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Pubertal Failure

MedGen UID:
821190
•Concept ID:
C3828442
•
Finding

Definition

Abnormally absent or incomplete sexual development. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPubertal Failure

Professional guidelines

PubMed

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T
J Clin Endocrinol Metab 2009 May;94(5):1723-31. Epub 2009 Mar 3 doi: 10.1210/jc.2008-2816. PMID: 19258400
Factors of importance for implantation and problems after treatment for childhood cancer.
Critchley HO
Med Pediatr Oncol 1999 Jul;33(1):9-14. doi: 10.1002/(sici)1096-911x(199907)33:1<9::aid-mpo3>3.0.co;2-k. PMID: 10401491
Growth and pubertal assessment after treatment in acute leukemia.
Loke KY, Lee BW, Quah TC, Lam SK, Tay JS
J Singapore Paediatr Soc 1992;34(1-2):49-52. PMID: 1303467

Recent clinical studies

Etiology

PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.
Welch BA, Cho HJ, Ucakturk SA, Farmer SM, Cetinkaya S, Abaci A, Akkus G, Simsek E, Kotan LD, Turan I, Gurbuz F, Yuksel B, Wray S, Topaloglu AK
J Neuroendocrinol 2022 Apr;34(4):e13103. Epub 2022 Feb 16 doi: 10.1111/jne.13103. PMID: 35170806
Transition of Care from Childhood to Adulthood: Congenital Hypogonadotropic Hypogonadism.
Dwyer AA, Pitteloud N
Endocr Dev 2018;33:82-98. Epub 2018 Jun 8 doi: 10.1159/000487527. PMID: 29886503
Childhood growth in boys with congenital hypogonadotropic hypogonadism.
Varimo T, Hero M, Laitinen EM, Miettinen PJ, Tommiska J, Känsäkoski J, Juul A, Raivio T
Pediatr Res 2016 May;79(5):705-9. Epub 2015 Dec 31 doi: 10.1038/pr.2015.278. PMID: 26720605
Mutations in FEZF1 cause Kallmann syndrome.
Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK
Am J Hum Genet 2014 Sep 4;95(3):326-31. doi: 10.1016/j.ajhg.2014.08.006. PMID: 25192046Free PMC Article
Factors of importance for implantation and problems after treatment for childhood cancer.
Critchley HO
Med Pediatr Oncol 1999 Jul;33(1):9-14. doi: 10.1002/(sici)1096-911x(199907)33:1<9::aid-mpo3>3.0.co;2-k. PMID: 10401491

Diagnosis

Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R, Crowley WF Jr
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):507-515. Epub 2017 Nov 20 doi: 10.1002/ajmg.c.31585. PMID: 29152903Free PMC Article
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.
Bouvattier C, Maione L, Bouligand J, Dodé C, Guiochon-Mantel A, Young J
Nat Rev Endocrinol 2011 Oct 18;8(3):172-82. doi: 10.1038/nrendo.2011.164. PMID: 22009162
Biochemical endocrinology of the hypogonadal male.
Belchetz PE, Barth JH, Kaufman JM
Ann Clin Biochem 2010 Nov;47(Pt 6):503-15. Epub 2010 Oct 18 doi: 10.1258/acb.2010.010150. PMID: 20956400
Delayed puberty.
Traggiai C, Stanhope R
Best Pract Res Clin Endocrinol Metab 2002 Mar;16(1):139-51. doi: 10.1053/beem.2001.0186. PMID: 11987904
Diagnosis of late puberty.
Argente J
Horm Res 1999;51 Suppl 3:95-100. doi: 10.1159/000053168. PMID: 10592450

Therapy

Pubertal induction in hypogonadism: Current approaches including use of gonadotrophins.
Zacharin M
Best Pract Res Clin Endocrinol Metab 2015 Jun;29(3):367-83. Epub 2015 Feb 26 doi: 10.1016/j.beem.2015.01.002. PMID: 26051297
Effects of neurokinin B administration on reproductive hormone secretion in healthy men and women.
Jayasena CN, Comninos AN, De Silva A, Abbara A, Veldhuis JD, Nijher GM, Ganiyu-Dada Z, Vaal M, Stamp G, Ghatei MA, Bloom SR, Dhillo WS
J Clin Endocrinol Metab 2014 Jan;99(1):E19-27. Epub 2013 Dec 20 doi: 10.1210/jc.2012-2880. PMID: 24170109Free PMC Article
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.
Bouvattier C, Maione L, Bouligand J, Dodé C, Guiochon-Mantel A, Young J
Nat Rev Endocrinol 2011 Oct 18;8(3):172-82. doi: 10.1038/nrendo.2011.164. PMID: 22009162
Factors of importance for implantation and problems after treatment for childhood cancer.
Critchley HO
Med Pediatr Oncol 1999 Jul;33(1):9-14. doi: 10.1002/(sici)1096-911x(199907)33:1<9::aid-mpo3>3.0.co;2-k. PMID: 10401491
Ovarian failure following abdominal irradiation in childhood: natural history and prognosis.
Wallace WH, Shalet SM, Crowne EC, Morris-Jones PH, Gattamaneni HR
Clin Oncol (R Coll Radiol) 1989 Nov;1(2):75-9. doi: 10.1016/s0936-6555(89)80039-1. PMID: 2486484

Prognosis

A novel homozygous nonsense NDNF variant in Kallmann syndrome.
Kotan LD, Yildiz M, Turan I, Celiloglu C, Yuksel B, Topaloglu AK
Am J Med Genet A 2023 Mar;191(3):831-834. Epub 2022 Dec 1 doi: 10.1002/ajmg.a.63066. PMID: 36454653
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H).
Gardner CJ, Robinson N, Meadows T, Wynn R, Will A, Mercer J, Church HJ, Tylee K, Wraith JE, Clayton PE
J Inherit Metab Dis 2011 Apr;34(2):489-97. Epub 2011 Jan 21 doi: 10.1007/s10545-010-9262-8. PMID: 21253827
Long-term outcomes in children with high-risk neuroblastoma treated with autologous stem cell transplantation.
Trahair TN, Vowels MR, Johnston K, Cohn RJ, Russell SJ, Neville KA, Carroll S, Marshall GM
Bone Marrow Transplant 2007 Oct;40(8):741-6. Epub 2007 Aug 27 doi: 10.1038/sj.bmt.1705809. PMID: 17724446
Factors of importance for implantation and problems after treatment for childhood cancer.
Critchley HO
Med Pediatr Oncol 1999 Jul;33(1):9-14. doi: 10.1002/(sici)1096-911x(199907)33:1<9::aid-mpo3>3.0.co;2-k. PMID: 10401491
Ovarian failure following abdominal irradiation in childhood: natural history and prognosis.
Wallace WH, Shalet SM, Crowne EC, Morris-Jones PH, Gattamaneni HR
Clin Oncol (R Coll Radiol) 1989 Nov;1(2):75-9. doi: 10.1016/s0936-6555(89)80039-1. PMID: 2486484

Clinical prediction guides

A novel homozygous nonsense NDNF variant in Kallmann syndrome.
Kotan LD, Yildiz M, Turan I, Celiloglu C, Yuksel B, Topaloglu AK
Am J Med Genet A 2023 Mar;191(3):831-834. Epub 2022 Dec 1 doi: 10.1002/ajmg.a.63066. PMID: 36454653
Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R, Crowley WF Jr
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):507-515. Epub 2017 Nov 20 doi: 10.1002/ajmg.c.31585. PMID: 29152903Free PMC Article
Childhood growth in boys with congenital hypogonadotropic hypogonadism.
Varimo T, Hero M, Laitinen EM, Miettinen PJ, Tommiska J, Känsäkoski J, Juul A, Raivio T
Pediatr Res 2016 May;79(5):705-9. Epub 2015 Dec 31 doi: 10.1038/pr.2015.278. PMID: 26720605
New concepts on the control of the onset of puberty.
Ojeda SR, Lomniczi A, Sandau U, Matagne V
Endocr Dev 2010;17:44-51. Epub 2009 Nov 24 doi: 10.1159/000262527. PMID: 19955755
Factors of importance for implantation and problems after treatment for childhood cancer.
Critchley HO
Med Pediatr Oncol 1999 Jul;33(1):9-14. doi: 10.1002/(sici)1096-911x(199907)33:1<9::aid-mpo3>3.0.co;2-k. PMID: 10401491

Supplemental Content

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