Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: Differential action of human chorionic gonadotropin and LH

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 6, 2000, Pages 2281-2286

  Gromoll, Jörg ^a   Eiholzer, Urs ^b   Nieschlag, Eberhard ^a   Simoni, Manuela ^a  

^a INST OF REPRO MED OF THE UNIV   (Germany)

^b Institute Growth Puberty Adolescence   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR; TESTOSTERONE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DELAYED PUBERTY; EXON; GENE DELETION; HETEROZYGOSITY; HUMAN; HYPERPLASIA; HYPOGONADISM; LEYDIG CELL; MALE; PRIORITY JOURNAL; TESTOSTERONE BLOOD LEVEL;

CALLITHRIX JACCHUS; MARMOSETS;

EID: 0034456625     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.85.6.6636     Document Type: Article

References (20)

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5. Structure of the human luteinizing hormone choriogonadotropin receptor gene: Unusual promoter and 5′ non-coding regions
6. Cloning and sequencing of human LH/hCG receptor cDNA
7. Structure of the luteinizing hormone receptor gene and multiple exons of the coding sequence
8. The lutropin/choriogonadotropin receptor 4 years later
9. The follicle stimulating hormone receptor: Biochemistry, molecular biology, physiology and pathophysiology
10. Cloning and functional expression of the luteinizing hormone receptor complementary deoxyribonucleic acid from the marmoset monkey testis: Absence of sequences encoding exon 10 in other species
11. The unique exon 10 of the human luteinizing hormone receptor is necessary for expression of the receptor protein at the plasma membrane in the human luteinizing homone receptor, but deleterious when inserted into the human follicle-stimulating hormone receptor
12. Comparison of mununocytochemical and molecular features with the phenotype in a case of incomplete pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
13. A homozygous microdeletion on helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor
14. Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia
15. Role of FSH in the regulation of spermatogenesis: Clinical aspects
16. Different roles of prepubertal and postpubertal germ cells and Sertoli cells in the regulation of serum inhibin B levels
17. Dynamics of the follicle-stimulating hormone (FSH)-inhibin B feedback loop and its role in regulating spermatogenesis in the adult male rhesus monkey (Macaca mulatta) as revealed by unilateral orchidectomy
18. The β-subunit of human choriogonadotropin interacts with the exodomain of the luteinizing hormone/choriogonadotropin receptor and changes its interaction with the α-subunit
19. Determination of residues important in hormone binding to the extracellular domain of the luteimzing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling
20. Lutropins appear to contact two independent sites in the extracellular domain of their receptors