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Leydig cell hypoplasia

MedGen UID:
449533
•Concept ID:
C0860158
•
Congenital Abnormality
Synonyms: Hypoplasia of the Leydig cells; Leydig cells hypoplasia
 
HPO: HP:0010790
Monarch Initiative: MONDO:0019155
Orphanet: ORPHA755

Definition

Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeydig cell hypoplasia
Follow this link to review classifications for Leydig cell hypoplasia in Orphanet.

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

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
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.
Kapczuk K, Kędzia W
Int J Mol Sci 2021 Oct 25;22(21) doi: 10.3390/ijms222111495. PMID: 34768925Free 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
Inactivating mutations of the human luteinizing hormone receptor in both sexes.
Latronico AC, Arnhold IJ
Semin Reprod Med 2012 Oct;30(5):382-6. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324721. PMID: 23044874
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

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
Müllerian Inhibiting Substance lowers testosterone in luteinizing hormone-stimulated rodents.
Trbovich AM, Sluss PM, Laurich VM, O'Neill FH, MacLaughlin DT, Donahoe PK, Teixeira J
Proc Natl Acad Sci U S A 2001 Mar 13;98(6):3393-7. Epub 2001 Mar 6 doi: 10.1073/pnas.051632298. PMID: 11248089Free PMC Article
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

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
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.
Yan M, Dilihuma J, Luo Y, Reyilanmu B, Shen Y, Mireguli M
J Clin Res Pediatr Endocrinol 2019 May 28;11(2):211-217. Epub 2018 Nov 16 doi: 10.4274/jcrpe.galenos.2018.2018.0197. PMID: 30444213Free 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
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
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
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
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
Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.
Laue LL, Wu SM, Kudo M, Bourdony CJ, Cutler GB Jr, Hsueh AJ, Chan WY
Mol Endocrinol 1996 Aug;10(8):987-97. doi: 10.1210/mend.10.8.8843415. PMID: 8843415
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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