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Pubertal developmental failure in females

MedGen UID:
870212
•Concept ID:
C4024649
•
Anatomical Abnormality
HPO: HP:0008647

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Pubertal developmental failure in females

Professional guidelines

PubMed

Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome.
Boncompagni A, McNeilly J, Murtaza M, Lucaccioni L, Iughetti L, Wong SC, Mason A
J Pediatr Endocrinol Metab 2020 Nov 26;33(11):1373-1381. doi: 10.1515/jpem-2020-0170. PMID: 33095753
Treatment of late puberty.
Brook CG
Horm Res 1999;51 Suppl 3:101-3. doi: 10.1159/000053169. PMID: 10592451
Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot.
de Brito VN, Latronico AC, Arnhold IJ, Lo LS, Domenice S, Albano MC, Fragoso MC, Mendonca BB
Arch Dis Child 1999 Mar;80(3):231-4. doi: 10.1136/adc.80.3.231. PMID: 10325702Free PMC Article

Recent clinical studies

Etiology

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.
Kallali W, Messiaen C, Saïdi R, Lessim S, Viaud M, Dulon J, Nedelcu M, Samara D, Houang M, Donadille B, Courtillot C, de Filippo G, Carel JC, Christin-Maitre S, Touraine P, Netchine I, Polak M, Léger J
Orphanet J Rare Dis 2021 Nov 4;16(1):469. doi: 10.1186/s13023-021-02099-3. PMID: 34736502Free PMC Article
Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome.
Boncompagni A, McNeilly J, Murtaza M, Lucaccioni L, Iughetti L, Wong SC, Mason A
J Pediatr Endocrinol Metab 2020 Nov 26;33(11):1373-1381. doi: 10.1515/jpem-2020-0170. PMID: 33095753
Association of phthalates, parabens and phenols found in personal care products with pubertal timing in girls and boys.
Harley KG, Berger KP, Kogut K, Parra K, Lustig RH, Greenspan LC, Calafat AM, Ye X, Eskenazi B
Hum Reprod 2019 Jan 1;34(1):109-117. doi: 10.1093/humrep/dey337. PMID: 30517665Free PMC Article
Factors affecting onset of puberty.
Delemarre-van de Waal HA, van Coeverden SC, Engelbregt MT
Horm Res 2002;57 Suppl 2:15-8. doi: 10.1159/000058095. PMID: 12065921
Gynecologic care of medically complicated adolescents.
Owens K, Honebrink A
Pediatr Clin North Am 1999 Jun;46(3):631-42, ix. doi: 10.1016/s0031-3955(05)70141-3. PMID: 10384811

Diagnosis

Androgenization in Klinefelter syndrome: Clinical spectrum from infancy through young adulthood.
Nassau DE, Best JC, Cohen J, Gonzalez DC, Alam A, Ramasamy R
J Pediatr Urol 2021 Jun;17(3):346-352. Epub 2021 Feb 24 doi: 10.1016/j.jpurol.2021.02.021. PMID: 33726973
Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome.
Boncompagni A, McNeilly J, Murtaza M, Lucaccioni L, Iughetti L, Wong SC, Mason A
J Pediatr Endocrinol Metab 2020 Nov 26;33(11):1373-1381. doi: 10.1515/jpem-2020-0170. PMID: 33095753
Noonan syndrome.
Bhambhani V, Muenke M
Am Fam Physician 2014 Jan 1;89(1):37-43. PMID: 24444506Free PMC Article
Precocious puberty in Turner Syndrome: report of a case and review of the literature.
Improda N, Rezzuto M, Alfano S, Parenti G, Vajro P, Pignata C, Salerno M
Ital J Pediatr 2012 Oct 17;38:54. doi: 10.1186/1824-7288-38-54. PMID: 23075274Free PMC Article
Turner syndrome 2008.
Bondy CA
Horm Res 2009 Jan;71 Suppl 1:52-6. Epub 2009 Jan 21 doi: 10.1159/000178039. PMID: 19153507

Therapy

Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.
Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T
Endocr J 2021 Jan 28;68(1):111-117. Epub 2020 Sep 3 doi: 10.1507/endocrj.EJ20-0291. PMID: 32879144
Association of phthalates, parabens and phenols found in personal care products with pubertal timing in girls and boys.
Harley KG, Berger KP, Kogut K, Parra K, Lustig RH, Greenspan LC, Calafat AM, Ye X, Eskenazi B
Hum Reprod 2019 Jan 1;34(1):109-117. doi: 10.1093/humrep/dey337. PMID: 30517665Free PMC Article
Disease Status and Pubertal Stage Predict Improved Growth in Antitumor Necrosis Factor Therapy for Pediatric Inflammatory Bowel Disease.
Cameron FL, Altowati MA, Rogers P, McGrogan P, Anderson N, Bisset WM, Ahmed SF, Wilson DC, Russell RK
J Pediatr Gastroenterol Nutr 2017 Jan;64(1):47-55. doi: 10.1097/MPG.0000000000001379. PMID: 27657882
Treatment of late puberty.
Brook CG
Horm Res 1999;51 Suppl 3:101-3. doi: 10.1159/000053169. PMID: 10592451
Multiple hormone deficiencies in children with hemochromatosis.
Oerter KE, Kamp GA, Munson PJ, Nienhuis AW, Cassorla FG, Manasco PK
J Clin Endocrinol Metab 1993 Feb;76(2):357-61. doi: 10.1210/jcem.76.2.8432779. PMID: 8432779

Prognosis

Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome.
Boncompagni A, McNeilly J, Murtaza M, Lucaccioni L, Iughetti L, Wong SC, Mason A
J Pediatr Endocrinol Metab 2020 Nov 26;33(11):1373-1381. doi: 10.1515/jpem-2020-0170. PMID: 33095753
Disease Status and Pubertal Stage Predict Improved Growth in Antitumor Necrosis Factor Therapy for Pediatric Inflammatory Bowel Disease.
Cameron FL, Altowati MA, Rogers P, McGrogan P, Anderson N, Bisset WM, Ahmed SF, Wilson DC, Russell RK
J Pediatr Gastroenterol Nutr 2017 Jan;64(1):47-55. doi: 10.1097/MPG.0000000000001379. PMID: 27657882
Turner syndrome 2008.
Bondy CA
Horm Res 2009 Jan;71 Suppl 1:52-6. Epub 2009 Jan 21 doi: 10.1159/000178039. PMID: 19153507
Fertility issues in survivors from adolescent cancers.
Pacey AA
Cancer Treat Rev 2007 Nov;33(7):646-55. Epub 2007 May 11 doi: 10.1016/j.ctrv.2007.02.001. PMID: 17499440
Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot.
de Brito VN, Latronico AC, Arnhold IJ, Lo LS, Domenice S, Albano MC, Fragoso MC, Mendonca BB
Arch Dis Child 1999 Mar;80(3):231-4. doi: 10.1136/adc.80.3.231. PMID: 10325702Free PMC Article

Clinical prediction guides

Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.
Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U
PLoS One 2017;12(3):e0173144. Epub 2017 Mar 9 doi: 10.1371/journal.pone.0173144. PMID: 28278160Free PMC Article
Disease Status and Pubertal Stage Predict Improved Growth in Antitumor Necrosis Factor Therapy for Pediatric Inflammatory Bowel Disease.
Cameron FL, Altowati MA, Rogers P, McGrogan P, Anderson N, Bisset WM, Ahmed SF, Wilson DC, Russell RK
J Pediatr Gastroenterol Nutr 2017 Jan;64(1):47-55. doi: 10.1097/MPG.0000000000001379. PMID: 27657882
The essential roles of TGFB1 in reproduction.
Ingman WV, Robertson SA
Cytokine Growth Factor Rev 2009 Jun;20(3):233-9. Epub 2009 Jun 3 doi: 10.1016/j.cytogfr.2009.05.003. PMID: 19497778
Factors affecting onset of puberty.
Delemarre-van de Waal HA, van Coeverden SC, Engelbregt MT
Horm Res 2002;57 Suppl 2:15-8. doi: 10.1159/000058095. PMID: 12065921
Aberrant puberty.
Foster MB
Obstet Gynecol Clin North Am 1992 Mar;19(1):59-70. PMID: 1584545

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