Gonadotropin receptor mutations

Journal of Endocrinology

Volumn 153, Issue 2, 1997, Pages 179-183

  Themmen, A P N ^a   Martens, J W M ^a   Brunner, H G ^b  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN RECEPTOR; LUTEINIZING HORMONE RECEPTOR;

ENDOCRINE DISEASE; FEMALE; HUMAN; MALE; MOLECULAR BIOLOGY; MUTATION; PRIORITY JOURNAL; REVIEW;

FEMALE; GENES, DOMINANT; HERMAPHRODITISM; HUMANS; MALE; MUTATION; PHENOTYPE; PUBERTY, PRECOCIOUS; RECEPTORS, FSH; RECEPTORS, GONADOTROPIN; RECEPTORS, LH;

EID: 0030986566     PISSN: 00220795     EISSN: None     Source Type: Journal    
DOI: 10.1677/joe.0.1530179     Document Type: Review

References (33)

1. Aittomaki K 1994 The genetics of XX gonadal dysgenesis. American Journal of Human Genetics 54 844-851.
2. Aittomaki K, Dieguez Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E-M, Lehvaslaiho H, Reyes Engel A, Nieschlag E, Huhtaniemi I & de la Chapelle A 1995 Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82 959-968.
3. Babovic-Vuksanovic D, Donaldson MD, Gibson NA & Wallace AM 1994 Hazards of ketoconazole therapy in testotoxicosis. Acta Paediatrica 83 994-997.
4. Bhowmick N, Huang JN, Puett D, Isaacs NW & Lapthorn AJ 1996 Determination of residues important in hormone binding to the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling. Molecular Endocrinology 10 1147-1159.
5. Chenevix-Trench G, Healey S & Martin NG 1993 Reproductive hormone genes in mothers of spontaneous dizygotic twins: an association study. Human Genetics 91 118-120.
6. Fauser BC, Donderwinkel P & Schoot DC 1993 The step-down principle in gonadotrophin treatment and the role of GnRH analogues. [Review]. Baillieres Clinical Obstetrics and Gynaecology 7 309-330.
7. Fritz IB, Louis BG, Griswold MD & Dorrington JH 1978 Paradox of the dose response to polypeptide hormones. National Cancer Institute Monographs 48 381-382.
8. Gondos B, Egli CA, Rosenthal SM & Grumbach MM 1985 Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. Archives of Pathology and Laboratory Medicine 109 990-995.
9. Gromoll J, Simoni M & Nieschlag E 1996 An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. Journal of Clinical Endocrinology and Metabolism 81 1367-1370.
10. Kosugi S, van Dop C, Geffner ME, Rabi W, Carel JC, Chaussain JL, Mori T, Merendino JJ & Shenker A 1995 Characterization of heterogenous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. Human Molecular Genetics 4 183-188.
11. Kraaij R, Post M, Kremer H, Milgrom E, Epping W, Brunner HG, Grootegoed JA & Themmen APN 1995 A missense mutation in the second transmembrane domain of the luteinizing hormone receptor causes familial male-limited precocious puberty. Journal of Clinical Endocrinology and Metabolism 80 3168-3172.
12. Kremer H, Mariman E, Otten BJ, Moll G, Jr., Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH & Brunner HG 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Human Molecular Genetics 2 1779-1783.
13. Kremer H, Kraaij R, Toledo SPA, Post M, Fridman JB, Hayashida CY, Van Reen M, Milgrom E, Ropers HH, Mariman E, Themmen APN & Brunner HG 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nature Genetics 9 160-164.
14. Latronico AC, Anasti J, Mendonca BB, Arnhold I, Domenice S, Albano MC, Wajchenberg BL, Zachman K & Tsigos C 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. Annual Meeting of the Endocrine Society, Washington DC, P3-P35.
15. Latronico AC, Anasti J, Arnhold IJ, Rapaport R, Mendonca BB, Bloise W, Castro M, Tsigos C & Chrousos GP 1996 Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. New England Journal of Medicine 334 507-512.
16. Laue LL, Chan WY, Hsueh AJW, Kudo M, Hsu SY, Wu SM, Blomberg L & Cutler GB Jr 1995a Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proceedings of the National Academy of Sciences of the USA 92 1906-1910.
17. Laue LL, Wu SM, Jelly DH, Cutler GB Jr & Chan WY 1995b A novel constitutively activating mutation of the human luteinizing hormone (hLHR) gene in an african American patient with 'sporadic' male-limited precocious puberty. Annual Meeting of the Endocrine Society, Washington DC, P3-P36.
18. Laue LL, Wu S-M, Kudo M, Hsueh AJW, Cutler GB Jr, Griffin JE, Wilson JD, Brain C, Berry AC, Grant DB & Chan W-Y 1995c A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. Human Molecular Genetics 4 1429-1433.
19. Laue LL, Wu S-M, Kudo M, Bourdony CJ, Cutler GB Jr, Hsueh AJW & Chan W-Y 1996 Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Molecular Endocrinology 10 987-997.
20. Martin NG, Olsen ME, Theile H, El Beaini JL, Handelsman D & Bhatnagar AS 1984 Pituitary-ovarian function in mothers who have had two sets of dizygotic twins. Fertility and Sterility 41 878-880.
21. Martin NG, Robertson DM, Chenevix-Trench G, de Kretser DM, Osborne J & Burger HG 1991 Elevation of follicular phase inhibin and luteinizing hormone levels in mothers of dizygotic twins suggests nonovarian control of human multiple ovulation. Fertility and Sterility 56 469-474.
22. Minegishi T, Nakamura K, Takakura Y, Miyamoto K, Hasegawa Y, Ibuki Y & Igarashi M 1990 Cloning and sequencing of human LH/hCG receptor cDNA. Biochemical and Biophysical Research Communications 172 1049-1054.
23. Misrahi M, Pissard S, Meduri G, Bouvatticr C, Chaussain JL, Milgrom E & Bougneres PF 1996 Hypospadias and micropenis associated with a homozygous mutation of the luteinizing hormone receptor (LH/CGR) gene. 35th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) Abstract 12.
24. Rosenthal IM, Refetoff S, Rich B, Barnes RB, Sunthornthepvarakul T, Parma J & Rosenfield RL 1996 Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constiturively activating mutation of the luteinizing hormone receptor - a clinical research center study. Journal of Clinical Endocrinology and Metabolism 81 3802-3806.
25. van Santbrink EJ, Hop WC, van Dessel TJ, de Jong FH & Fauser BC 1995 Decremental follicle-stimulating hormone and dominant follicle development during the normal menstrual cycle. Fertility and Sterility 64 37-43.
26. Shenker A, Laue L, Kosugi S, Merendino J Jr, Minegishi T & Cutler GB Jr 1993 A constiturively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365 652-654.
27. Themmen APN & Brunner HG 1996 Luteinizing hormone receptor mutations and sex differentiation. European Journal of Endocrinology 134 533-540.
28. Toledo SP 1992 Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this [letter; comment]. Clinical Endocrinology 36 521-522.
29. Toledo SP, Arnhold IJ, Luthold W, Russo EM & Saldanha PH 1985 Leydig cell hypoplasia determining familial hypergonadotropic hypogonadism. Progress in Clinical Biology Research 200 311-314.
30. Toledo SPA, Brunner HG, Kraaij R, Post M, Dahia PLM, Hayashida CY, Kremer H & Themmen APN 1996 An inactivating mutation of the LH receptor causes amenorrhea in a 46,XX female. Journal of Clinical Endocrinology and Metabolism 81 3850-3854.
31. Tonacchera M, Cetani F, Costagliola S, Vansande J, Refetoff S & Vassart G 1996 Functional characteristics of a variant thyrotropin receptor. European Journal of Biochemistry 238 490-494.
32. Yano K, Saji M, Hidaka A, Moriya N, Okuno A, Kohn LD & Cutler GB Jr 1995 A new constiturively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. Journal of Clinical Endocrinology and Metabolism 80 1162-1168.
33. Yano K, Kohn LD, Saji M, Kataoka N, Okuno A & Cutler GB Jr 1996 A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene. Biochemical and Biophysical Research Communications 220 1036-1042.