEPTION TO A VENERABLE RULE [J].
AXELROD, L ;
NEER, RM ;
KLIMAN, B .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1979, 48 (02) :279-287
[5]   LEYDIG-CELL AGENESIS - CAUSE OF MALE PSEUDOHERMAPHRODITISM [J].
BERTHEZENE, F ;
FOREST, MG ;
GRIMAUD, JA ;
CLAUSTRAT, B ;
MORNEX, R .
NEW ENGLAND JOURNAL OF MEDICINE, 1976, 295 (18) :969-972
[6]  
CORLESS CL, 1987, J BIOL CHEM, V262, P14197
[7]   RECOGNITION OF GONADOTROPH ADENOMAS IN WOMEN [J].
DANESHDOOST, L ;
GENNARELLI, TA ;
BASHEY, HM ;
SAVINO, PJ ;
SERGOTT, RC ;
BOSLEY, TM ;
SNYDER, PJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (09) :589-594
[8]   Cystine knot mutations affect the folding of the glycoprotein hormone α-subunit -: Differential secretion and assembly of partially folded intermediates [J].
Darling, RJ ;
Ruddon, RW ;
Perini, F ;
Bedows, E .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (20) :15413-15421
[9]   Functional contributions of noncysteine residues within the cystine knots of human chorionic gonadotropin subunits [J].
Darling, RJ ;
Wilken, JA ;
Miller-Lindbolm, AK ;
Urlacher, TM ;
Ruddon, RW ;
Sherman, SA ;
Bedows, E .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (14) :10692-10699
[10]   Novel recombinant gonadotropins [J].
Garcia-Campayo, V ;
Boime, I .
TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2001, 12 (02) :72-77