Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.
congenital disorders
pituitary disorders
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
10 May 2019
10 May 2019
Historique:
entrez:
13
5
2019
pubmed:
13
5
2019
medline:
18
12
2019
Statut:
epublish
Résumé
Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Maternal UPD of the chromosome 14 (UPD(14)mat, Temple syndrome) is a rare disorder with heterogeneous clinical presentation. Here, we report a case of UPD(14)mat with a small supernumerary marker chromosome in a 6-year-old baby girl, presenting endocrinological disorders and incomplete clinical presentation. She came to our attention because of precocious beginning of pubarche and normal stature. Most of Temple syndrome signs were lacking. Provocative tests diagnosed incomplete growth hormone (GH) response and confirmed precocious puberty. One year treatment with recombinant human GH and gonadotropin-releasing hormone (GnRH) agonists proved successful, increasing height and arresting puberty. We recommend provocative tests for GH in UPD(14)mat as a GH deficiency can be hidden by a concurrent precocious puberty. Concomitant human GH and GnRH analogue treatment can be pursued.
Identifiants
pubmed: 31079043
pii: 12/5/e228662
doi: 10.1136/bcr-2018-228662
pmc: PMC6536159
pii:
doi:
Substances chimiques
Triptorelin Pamoate
08AN7WA2G0
Human Growth Hormone
12629-01-5
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Clin Endocrinol (Oxf). 2015 Nov;83(5):671-6
pubmed: 26119964
Am J Med Genet A. 2006 Oct 1;140(19):2039-49
pubmed: 16906536
Med J Aust. 1961 Jul 29;48(2):182-4
pubmed: 13717495
Sex Dev. 2018 Aug 9;:
pubmed: 30089300
Am J Pathol. 2011 Oct;179(4):2120-30
pubmed: 21871428
Am J Med Genet A. 2004 May 15;127A(1):21-5
pubmed: 15103712
Tohoku J Exp Med. 2005 Dec;207(4):333-8
pubmed: 16272804
Nat Genet. 2008 Feb;40(2):237-42
pubmed: 18176563
Prenat Diagn. 2004 Aug;24(8):647-52
pubmed: 15305356