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Isolated Hypogonadotropic Hypogonadism

MedGen UID:
483350
•Concept ID:
C3489396
•
Disease or Syndrome
Synonym: Hypogonadism, Isolated Hypogonadotropic
 
OMIM®: 146110

Definition

Hypogonadotropic hypogonadism not associated with a deficiency of other pituitary hormones. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated Hypogonadotropic Hypogonadism

Professional guidelines

PubMed

Isolated Hypogonadotropic Hypogonadism: New Insights into Relationships Between Genotype and Reproductive Phenotype.
Giovanelli L, Quinton R
J Clin Endocrinol Metab 2023 Mar 10;108(4):e50-e51. doi: 10.1210/clinem/dgac727. PMID: 36520986
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R
J Clin Endocrinol Metab 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. PMID: 36268624Free PMC Article
Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.
Nair S, Jadhav S, Lila A, Jagtap V, Bukan A, Pandit R, Ekbote A, Dharmalingam M, Kumar P, Kalra P, Gandhi P, Walia R, Sankhe S, Raghavan V, Shivane V, Menon P, Bandgar T, Shah N
Clin Endocrinol (Oxf) 2016 Jul;85(1):100-9. Epub 2016 Feb 12 doi: 10.1111/cen.13009. PMID: 26708526

Recent clinical studies

Etiology

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X, Chen D, Zhao Y, Men M, Chen Z, Jiang F, Zheng R, Stamou MI, Plummer L, Balasubramanian R, Li JD
Hum Mol Genet 2023 May 5;32(10):1722-1729. doi: 10.1093/hmg/ddad014. PMID: 36694982Free PMC Article
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R
J Clin Endocrinol Metab 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. PMID: 36268624Free PMC Article
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.
Cho CY, Tsai WY, Lee CT, Liu SY, Huang SY, Chien YH, Hwu WL, Lee NC, Tung YC
J Formos Med Assoc 2022 Jan;121(1 Pt 1):218-226. Epub 2021 Mar 26 doi: 10.1016/j.jfma.2021.03.010. PMID: 33775534
Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism.
Zhou C, Niu Y, Xu H, Li Z, Wang T, Yang W, Wang S, Wang DW, Liu J
Fertil Steril 2018 Aug;110(3):486-495.e5. doi: 10.1016/j.fertnstert.2018.04.010. PMID: 30098700
Pathology or normal variant: what constitutes a delay in puberty?
Villanueva C, Argente J
Horm Res Paediatr 2014;82(4):213-21. Epub 2014 Jul 7 doi: 10.1159/000362600. PMID: 25011467

Diagnosis

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X, Chen D, Zhao Y, Men M, Chen Z, Jiang F, Zheng R, Stamou MI, Plummer L, Balasubramanian R, Li JD
Hum Mol Genet 2023 May 5;32(10):1722-1729. doi: 10.1093/hmg/ddad014. PMID: 36694982Free PMC Article
Nutritional and Pubertal Disorders.
Muñoz-Calvo MT, Argente J
Endocr Dev 2016;29:153-73. Epub 2015 Dec 17 doi: 10.1159/000438884. PMID: 26680577
Diagnosis and evaluation of hypogonadism.
McCabe MJ, Bancalari RE, Dattani MT
Pediatr Endocrinol Rev 2014 Feb;11 Suppl 2:214-29. PMID: 24683946
Hypogonadotropic hypogonadism revisited.
Fraietta R, Zylberstejn DS, Esteves SC
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):81-8. doi: 10.6061/clinics/2013(sup01)09. PMID: 23503957Free PMC Article
Delayed puberty.
Fenichel P
Endocr Dev 2012;22:138-159. Epub 2012 Jul 25 doi: 10.1159/000326686. PMID: 22846526

Therapy

ART outcomes of patients in women with Isolated Hypogonadotropic Hypogonadism: a retrospective study in China.
Xu W, Li R, Qiao J
BMC Pregnancy Childbirth 2023 Apr 14;23(1):255. doi: 10.1186/s12884-023-05579-5. PMID: 37059970Free PMC Article
Single-Centre Experience of Testosterone Therapy for Boys with Hypogonadism.
Lucas-Herald AK, Mason E, Beaumont P, Mason A, Shaikh MG, Wong SC, Ahmed SF
Horm Res Paediatr 2018;90(2):123-127. Epub 2018 Jul 18 doi: 10.1159/000490738. PMID: 30021202
Congenital hypogonadotropic hypogonadism and Kallmann syndrome as models for studying hormonal regulation of human testicular endocrine functions.
Trabado S, Lamothe S, Maione L, Bouvattier C, Sarfati J, Brailly-Tabard S, Young J
Ann Endocrinol (Paris) 2014 May;75(2):79-87. Epub 2014 May 9 doi: 10.1016/j.ando.2014.04.011. PMID: 24815726
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.
Vizeneux A, Hilfiger A, Bouligand J, Pouillot M, Brailly-Tabard S, Bashamboo A, McElreavey K, Brauner R
PLoS One 2013;8(10):e77827. Epub 2013 Oct 24 doi: 10.1371/journal.pone.0077827. PMID: 24204987Free PMC Article
Role of kisspeptin/GPR54 system in human reproductive axis.
Silveira LFG, Teles MG, Trarbach EB, Latronico AC
Front Horm Res 2010;39:13-24. Epub 2010 Apr 8 doi: 10.1159/000312689. PMID: 20389082

Prognosis

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X, Chen D, Zhao Y, Men M, Chen Z, Jiang F, Zheng R, Stamou MI, Plummer L, Balasubramanian R, Li JD
Hum Mol Genet 2023 May 5;32(10):1722-1729. doi: 10.1093/hmg/ddad014. PMID: 36694982Free PMC Article
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R
J Clin Endocrinol Metab 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. PMID: 36268624Free PMC Article
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
Stamou MI, Brand H, Wang M, Wong I, Lippincott MF, Plummer L, Crowley WF, Talkowski M, Seminara S, Balasubramanian R
J Clin Endocrinol Metab 2022 Jul 14;107(8):2228-2242. doi: 10.1210/clinem/dgac300. PMID: 35574646Free PMC Article
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.
Cangiano B, Swee DS, Quinton R, Bonomi M
Hum Genet 2021 Jan;140(1):77-111. Epub 2020 Mar 21 doi: 10.1007/s00439-020-02147-1. PMID: 32200437
Delayed puberty.
Fenichel P
Endocr Dev 2012;22:138-159. Epub 2012 Jul 25 doi: 10.1159/000326686. PMID: 22846526

Clinical prediction guides

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X, Chen D, Zhao Y, Men M, Chen Z, Jiang F, Zheng R, Stamou MI, Plummer L, Balasubramanian R, Li JD
Hum Mol Genet 2023 May 5;32(10):1722-1729. doi: 10.1093/hmg/ddad014. PMID: 36694982Free PMC Article
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
Stamou MI, Brand H, Wang M, Wong I, Lippincott MF, Plummer L, Crowley WF, Talkowski M, Seminara S, Balasubramanian R
J Clin Endocrinol Metab 2022 Jul 14;107(8):2228-2242. doi: 10.1210/clinem/dgac300. PMID: 35574646Free PMC Article
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.
Cangiano B, Swee DS, Quinton R, Bonomi M
Hum Genet 2021 Jan;140(1):77-111. Epub 2020 Mar 21 doi: 10.1007/s00439-020-02147-1. PMID: 32200437
Similarity of female central (hypogonadotropic) hypogonadism and postmenopause.
Ilovayskaya I, Zektser V, Lazebnik L
Climacteric 2017 Aug;20(4):356-361. Epub 2017 Apr 24 doi: 10.1080/13697137.2017.1315086. PMID: 28438051
Nutritional and Pubertal Disorders.
Muñoz-Calvo MT, Argente J
Endocr Dev 2016;29:153-73. Epub 2015 Dec 17 doi: 10.1159/000438884. PMID: 26680577

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