Ontology highlight
ABSTRACT:
SUBMITTER: Galazzi E
PROVIDER: S-EPMC6300862 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Galazzi Elena E Duminuco Paolo P Moro Mirella M Guizzardi Fabiana F Marazzi Nicoletta N Sartorio Alessandro A Avignone Sabrina S Bonomi Marco M Persani Luca L Bonati Maria Teresa MT
Endocrine connections 20181201 12
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 suspected in two unrelated probands referred to an academic center with delayed puberty because of the evident ulnar ray and breast defects in their parents. Clinical, biochemical and genetic investi ...[more]