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Licensed Unlicensed Requires Authentication Published by De Gruyter September 11, 2013

Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency

  • Ayca Aykut EMAIL logo , Samim Ozen , Damla Gokşen Sımsek , Huseyin Onay , Ozgur Cogulu , Sukran Darcan and Ferda Ozkinay

Abstract

Combined pituitary hormone deficiency (CPHD) refers to a rare heterogeneous group of conditions in which there is a deficiency in at least two anterior pituitary hormones. Patients with POU1F1 mutations show a combined pituitary deficiency with low or absent levels of growth hormone, prolactin, and thyroid-stimulating hormone. In this study, a 7-month-old girl with a CPHD is presented. She had facial dysmorphologic features, hypertrichosis, and hypotonia. Additionally, she also presented with multiple cutaneous hemangioma that until now has not been reported in association with this disorder.


Corresponding author: Ayca Aykut, Faculty of Medicine, Department of Medical Genetics, Ege University, EUTF Tibbi Genetik AD Izmir 35100, Turkey, E-mail:

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Received: 2013-3-13
Accepted: 2013-7-25
Published Online: 2013-09-11
Published in Print: 2014-01-01

©2014 by Walter de Gruyter Berlin Boston

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