Hypothalamo-Pituitary Insufficiency Associated with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Nihal Hatipoğlu1, Selim Kurtoğlu1, Derya Büyükayhan2, Mustafa Akçakuş21Department Of Pediatrics, Pediatric Endocrinology Unit, Erciyes University Medical Faculty, Kayseri, Turkey 2Department Of Pediatrics, Neonatology Unit, Cumhuriyet University Medical Faculty, Sivas, Turkey
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome with midline defect hypothalamo-pituitary endocrinopathy is expected, however hormonal disorders in EEC syndrome have rarely been reported. We present two patients with EEC syndrome associated with hypothalamo-pituitary insufficiency.