Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. UMS was...

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Bibliographic Details
Main Authors: Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, Maria Teresa Bonati
Format: Article
Language:English
Published: Bioscientifica 2018-12-01
Series:Endocrine Connections
Subjects:
puberty
pituitary
hypothalamus
pediatric endocrinology
rare diseases/syndromes
neuroendocrinology
midline defects
micropenis
nipple hypoplasia
TBX3
Online Access:https://ec.bioscientifica.com/view/journals/ec/7/12/EC-18-0486.xml

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