Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism

European Journal of Endocrinology

Volumn 155, Issue 2, 2006, Pages 201-205

  Antelli, Alessandra ^b   Baldazzi, Lilia ^a   Balsamo, Antonio ^b   Pirazzoli, Piero ^b   Nicoletti, Annalisa ^b   Gennari, Monia ^b   Cicognani, Alessandro ^b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; ETHINYLESTRADIOL; GONADORELIN; GONADORELIN RECEPTOR; GONADOTROPIN; HUMAN MENOPAUSAL GONADOTROPIN; MEDROXYPROGESTERONE ACETATE; NUCLEOTIDE; SEX HORMONE;

ADOLESCENT; ARTICLE; CASE REPORT; DELAYED PUBERTY; DISEASE COURSE; FEMALE; GENE ACTIVITY; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GONADORELIN TEST; HETEROZYGOTE; HORMONE DETERMINATION; HORMONE RECEPTOR INTERACTION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARENT; PATIENT REFERRAL; PHENOTYPE; POLYMERASE CHAIN REACTION; PREPUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

ADOLESCENT; ADULT; FEMALE; GONADOTROPINS; HUMANS; HYPOGONADISM; LIGANDS; MALE; MUTATION, MISSENSE; PREGNANCY; RECEPTORS, LHRH; SIBLINGS;

EID: 33747668108     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.02198     Document Type: Article

References (16)

1. Layman LC. Genetics of human hypogonadotropic hypogonadism. American Journal of Medical Genetics 1999 89 240-248.
2. Achermann JC, Ozisik G, Meeks JJ & Jameson L. Genetic cause of human reproductive disease. Journal of Clinical Endocrinology and Metabolism 2002 87 2447-2454.
3. Caron P, Chauvin S, Christin-Maitre S, Bennet A, Lahlou N, Counis R, Bouchard P & Kottler ML. Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. Journal of Clinical Endocrinology and Metabolism 1999 84 990-996.
4. Beranova M, Oliveira LM, Bedecarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF Jr & Semiara SB. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2001 86 1580-1588.
5. Pitteloud N, Boepple PA, DeCruz S, Valkenburgh SB, Crowley WF Jr & Hayes FJ. The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. Journal of Clinical Endocrinology and Metabolism 2001 86 2470-2475.
6. Karges B, Karges W & de Roux N. Clinical and molecular genetics of the human GnRH receptor. Human Reproduction Update 2003 9 523-530.
7. Bhagavath B, Ozata M, Ozdemir IC, Bolu E, Bick DP, Sherins RJ & Layman LC. The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. Fertility and Sterility 2005 84 951-957.
8. Cheng CK & Leung PC. Molecular biology of gonadotropin-releasing hormone (GnRH)-I, GnRH-II, and their receptors in humans. Endocrine Reviews 2005 26 283-306.
9. Cacciari E, Milani S, Balsamo A, Dammacco F, De Luca F, Chiarelli F, Pasquino AM, Tonini G & Vanelli M. European Journal of Clinical Nutrition 2002 56 171-180.
10. de Roux N, Young J, Misrahi M, Genet R, Chanson F, Schaison G & Milgrom E. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. New England Journal of Medicine 1997 337 1597-1602.
11. Dewailly D, Boucher A, Decanter C, Lagarde JP, Counis R & Kottler ML. Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene. Fertility and Sterility 2002 77 1288-1291.
12. Pitteloud N, Hayes FJ, Boepple PA, DeCruz S, Seminara SB, MacLaughlin DT & Crowley WT Jr. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2002 87 152-160.
13. De Roux N, Young J, Brailly-Tabard S, Misrahi M, Milgrom E & Schaison G. The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. Journal of Clinical Endocrinology and Metabolism 1999 84 567-572.
14. Layman LC, Cohen DP, Jin M, Xie J, Li Z, Reindollar RH, Bolbolan S, Bick DP, Sherins RR, Duck LW, Musgrove LC, Sellers JC & Neill JD. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nature Genetics 1998 18 14-15.
15. Sealfon SC, Weinstein H & Millar RP. Molecular mechanisms of ligand interaction with the gonadotropin-releasing hormone receptor. Endocrine Reviews 1997 18 180-205.
16. Millar RP, Lu ZL, Pawson AJ, Flanagan CA, Morgan K & Maudsley SR. Gonadotropin-releasing hormone receptors. Endocrine Reviews 2004 25 235-275.