Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
BMC Pediatrics
Published in: BMC Pediatrics 1/2016

Open Access 01-12-2016 | Research article

Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases

Authors: Sarah Winter, Aldjia Ousidhoum, Kenneth McElreavey, Raja Brauner

Published in: BMC Pediatrics | Issue 1/2016

Login to get access

Abstract

Background

The mechanism that initiates the onset of puberty is largely unknown but the age of onset is mainly under genetic control and influenced by environmental factors including nutrition. Familial forms of constitutional delay of puberty (CDP) suggest the involvement of genetic factors. The purpose of this study is to describe the presentation and the mode of inheritance of CDP in a series of familial cases.

Methods

A retrospective, single center study was carried out over 10 years on 48 probands (14 girls and 34 boys) from 48 families seen for CDP with a familial component.

Results

Of the 48 probands, 46 (96 %) had at least one affected 1st degree relatives and 2 (4 %, 2 boys) had only 2nd degree relatives affected.
In girls, 11 families (79 %) exhibited exclusive maternal inheritance, 1 (7 %) paternal inheritance and 2 (14 %) both maternal and paternal inheritance. In boys, 14 families (41 %) exhibited exclusive maternal inheritance, 12 (35 %) paternal inheritance and 8 (24 %) both maternal and paternal inheritance.
In the boys with bilineal inheritance, the ages at onset of puberty (16 ± 1.41 years) and at evaluation (16.05 ± 2.47 years) were higher than in those with unilineal inheritance (15.25 ± 0.35 and 15.1 ± 0.42 years respectively), but the difference was not significant.

Conclusions

In girls exclusive maternal inheritance seems to be the major mode of inheritance whereas for boys the mode of inheritance was almost equally maternal, paternal or bilineal. Clinical phenotype of boys with bilineal inheritance seems to be more severe, but the difference did not reach statistical significance, perhaps because of the small sample size. This greater severity of the phenotype in boys with bilineal inheritance is likely due to inheriting different puberty timing genes from each parent. Future research should be directed at identifying such genes.
Literature
1.
2.
Chemaitilly W, Trivin C, Adan L, Gall V, Sainte-Rose C, Brauner R. Central precocious puberty: clinical and laboratory features. Clin Endocrinol (Oxf). 2001;54:289–94.CrossRef
3.
Parent A-S, Teilmann G, Juul A, Skakkebaek NE, Toppari J, Bourguignon J-P. The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration. Endocr Rev. 2003;24:668–93.CrossRefPubMed
4.
Kaprio J, Rimpelä A, Winter T, Viken RJ, Rimpelä M, Rose RJ. Common genetic influences on BMI and age at menarche. Hum Biol. 1995;67:739–53.PubMed
5.
Sedlmeyer IL, Palmert MR. Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab. 2002;87:1613–20.CrossRefPubMed
6.
Giabicani E, Allali S, Durand A, Sommet J, Couto-Silva A-C, Brauner R. Presentation of 493 consecutive girls with idiopathic central precocious puberty: a single-center study. PloS One. 2013;8:e70931.CrossRefPubMedPubMedCentral
7.
Wehkalampi K, Widén E, Laine T, Palotie A, Dunkel L. Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care. J Clin Endocrinol Metab. 2008;93:723–8.CrossRefPubMed
8.
Sedlmeyer IL, Hirschhorn JN, Palmert MR. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab. 2002;87:5581–6.CrossRefPubMed
9.
Sperlich M, Butenandt O, Schwarz HP. Final height and predicted height in boys with untreated constitutional growth delay. Eur J Pediatr. 1995;154:627–32.CrossRefPubMed
10.
Han JC, Balagopal P, Sweeten S, Darmaun D, Mauras N. Evidence for hypermetabolism in boys with constitutional delay of growth and maturation. J Clin Endocrinol Metab. 2006;91:2081–6.CrossRefPubMed
11.
Burr IM, Sizonenko PC, Kaplan SL, Grumbach MM. Hormonal changes in puberty. I. Correlation of serum luteinizing hormone and follicle stimulating hormone with stages of puberty, testicular size, and bone age in normal boys. Pediatr Res. 1970;4:25–35.CrossRefPubMed
12.
13.
14.
Sempé M, Pedron G, Roy-Pernot MP. Auxologie, Méthodes et Séquences. Paris, France: Theraplix; 1979.
15.
Rolland-Cachera MF, Cole TJ, Sempé M, Tichet J, Rossignol C, Charraud A. Body Mass Index variations: centiles from birth to 87 years. Eur J Clin Nutr. 1991;45:13–21.PubMed
16.
Greulich, WW., Pyle, SI.: Radiographic Atlas of Skeletal Development of the Hand and the Wrist. 2nd edition. Stanford University Press; 1959.
17.
De Vries L, Horev G, Schwartz M, Phillip M. Ultrasonographic and clinical parameters for early differentiation between precocious puberty and premature thelarche. Eur J Endocrinol Eur Fed Endocr Soc. 2006;154:891–8.CrossRef
18.
Oerter KE, Uriarte MM, Rose SR, Barnes KM, Cutler GB. Gonadotropin secretory dynamics during puberty in normal girls and boys. J Clin Endocrinol Metab. 1990;71:1251–8.CrossRefPubMed
19.
Stagi S, Lapi E, Seminara S, Guarducci S, Pantaleo M, Giglio S, Chiarelli F, de Martino M. Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis. BMC Endocr Disord. 2014;14:3.
20.
Treloar SA, Martin NG. Age at menarche as a fitness trait: nonadditive genetic variance detected in a large twin sample. Am J Hum Genet. 1990;47:137–48.PubMedPubMedCentral
21.
Poyrazoğlu S, Günöz H, Darendeliler F, Saka N, Bundak R, Baş F. Constitutional delay of growth and puberty: from presentation to final height. J Pediatr Endocrinol Metab JPEM. 2005;18:171–9.PubMed
22.
Crowne EC, Shalet SM, Wallace WH, Eminson DM, Price DA. Final height in girls with untreated constitutional delay in growth and puberty. Eur J Pediatr. 1991;150:708–12.CrossRefPubMed
23.
Mul D, Oostdijk W, Drop SLS. Early puberty in girls. Best Pract Res Clin Endocrinol Metab. 2002;16:153–63.CrossRefPubMed
24.
Roche AF, Wellens R, Attie KM, Siervogel RM. The timing of sexual maturation in a group of US white youths. J Pediatr Endocrinol Metab JPEM. 1995;8:11–8.CrossRefPubMed
25.
Sørensen K, Aksglaede L, Petersen JH, Juul A. Recent changes in pubertal timing in healthy Danish boys: associations with body mass index. J Clin Endocrinol Metab. 2010;95:263–70.CrossRefPubMed
26.
Kaplowitz PB, Slora EJ, Wasserman RC, Pedlow SE, Herman-Giddens ME. Earlier onset of puberty in girls: relation to increased body mass index and race. Pediatrics. 2001;108:347–53.CrossRefPubMed
27.
Morrison JA, Barton B, Biro FM, Sprecher DL, Falkner F, Obarzanek E. Sexual maturation and obesity in 9- and 10-year-old black and white girls: the National Heart, Lung, and Blood Institute Growth and Health Study. J Pediatr. 1994;124:889–95.CrossRefPubMed
28.
Anderson SE, Dallal GE, Must A. Relative weight and race influence average age at menarche: results from two nationally representative surveys of US girls studied 25 years apart. Pediatrics. 2003;111(4 Pt 1):844–50.CrossRefPubMed
29.
Herman-Giddens ME, Wang L, Koch G. Secondary sexual characteristics in boys: estimates from the national health and nutrition examination survey III, 1988–1994. Arch Pediatr Adolesc Med. 2001;155:1022–8.CrossRefPubMed
30.
Lee JM, Kaciroti N, Appugliese D, Corwyn RF, Bradley RH, Lumeng JC. Body mass index and timing of pubertal initiation in boys. Arch Pediatr Adolesc Med. 2010;164:139–44.CrossRefPubMedPubMedCentral
31.
Cousminer DL, Stergiakouli E, Berry DJ, Ang W, Groen-Blokhuis MM, Körner A, Siitonen N, Ntalla I, Marinelli M, Perry JRB, Kettunen J, Jansen R, Surakka I, Timpson NJ, Ring S, Mcmahon G, Power C, Wang C, Kähönen M, Viikari J, Lehtimäki T, Middeldorp CM, Hulshoff Pol HE, Neef M, Weise S, Pahkala K, Niinikoski H, Zeggini E, Panoutsopoulou K, Bustamante M, et al. Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. Hum Mol Genet. 2014;23:4452–64.CrossRefPubMedPubMedCentral
32.
Perry JRB, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, et al. Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche. Nature. 2014;514(7520):92–7.CrossRefPubMedPubMedCentral
33.
Lomniczi A, Loche A, Castellano JM, Ronnekleiv OK, Bosch M, Kaidar G, Knoll JG, Wright H, Pfeifer GP, Ojeda SR. Epigenetic control of female puberty. Nat Neurosci. 2013;16:281–9.
34.
Damon A, Bajema CJ. Age at menarche: Accuracy of recall after thirty-nine years. Hum Biol. 1974;46:381–4.PubMed
35.
Casey VA, Dwyer JT, Coleman KA, Krall EA, Gardner J, Valadian I. Accuracy of recall by middle-aged participants in a longitudinal study of their body size and indices of maturation earlier in life. Ann Hum Biol. 1991;18:155–66.CrossRefPubMed
36.
Durand A., Bashamboo A., McElreavey K., Brauner R. R: Predominantly matrilineal inheritance of familial precocious puberty suggests an underlying imprint anomaly 53rd Annual European Society for Pediatric Endocrinology meeting, Dublin, 2014, Abstract in Horm Res Paediatr p 298
Metadata
Title
Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases
Authors
Sarah Winter
Aldjia Ousidhoum
Kenneth McElreavey
Raja Brauner
Publication date
01-12-2016
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2016
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-016-0580-3

Other articles of this Issue 1/2016

BMC Pediatrics 1/2016 Go to the issue

Research article

Refractory wheezing in Chinese children under 3 years of age: bronchial inflammation and airway malformation

Case report

Development of rhabdomyolysis in a child after norovirus gastroenteritis

Study protocol

Positive parenting for healthy living (Triple P) for parents of children with type 1 diabetes: protocol of a randomised controlled trial

Research article

Adolescent’s subjective perceptions of chronic disease and related psychosocial factors: highlights from an outpatient context study

Research article

Incidence of acute otitis media in children below 6 years of age seen in medical practices in five East European countries

Research article

Two years of school-based intervention program could improve the physical fitness among Ecuadorian adolescents at health risk: subgroups analysis from a cluster-randomized trial