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Luteinizing hormone resistance, female

MedGen UID:
777147
•Concept ID:
C3668935
•
Disease or Syndrome
Synonym: Luteinizing Hormone Resistance, Female
 
OMIM®: 152790; 238320

Professional guidelines

PubMed

The undescended testis: diagnosis, treatment and long-term consequences.
Mathers MJ, Sperling H, Rübben H, Roth S
Dtsch Arztebl Int 2009 Aug;106(33):527-32. Epub 2009 Aug 14 doi: 10.3238/arztebl.2009.0527. PMID: 19738919Free PMC Article
Inactivating mutations of LH and FSH receptors--from genotype to phenotype.
Latronico AC, Arnhold IJ
Pediatr Endocrinol Rev 2006 Sep;4(1):28-31. PMID: 17021580
Testicular histology following chronic gonadotropin-releasing hormone agonist treatment.
Rajfer J, Swerdloff RS, Heber DM
Fertil Steril 1984 Nov;42(5):765-71. doi: 10.1016/s0015-0282(16)48205-1. PMID: 6436070

Recent clinical studies

Etiology

A rare cause of primary amenorrhea: LHCGR gene mutations.
Aktar Karakaya A, Çayır A, Unal E, Beştaş A, Ece Solmaz A, Kenan Haspolat Y
Eur J Obstet Gynecol Reprod Biol 2022 May;272:193-197. Epub 2022 Mar 19 doi: 10.1016/j.ejogrb.2022.03.033. PMID: 35366614
Birth Weight in Different Etiologies of Disorders of Sex Development.
Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S, Lisa L, Guran T, Cools M, Desloovere A, Claahsen-van der Grinten HL, Nordenstrom A, Holterhus PM, Kohler B, Niedziela M, Krone N
J Clin Endocrinol Metab 2017 Mar 1;102(3):1044-1050. doi: 10.1210/jc.2016-3460. PMID: 28359094
Impaired testicular function after an ifosfamide-containing regimen for pediatric osteosarcoma: a case series and review of the literature.
Kenney LB, Duffey-Lind E, Ebb D, Sklar CA, Grier H, Diller L
J Pediatr Hematol Oncol 2014 Apr;36(3):237-40. doi: 10.1097/MPH.0b013e3182a27c39. PMID: 24667129
The undescended testis: diagnosis, treatment and long-term consequences.
Mathers MJ, Sperling H, Rübben H, Roth S
Dtsch Arztebl Int 2009 Aug;106(33):527-32. Epub 2009 Aug 14 doi: 10.3238/arztebl.2009.0527. PMID: 19738919Free PMC Article
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Diagnosis

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.
Hassan HA, Mazen I, Elaidy A, Kamel AK, Eissa NR, Essawi ML
Hormones (Athens) 2024 Jun;23(2):305-312. Epub 2024 Mar 25 doi: 10.1007/s42000-024-00546-x. PMID: 38526829Free PMC Article
Consanguinity and disorders of sex development.
Bashamboo A, McElreavey K
Hum Hered 2014;77(1-4):108-17. Epub 2014 Jul 29 doi: 10.1159/000360763. PMID: 25060274
Impaired testicular function after an ifosfamide-containing regimen for pediatric osteosarcoma: a case series and review of the literature.
Kenney LB, Duffey-Lind E, Ebb D, Sklar CA, Grier H, Diller L
J Pediatr Hematol Oncol 2014 Apr;36(3):237-40. doi: 10.1097/MPH.0b013e3182a27c39. PMID: 24667129
46,XY DSD due to impaired androgen production.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. PMID: 20541150
The undescended testis: diagnosis, treatment and long-term consequences.
Mathers MJ, Sperling H, Rübben H, Roth S
Dtsch Arztebl Int 2009 Aug;106(33):527-32. Epub 2009 Aug 14 doi: 10.3238/arztebl.2009.0527. PMID: 19738919Free PMC Article

Therapy

Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia.
Bakircioglu ME, Tulay P, Findikli N, Erzik B, Gultomruk M, Bahceci M
J Assist Reprod Genet 2014 Jul;31(7):817-21. Epub 2014 May 3 doi: 10.1007/s10815-014-0241-0. PMID: 24792890Free PMC Article
Impaired testicular function after an ifosfamide-containing regimen for pediatric osteosarcoma: a case series and review of the literature.
Kenney LB, Duffey-Lind E, Ebb D, Sklar CA, Grier H, Diller L
J Pediatr Hematol Oncol 2014 Apr;36(3):237-40. doi: 10.1097/MPH.0b013e3182a27c39. PMID: 24667129
46,XY DSD due to impaired androgen production.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. PMID: 20541150
Testicular histology following chronic gonadotropin-releasing hormone agonist treatment.
Rajfer J, Swerdloff RS, Heber DM
Fertil Steril 1984 Nov;42(5):765-71. doi: 10.1016/s0015-0282(16)48205-1. PMID: 6436070
Hypogonadism and Leydig cell hypoplasia unresponsive to human luteinizing hormone (hLH).
Wu RH, Rosenfeld R, Fukushima D
Am J Med Sci 1984 May-Jun;287(3):23-5. doi: 10.1097/00000441-198405000-00007. PMID: 6428228

Prognosis

The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
Nagy O, Kárteszi J, Hartwig M, Bertalan R, Jávorszky E, Erhardt É, Patócs A, Tornóczky T, Balogh I, Ujfalusi A
Mol Biol Rep 2019 Oct;46(5):5595-5601. Epub 2019 Jul 23 doi: 10.1007/s11033-019-04980-8. PMID: 31338750
Impaired testicular function after an ifosfamide-containing regimen for pediatric osteosarcoma: a case series and review of the literature.
Kenney LB, Duffey-Lind E, Ebb D, Sklar CA, Grier H, Diller L
J Pediatr Hematol Oncol 2014 Apr;36(3):237-40. doi: 10.1097/MPH.0b013e3182a27c39. PMID: 24667129
Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor.
Han B, Wang ZQ, Xue LQ, Ma JH, Liu W, Liu BL, Wu JJ, Pan CM, Chen X, Zhao SX, Lu YL, Wu WL, Qiao J, Song HD
Mol Hum Reprod 2012 Mar;18(3):129-35. Epub 2011 Oct 14 doi: 10.1093/molehr/gar065. PMID: 22002533Free PMC Article
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.
Qiao J, Han B, Liu BL, Chen X, Ru Y, Cheng KX, Chen FG, Zhao SX, Liang J, Lu YL, Tang JF, Wu YX, Wu WL, Chen JL, Chen MD, Song HD
Hum Mutat 2009 Sep;30(9):E855-65. doi: 10.1002/humu.21072. PMID: 19551906
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Clinical prediction guides

Birth Weight in Different Etiologies of Disorders of Sex Development.
Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S, Lisa L, Guran T, Cools M, Desloovere A, Claahsen-van der Grinten HL, Nordenstrom A, Holterhus PM, Kohler B, Niedziela M, Krone N
J Clin Endocrinol Metab 2017 Mar 1;102(3):1044-1050. doi: 10.1210/jc.2016-3460. PMID: 28359094
Molecular basis of androgen insensitivity.
Brinkmann AO
Mol Cell Endocrinol 2001 Jun 20;179(1-2):105-9. doi: 10.1016/s0303-7207(01)00466-x. PMID: 11420135
Ovarian resistance to luteinizing hormone: a novel cause of amenorrhea and infertility.
Arnhold IJ, Latronico AC, Batista MC, Carvalho FM, Chrousos GP, Mendonça BB
Fertil Steril 1997 Feb;67(2):394-7. doi: 10.1016/s0015-0282(97)81929-2. PMID: 9022621
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.
Toledo SP, Brunner HG, Kraaij R, Post M, Dahia PL, Hayashida CY, Kremer H Themmen AP
J Clin Endocrinol Metab 1996 Nov;81(11):3850-4. doi: 10.1210/jcem.81.11.8923827. PMID: 8923827
Gonadotrophin receptors.
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

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