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Delayed menarche

MedGen UID:
184929
Concept ID:
C0949173
Disease or Syndrome
Synonym: Delayed start of first period
SNOMED CT: Delayed menarche (455761000124103)
 
HPO: HP:0012569

Definition

First period after the age of 15 years. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed menarche

Conditions with this feature

Laron-type isolated somatotropin defect
MedGen UID:
78776
Concept ID:
C0271568
Disease or Syndrome
Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor. A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by a postreceptor defect, i.e., mutation in the STAT5B gene (604260). Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271).
Peroxisome biogenesis disorder 6B
MedGen UID:
766862
Concept ID:
C3553948
Disease or Syndrome
The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100.
LEOPARD syndrome 1
MedGen UID:
1631694
Concept ID:
C4551484
Disease or Syndrome
Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.

Professional guidelines

PubMed

Koltun KJ, Williams NI, De Souza MJ
Appl Physiol Nutr Metab 2020 Dec;45(12):1324-1331. Epub 2020 Jun 5 doi: 10.1139/apnm-2020-0131. PMID: 32502379
Farkas H, Harmat G, Füst G, Varga L, Visy B
Pediatr Allergy Immunol 2002 Jun;13(3):153-61. doi: 10.1034/j.1399-3038.2002.01014.x. PMID: 12144636
Highet R
Sports Med 1989 Feb;7(2):82-108. doi: 10.2165/00007256-198907020-00002. PMID: 2646673

Recent clinical studies

Etiology

Tsukahara Y, Namba A, Kamada H, Torii S, Tabata S, Yamasawa F, Sato K
Am J Hum Biol 2022 Feb;34(2):e23622. Epub 2021 May 28 doi: 10.1002/ajhb.23622. PMID: 34048626
Kim HS, Ng DK, Matheson MB, Atkinson MA, Warady BA, Furth SL, Ruebner RL
Pediatr Nephrol 2020 Aug;35(8):1471-1475. Epub 2020 Apr 27 doi: 10.1007/s00467-020-04559-7. PMID: 32337637Free PMC Article
Grover SR
Best Pract Res Clin Endocrinol Metab 2019 Jun;33(3):101286. Epub 2019 Jun 14 doi: 10.1016/j.beem.2019.06.002. PMID: 31278062
Naleway AL, Mittendorf KF, Irving SA, Henninger ML, Crane B, Smith N, Daley MF, Gee J
Pediatrics 2018 Sep;142(3) Epub 2018 Aug 21 doi: 10.1542/peds.2018-0943. PMID: 30131438Free PMC Article
Schweiger BM, Snell-Bergeon JK, Roman R, McFann K, Klingensmith GJ
Reprod Biol Endocrinol 2011 May 6;9:61. doi: 10.1186/1477-7827-9-61. PMID: 21548955Free PMC Article

Diagnosis

Mohanraj S, Prasad HK
Indian J Pediatr 2023 Jun;90(6):590-597. Epub 2023 May 2 doi: 10.1007/s12098-023-04577-x. PMID: 37127825
Ackerman KE, Misra M
Lancet Child Adolesc Health 2018 Sep;2(9):677-688. Epub 2018 Jul 6 doi: 10.1016/S2352-4642(18)30145-7. PMID: 30119761
Muñoz-Calvo MT, Argente J
Endocr Dev 2016;29:153-73. Epub 2015 Dec 17 doi: 10.1159/000438884. PMID: 26680577
Roupas ND, Georgopoulos NA
Hormones (Athens) 2011 Apr-Jun;10(2):104-16. doi: 10.14310/horm.2002.1300. PMID: 21724535
Gottlieb B, Pinsky L, Beitel LK, Trifiro M
Am J Med Genet 1999 Dec 29;89(4):210-7. doi: 10.1002/(sici)1096-8628(19991229)89:4<210::aid-ajmg5>3.0.co;2-p. PMID: 10727996

Therapy

Naleway AL, Mittendorf KF, Irving SA, Henninger ML, Crane B, Smith N, Daley MF, Gee J
Pediatrics 2018 Sep;142(3) Epub 2018 Aug 21 doi: 10.1542/peds.2018-0943. PMID: 30131438Free PMC Article
Stimpson SJ, Rebele EC, DeBaun MR
Expert Rev Hematol 2016;9(2):187-96. Epub 2015 Dec 29 doi: 10.1586/17474086.2016.1126177. PMID: 26613137
Amigo H, Vásquez S, Bustos P, Ortiz G, Lara M
Cad Saude Publica 2012 May;28(5):977-83. doi: 10.1590/s0102-311x2012000500016. PMID: 22641520
Highet R
Sports Med 1989 Feb;7(2):82-108. doi: 10.2165/00007256-198907020-00002. PMID: 2646673
Reed JD, Redding-Lallinger R, Orringer EP
Am J Hematol 1987 Apr;24(4):441-55. doi: 10.1002/ajh.2830240416. PMID: 3551592

Prognosis

Mohanraj S, Prasad HK
Indian J Pediatr 2023 Jun;90(6):590-597. Epub 2023 May 2 doi: 10.1007/s12098-023-04577-x. PMID: 37127825
Naleway AL, Mittendorf KF, Irving SA, Henninger ML, Crane B, Smith N, Daley MF, Gee J
Pediatrics 2018 Sep;142(3) Epub 2018 Aug 21 doi: 10.1542/peds.2018-0943. PMID: 30131438Free PMC Article
Virdis R, Street ME, Bandello MA, Tripodi C, Donadio A, Villani AR, Cagozzi L, Garavelli L, Bernasconi S
J Pediatr Endocrinol Metab 2003 Mar;16 Suppl 2:289-92. PMID: 12729406
Highet R
Sports Med 1989 Feb;7(2):82-108. doi: 10.2165/00007256-198907020-00002. PMID: 2646673
Reed JD, Redding-Lallinger R, Orringer EP
Am J Hematol 1987 Apr;24(4):441-55. doi: 10.1002/ajh.2830240416. PMID: 3551592

Clinical prediction guides

Kim HS, Ng DK, Matheson MB, Atkinson MA, Warady BA, Furth SL, Ruebner RL
Pediatr Nephrol 2020 Aug;35(8):1471-1475. Epub 2020 Apr 27 doi: 10.1007/s00467-020-04559-7. PMID: 32337637Free PMC Article
Kim D, Sohn K
Am J Hum Biol 2018 Nov;30(6):e23189. Epub 2018 Oct 17 doi: 10.1002/ajhb.23189. PMID: 30329184
Muñoz-Calvo MT, Argente J
Endocr Dev 2016;29:153-73. Epub 2015 Dec 17 doi: 10.1159/000438884. PMID: 26680577
Schweiger BM, Snell-Bergeon JK, Roman R, McFann K, Klingensmith GJ
Reprod Biol Endocrinol 2011 May 6;9:61. doi: 10.1186/1477-7827-9-61. PMID: 21548955Free PMC Article
Highet R
Sports Med 1989 Feb;7(2):82-108. doi: 10.2165/00007256-198907020-00002. PMID: 2646673

Recent systematic reviews

Hobbs AK, Cheng HL, Tee EYF, Steinbeck KS
J Pediatr Adolesc Gynecol 2023 Aug;36(4):338-348. Epub 2023 May 14 doi: 10.1016/j.jpag.2023.05.005. PMID: 37192680
Beyzaei Z, Bagheri Z, Karimzadeh S, Geramizadeh B
Clin Transplant 2023 Mar;37(3):e14867. Epub 2022 Dec 7 doi: 10.1111/ctr.14867. PMID: 36433721

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