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Premature thelarche

MedGen UID:
98416
Concept ID:
C0425772
Finding
Synonyms: Precocious breast development; Precocious thelarche; Premature breast development; Premature breast development at puberty; Premature development of the breasts; Premature Thelarche
SNOMED CT: Premature breast development at puberty (102889008); Premature development of the breasts (102889008); Precocious breast development (102889008); Precocious thelarche (102889008); Premature breast development (102889008)
 
HPO: HP:0010314

Definition

Premature development of the breasts. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Premature thelarche

Conditions with this feature

Kabuki syndrome
MedGen UID:
162897
Concept ID:
C0796004
Congenital Abnormality
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.
Precocious puberty, central, 2
MedGen UID:
815529
Concept ID:
C3809199
Disease or Syndrome
Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by Abreu et al., 2013). For discussion of genetic heterogeneity of central precocious puberty, see CPPB1 (176400).
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Faundes-Banka syndrome
MedGen UID:
1782083
Concept ID:
C5543554
Disease or Syndrome
Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021).
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
MedGen UID:
1798947
Concept ID:
C5567524
Disease or Syndrome
Individuals with TANGO2-related metabolic encephalopathy and arrhythmias can present in acute metabolic crisis (hypoglycemia, elevated lactate, mild hyperammonemia) or with developmental delay, regression, and/or seizures. The acute presentation varies from profound muscle weakness, ataxia, and/or disorientation to a comatose state. Individuals can present with intermittent acute episodes of rhabdomyolysis. The first episode of myoglobinuria has been known to occur as early as age five months. Acute renal tubular damage due to myoglobinuria can result in acute kidney injury and renal failure. During acute illness, transient electrocardiogram changes can be seen; the most common is QT prolongation. Life-threatening recurrent ventricular tachycardia or torsade de pointes occurs primarily during times of acute illness. Individuals who do not present in metabolic crises may present with gait incoordination, progressively unsteady gait, difficulty with speech, or clumsiness. Intellectual disability of variable severity is observed in almost all individuals. Seizures are observed outside the periods of crises in more than 75% of individuals. Hypothyroidism has been reported in more than one third of individuals.

Professional guidelines

PubMed

Berberoğlu M
J Clin Res Pediatr Endocrinol 2009;1(4):164-74. Epub 2009 May 2 doi: 10.4274/jcrpe.v1i4.3. PMID: 21274291Free PMC Article
Codner E, Román R
Pediatr Endocrinol Rev 2008 Mar;5(3):760-5. PMID: 18367996
Stanhope R
J Pediatr Endocrinol Metab 2000 Jul;13 Suppl 1:827-30. doi: 10.1515/jpem.2000.13.s1.827. PMID: 10969928

Recent clinical studies

Therapy

Phadte A, Sarathi V, Budyal S, Lila A, Memon SS, Karlekar M, Patil V, Shah N, Bandgar T
Indian Pediatr 2023 Jun 15;60(6):463-466. Epub 2023 Mar 20 PMID: 37211886
Ramsey JT, Li Y, Arao Y, Naidu A, Coons LA, Diaz A, Korach KS
J Clin Endocrinol Metab 2019 Nov 1;104(11):5393-5405. doi: 10.1210/jc.2018-01880. PMID: 31393563Free PMC Article
Curfman AL, Reljanovic SM, McNelis KM, Dong TT, Lewis SA, Jackson LW, Cromer BA
J Pediatr Adolesc Gynecol 2011 Dec;24(6):338-41. doi: 10.1016/j.jpag.2011.01.003. PMID: 22099730
Volta C, Bernasconi S, Cisternino M, Buzi F, Ferzetti A, Street ME, Da Milano AM
J Endocrinol Invest 1998 Mar;21(3):180-3. doi: 10.1007/BF03347298. PMID: 9591214
Quigley CA, Pescovitz OH
Curr Ther Endocrinol Metab 1997;6:7-13. PMID: 9174689

Prognosis

Sharma K, Lanzilotto A, Yakubu J, Therkelsen S, Vöegel CD, Du Toit T, Jørgensen FS, Pandey AV
Biomolecules 2024 Feb 8;14(2) doi: 10.3390/biom14020203. PMID: 38397440Free PMC Article
Taşolar SD, Siğirci A, Çiftçi N, Cengiz A, Doğan GM, Akinci A
Eur Rev Med Pharmacol Sci 2023 Oct;27(19):9226-9233. doi: 10.26355/eurrev_202310_33950. PMID: 37843336
Khokhar A, Mojica A
Pediatr Ann 2018 Jan 1;47(1):e12-e15. doi: 10.3928/19382359-20171214-01. PMID: 29323691
Curfman AL, Reljanovic SM, McNelis KM, Dong TT, Lewis SA, Jackson LW, Cromer BA
J Pediatr Adolesc Gynecol 2011 Dec;24(6):338-41. doi: 10.1016/j.jpag.2011.01.003. PMID: 22099730
Stanhope R
J Pediatr Endocrinol Metab 2000 Jul;13 Suppl 1:827-30. doi: 10.1515/jpem.2000.13.s1.827. PMID: 10969928

Clinical prediction guides

Sharma K, Lanzilotto A, Yakubu J, Therkelsen S, Vöegel CD, Du Toit T, Jørgensen FS, Pandey AV
Biomolecules 2024 Feb 8;14(2) doi: 10.3390/biom14020203. PMID: 38397440Free PMC Article
Leung AKC, Lam JM, Hon KL
Curr Pediatr Rev 2024;20(4):500-509. doi: 10.2174/1573396320666230726110658. PMID: 37496240
Taşolar SD, Siğirci A, Çiftçi N, Cengiz A, Doğan GM, Akinci A
Eur Rev Med Pharmacol Sci 2023 Oct;27(19):9226-9233. doi: 10.26355/eurrev_202310_33950. PMID: 37843336
Köksal T, Yalçin SS, Uçartürk SA
Int J Environ Health Res 2023 Mar;33(3):299-306. Epub 2022 Jan 10 doi: 10.1080/09603123.2022.2025767. PMID: 35000523
Almasi N, Zengin HY, Koç N, Uçakturk SA, İskender Mazman D, Heidarzadeh Rad N, Fisunoglu M
J Endocrinol Invest 2022 Nov;45(11):2097-2103. Epub 2022 Jun 28 doi: 10.1007/s40618-022-01841-3. PMID: 35764868

Recent systematic reviews

Jiang M, Gao Y, Qu T, Ji Y, Niu Y, Zhang J, Huang L
J Ovarian Res 2023 Nov 23;16(1):227. doi: 10.1186/s13048-023-01302-2. PMID: 37996919Free PMC Article
Nguyen NN, Huynh LBP, Do MD, Yang TY, Tsai MC, Chen YC
Front Endocrinol (Lausanne) 2021;12:735875. Epub 2021 Sep 1 doi: 10.3389/fendo.2021.735875. PMID: 34539579Free PMC Article
Hawkins J, Hires C, Dunne E, Baker C
Complement Ther Med 2020 Mar;49:102288. Epub 2019 Dec 20 doi: 10.1016/j.ctim.2019.102288. PMID: 32147050

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