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Early onset of sexual maturation

MedGen UID:
868001
Concept ID:
C4022392
Finding
HPO: HP:0100000

Definition

An early onset of puberty, in this case early does not refer to precocious. [from HPO]

Conditions with this feature

Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.

Professional guidelines

PubMed

de Andre Cardoso-Demartini A, Malaquias AC, da Silva Boguszewski MC
Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):105-112. doi: 10.17458/per.vol16.2018.dmb.ghshortchilbornsmall. PMID: 30378788
Klein DA, Emerick JE, Sylvester JE, Vogt KS
Am Fam Physician 2017 Nov 1;96(9):590-599. PMID: 29094880
Shelbourne KD, Patel DV, McCarroll JR
Knee Surg Sports Traumatol Arthrosc 1996;4(2):68-74. doi: 10.1007/BF01477256. PMID: 8884725

Recent clinical studies

Etiology

Liang X, Huang K, Dong G, Chen R, Chen S, Zheng R, Wang C, Wei H, Cao B, Liang Y, Yao H, Su Z, Maimaiti M, Luo F, Li P, Zhu M, Du H, Yang Y, Cui L, Si S, Bai G, Yu Y, Wang EG, Hofman PL, Fu J
J Clin Endocrinol Metab 2023 Aug 18;108(9):2282-2289. doi: 10.1210/clinem/dgad102. PMID: 36881937
Butler G, Srirangalingam U, Faithfull J, Sangster P, Senniappan S, Mitchell R
Arch Dis Child 2023 Mar;108(3):166-171. Epub 2022 Aug 10 doi: 10.1136/archdischild-2020-320831. PMID: 35948402Free PMC Article
Mindang ELN, Awounfack CF, Ndinteh DT, Krause RWM, Njamen D
Int J Environ Res Public Health 2022 Aug 21;19(16) doi: 10.3390/ijerph191610410. PMID: 36012044Free PMC Article
Stancampiano MR, Lucas-Herald AK, Russo G, Rogol AD, Ahmed SF
Horm Res Paediatr 2019;92(4):215-228. Epub 2019 Dec 18 doi: 10.1159/000504670. PMID: 31851967
Castellano JM, Tena-Sempere M
Endocr Dev 2016;29:87-121. Epub 2015 Dec 17 doi: 10.1159/000438877. PMID: 26680574

Diagnosis

Butler G, Srirangalingam U, Faithfull J, Sangster P, Senniappan S, Mitchell R
Arch Dis Child 2023 Mar;108(3):166-171. Epub 2022 Aug 10 doi: 10.1136/archdischild-2020-320831. PMID: 35948402Free PMC Article
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Klein DA, Emerick JE, Sylvester JE, Vogt KS
Am Fam Physician 2017 Nov 1;96(9):590-599. PMID: 29094880
Pinyerd B, Zipf WB
J Pediatr Nurs 2005 Apr;20(2):75-82. doi: 10.1016/j.pedn.2004.12.011. PMID: 15815567
Shankar RR, Pescovitz OH
Adv Endocrinol Metab 1995;6:55-89. PMID: 7671102

Therapy

Liang X, Huang K, Dong G, Chen R, Chen S, Zheng R, Wang C, Wei H, Cao B, Liang Y, Yao H, Su Z, Maimaiti M, Luo F, Li P, Zhu M, Du H, Yang Y, Cui L, Si S, Bai G, Yu Y, Wang EG, Hofman PL, Fu J
J Clin Endocrinol Metab 2023 Aug 18;108(9):2282-2289. doi: 10.1210/clinem/dgad102. PMID: 36881937
Butler G, Srirangalingam U, Faithfull J, Sangster P, Senniappan S, Mitchell R
Arch Dis Child 2023 Mar;108(3):166-171. Epub 2022 Aug 10 doi: 10.1136/archdischild-2020-320831. PMID: 35948402Free PMC Article
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Villamor E, Jansen EC
Annu Rev Public Health 2016;37:33-46. Epub 2016 Jan 18 doi: 10.1146/annurev-publhealth-031914-122606. PMID: 26789387
Shankar RR, Pescovitz OH
Adv Endocrinol Metab 1995;6:55-89. PMID: 7671102

Prognosis

Mindang ELN, Awounfack CF, Ndinteh DT, Krause RWM, Njamen D
Int J Environ Res Public Health 2022 Aug 21;19(16) doi: 10.3390/ijerph191610410. PMID: 36012044Free PMC Article
Cumberland AL, Hirst JJ, Badoer E, Wudy SA, Greaves RF, Zacharin M, Walker DW
Int J Mol Sci 2021 Apr 21;22(9) doi: 10.3390/ijms22094296. PMID: 33919014Free PMC Article
Chaku N, Hoyt LT
J Youth Adolesc 2019 Jul;48(7):1365-1378. Epub 2019 Apr 15 doi: 10.1007/s10964-019-01021-2. PMID: 30989473
Marceau K, Kirisci L, Tarter RE
Child Dev 2019 Nov;90(6):e763-e782. Epub 2018 May 31 doi: 10.1111/cdev.13101. PMID: 29851020Free PMC Article
Shankar RR, Pescovitz OH
Adv Endocrinol Metab 1995;6:55-89. PMID: 7671102

Clinical prediction guides

Mindang ELN, Awounfack CF, Ndinteh DT, Krause RWM, Njamen D
Int J Environ Res Public Health 2022 Aug 21;19(16) doi: 10.3390/ijerph191610410. PMID: 36012044Free PMC Article
Cumberland AL, Hirst JJ, Badoer E, Wudy SA, Greaves RF, Zacharin M, Walker DW
Int J Mol Sci 2021 Apr 21;22(9) doi: 10.3390/ijms22094296. PMID: 33919014Free PMC Article
Villamor E, Jansen EC
Annu Rev Public Health 2016;37:33-46. Epub 2016 Jan 18 doi: 10.1146/annurev-publhealth-031914-122606. PMID: 26789387
Kaplowitz P, Bloch C; Section on Endocrinology, American Academy of Pediatrics
Pediatrics 2016 Jan;137(1) Epub 2015 Dec 14 doi: 10.1542/peds.2015-3732. PMID: 26668298
Shankar RR, Pescovitz OH
Adv Endocrinol Metab 1995;6:55-89. PMID: 7671102

Recent systematic reviews

Taylor KW, Howdeshell KL, Bommarito PA, Sibrizzi CA, Blain RB, Magnuson K, Lemeris C, Tracy W, Baird DD, Jackson CL, Gaston SA, Rider CV, Walker VR, Rooney AA
Environ Int 2023 Nov;181:108307. Epub 2023 Nov 4 doi: 10.1016/j.envint.2023.108307. PMID: 37948866
Castiello F, Freire C
Eur J Endocrinol 2021 May 4;184(6):733-749. doi: 10.1530/EJE-20-1038. PMID: 33769962
Nguyen NTK, Fan HY, Tsai MC, Tung TH, Huynh QTV, Huang SY, Chen YC
Nutrients 2020 Aug 22;12(9) doi: 10.3390/nu12092544. PMID: 32842616Free PMC Article
Li W, Liu Q, Deng X, Chen Y, Liu S, Story M
Int J Environ Res Public Health 2017 Oct 24;14(10) doi: 10.3390/ijerph14101266. PMID: 29064384Free PMC Article
Prentice P, Viner RM
Int J Obes (Lond) 2013 Aug;37(8):1036-43. Epub 2012 Nov 20 doi: 10.1038/ijo.2012.177. PMID: 23164700

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