hrp0089p3-p409 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Novel Gene Mutation and Atypical Clinical Phenotype of Kallmann Syndrome

Yumiko Terada , Fujisawa Yusuke , Chiba Yuta , Kinjo Kenichi , Tsukamura Atsushi , Yamaguchi Tomoe , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Case: The case is a 19-year-old woman. Her chief complaint is primary amenorrhea. She was born at 40 weeks of gestational age. Birth weight was 2456 g and birth height was 47 cm and she was admitted to the hospital due to abnormality of facial formation, post-nasal cavity closure and respiratory disorders. Her motor development was delayed (standing at 3 years old, walking at 5 years old) and she underwent plastic surgery for 6 times. On admission her height was 151.6 cm (&#87...