Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
Makaleler > Tam Makale · 2013
Yazarlar: Ayça AYKUT, Samim ÖZEN, Ruhsar Damla GÖKŞEN, HÜSEYİN ONAY, Muhsin Özgür ÇOĞULU, Şükran DARCAN, Feriştah Ferda ÖZKINAY
Journal of Pediatric Endocrinology and Metabolism, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2013, cilt 27, ss 171-4
Özet
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.