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Congenital hypogonadotropic hypogonadism

MedGen UID:
859097
Concept ID:
C3899503
Disease or Syndrome
Synonyms: Congenital Hypogonadotropic Hypogonadism; congenital hypogonadotropic hypogonadism
SNOMED CT: Congenital hypogonadotropic hypogonadism (722944006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0015770
Orphanet: ORPHA174590

Definition

Insufficient production of estrogen or testosterone in the ovaries or testes due to decreased secretion of gonadotropins as a result of pituitary or hypothalamus gland dysfunction that is present at birth. [from NCI]

Professional guidelines

PubMed

Raivio T, Miettinen PJ
Best Pract Res Clin Endocrinol Metab 2019 Jun;33(3):101316. Epub 2019 Sep 5 doi: 10.1016/j.beem.2019.101316. PMID: 31522908
Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N
Endocr Rev 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. PMID: 30698671
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704

Recent clinical studies

Etiology

Jayasena CN, Devine K, Barber K, Comninos AN, Conway GS, Crown A, Davies MC, Ewart A, Seal LJ, Smyth A, Turner HE, Webber L, Anderson RA, Quinton R
Clin Endocrinol (Oxf) 2024 Nov;101(5):409-442. Epub 2024 Jun 21 doi: 10.1111/cen.15097. PMID: 39031660
Mills EG, Yang L, Nielsen MF, Kassem M, Dhillo WS, Comninos AN
Endocr Rev 2021 Nov 16;42(6):691-719. doi: 10.1210/endrev/bnab015. PMID: 33901271Free PMC Article
Thakker S, Persily J, Najari BB
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101475. Epub 2020 Dec 1 doi: 10.1016/j.beem.2020.101475. PMID: 33419659
Coelingh Bennink HJT, Egberts JFM, Mol JA, Roes KCB, van Diest PJ
J Clin Endocrinol Metab 2020 Sep 1;105(9) doi: 10.1210/clinem/dgaa404. PMID: 32594127
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
Am J Hum Genet 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. PMID: 23643382Free PMC Article

Diagnosis

Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Butler G, Purushothaman P
Minerva Pediatr 2020 Dec;72(6):484-490. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05968-X. PMID: 32748610
Raivio T, Miettinen PJ
Best Pract Res Clin Endocrinol Metab 2019 Jun;33(3):101316. Epub 2019 Sep 5 doi: 10.1016/j.beem.2019.101316. PMID: 31522908
Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N
Endocr Rev 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. PMID: 30698671
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

Therapy

Patel B, Koysombat K, Mills EG, Tsoutsouki J, Comninos AN, Abbara A, Dhillo WS
Endocr Rev 2024 Jan 4;45(1):30-68. doi: 10.1210/endrev/bnad023. PMID: 37467734Free PMC Article
Naseem H, Lokman M, Fitzgerald C
Hum Fertil (Camb) 2023 Jul;26(3):622-631. Epub 2021 Nov 9 doi: 10.1080/14647273.2021.1998929. PMID: 34753367
Swee DS, Quinton R
Expert Rev Endocrinol Metab 2022 Jan;17(1):47-61. Epub 2022 Jan 7 doi: 10.1080/17446651.2022.2023008. PMID: 34994276
Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N
Endocr Rev 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. PMID: 30698671
Ulloa-Aguirre A, Lira-Albarrán S
Prog Mol Biol Transl Sci 2016;143:121-174. Epub 2016 Sep 13 doi: 10.1016/bs.pmbts.2016.08.003. PMID: 27697201

Prognosis

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
Butler G, Purushothaman P
Minerva Pediatr 2020 Dec;72(6):484-490. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05968-X. PMID: 32748610
Dwyer AA, Raivio T, Pitteloud N
Eur J Endocrinol 2016 Jun;174(6):R267-74. Epub 2016 Jan 20 doi: 10.1530/EJE-15-1033. PMID: 26792935
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
Am J Hum Genet 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. PMID: 23643382Free PMC Article

Clinical prediction guides

Liu Y, Zhi X
Reprod Sci 2022 Jun;29(6):1697-1709. Epub 2021 Jul 6 doi: 10.1007/s43032-021-00638-8. PMID: 34231173Free PMC Article
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
Butler G, Purushothaman P
Minerva Pediatr 2020 Dec;72(6):484-490. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05968-X. PMID: 32748610
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
Am J Hum Genet 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. PMID: 23643382Free PMC Article

Recent systematic reviews

Patil VA, Lila AR, Shah N, Arya S, Sarathi V, Shah R, Jadhav SS, Memon SS, Karlekar M, Bandgar T
Clin Endocrinol (Oxf) 2022 Dec;97(6):804-813. Epub 2022 Sep 30 doi: 10.1111/cen.14822. PMID: 36138264
Patil VA, Lila AR, Shah N, Arya S, Ekbote AV, Sarathi V, Shah R, Jadhav SS, Memon SS, Bandgar T
Pituitary 2022 Jun;25(3):444-453. Epub 2022 Feb 8 doi: 10.1007/s11102-022-01209-z. PMID: 35133534
Patil VA, Lila AR, Shah N, Ekbote AV, Shah R, Bhandare VV, Sarathi V, Arya S, Memon SS, Kunwar A, Bandgar T
Neuroendocrinology 2022;112(8):723-732. Epub 2021 Dec 17 doi: 10.1159/000521558. PMID: 34923491
Gao Y, Du Q, Liu L, Liao Z
Endocrine 2021 Jun;72(3):633-643. Epub 2021 Jan 19 doi: 10.1007/s12020-020-02582-0. PMID: 33464540Free PMC Article
Gao Y, Yu B, Mao J, Wang X, Nie M, Wu X
BMC Endocr Disord 2018 Nov 19;18(1):85. doi: 10.1186/s12902-018-0313-8. PMID: 30453944Free PMC Article

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