Minipuberty in Klinefelter syndrome: Current status and future directions.
Klinefelter syndrome
XXY
minipuberty
testosterone
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
10
02
2020
revised:
15
04
2020
accepted:
22
04
2020
pubmed:
2
6
2020
medline:
6
5
2021
entrez:
2
6
2020
Statut:
ppublish
Résumé
Klinefelter syndrome is highly underdiagnosed and diagnosis is often delayed. With the introduction of non-invasive prenatal screening, the diagnostic pattern will require an updated description of the clinical and biochemical presentation of infants with Klinefelter syndrome. In the first months of life, the hypothalamic-pituitary-gonadal (HPG)-axis is transiently activated in healthy males during the so-called minipuberty. This period represents a "window of opportunity" for evaluation of the HPG-axis before puberty and without stimulation tests. Infants with Klinefelter syndrome present with a hormonal surge during the minipuberty. However, only a limited number of studies exist, and the results are contradictory. Further studies are needed to clarify whether infants with Klinefelter syndrome present with impaired testosterone production during the minipuberty. The aim of this review is to describe the clinical and biochemical characteristics of the neonate and infant with Klinefelter syndrome with special focus on the minipuberty and to update the clinical recommendations for Klinefelter syndrome during infancy.
Identifiants
pubmed: 32476267
doi: 10.1002/ajmg.c.31794
pmc: PMC7413638
mid: NIHMS1611861
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
320-326Subventions
Organisme : NICHD NIH HHS
ID : K23 HD092588
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals, Inc.
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