Minipuberty in Klinefelter syndrome: Current status and future directions
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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Minipuberty in Klinefelter syndrome : Current status and future directions. / Aksglaede, Lise; Davis, Shanlee M; Ross, Judith L; Juul, Anders.
I: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, Bind 184, Nr. 2, 06.2020, s. 320-326.Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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TY - JOUR
T1 - Minipuberty in Klinefelter syndrome
T2 - Current status and future directions
AU - Aksglaede, Lise
AU - Davis, Shanlee M
AU - Ross, Judith L
AU - Juul, Anders
N1 - © 2020 Wiley Periodicals, Inc.
PY - 2020/6
Y1 - 2020/6
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.c.31794
DO - 10.1002/ajmg.c.31794
M3 - Review
C2 - 32476267
VL - 184
SP - 320
EP - 326
JO - American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
SN - 1552-4868
IS - 2
ER -
ID: 250072781