A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

IGSF1 deficiency is a rare X-linked condition characterized by central hypothyroidism and a wide variety of other clinical features with variable prevalence, including a delayed pubertal testosterone rise and growth spurt in the context of normal or accelerated testicular growth, and adult macroorch...

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Bibliographic Details
Main Authors: Aslı Derya Kardelen, Esin Karakılıç Özturan, Şükran Poyrazoğlu, Firdevs Baş, Serdar Ceylaner, Sjoerd D. Joustra, Jan M. Wit, Feyza Darendeliler
Format: Article
Language:English
Published: Galenos Yayincilik 2023-12-01
Series:JCRPE
Subjects:
igsf1
central hypothyroidism
short stature
large for gestational age
growth hormone deficiency
prolactin eficiency
Online Access:https://jcrpe.org/jvi.aspx?un=JCRPE-92063&volume=15&issue=4

Internet

https://jcrpe.org/jvi.aspx?un=JCRPE-92063&volume=15&issue=4

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