Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.
CHARGE syndrome is a congenital disorder caused by mutation of the chromodomain helicase DNA binding protein 7 (CHD7) gene and is characterized by multiple anomalies including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital and/or urological abnormalities, ear anomalies, and hearing loss. In the present study, 76% of subjects had some type of endocrine disorder: short stature (72%), hypogonadotropic hypogonadism (60%), hypothyroidism (16%), and combined hypopituitarism (8%). A mutation in CHD7 was found in 80% of subjects. Here, we report the phenotypic spectrum of 25 Japanese patients with CHARGE syndrome, including their endocrinological features.
['Shoji|Yasuko|Y|', 'Ida|Shinobu|S|', 'Etani|Yuri|Y|', 'Yamada|Hiroyuki|H|', 'Kayatani|Futoshi|F|', 'Suzuki|Yasuhiro|Y|', 'Kosaki|Kenjiro|K|', 'Okamoto|Nobuhiko|N|']
CHARGE syndrome CHD7 endocrinological features