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...

hrp0084p3-1022 | Growth | ESPE2015

Postnatal Growth and Biochemical Markers of Late Preterm Infants: Prospective Birth Cohort

Yoshida Tomoko , Takahashi Chie , Uchida Noboru , Nakao Kanako , Sugawara Daisuke , Tanaka Yasuko , Tanaka Hiroyuki , Chiba Yuta , Terada Yumiko , Mizutani Kazuko , Naiki Yasuhiro , Horikawa Reiko

Background: Late preterm birth (defined as infants born between 34 and 36 weeks of gestational age) is increasing worldwide. Their postnatal growth has not been fully investigated.Objective and hypotheses: To identify the characteristics of postnatal growth and biochemical markers in late preterm infants.Method: Among 2014 children in the birth cohort study conducted from 2010, 51 children were born late preterm with birth weight a...

hrp0095p2-277 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Study of the epidemiological, clinical and metabolic markers during an anomaly of sexual differentiation in children

Touzani Asmae , Chiba Salma , Chabraoui Layachi , Filali-Malhouf Abdelkarim , Abdelmoumen Hanaa , Dami Abdellah , Balouch3 Lhoucin , Kriouile Yamna , Gaouzi Ahmed

The anomalies of sexual differentiation correspond to congenital chromosomal, gonadal or phenotypic atypia of sexual development that group together pathologies with an undifferentiated or poorly differentiated aspect of the external genitalia and/or internal, or a state of mismatch between external genitalia and internal organs genitalia. The objective of this work is to describe the epidemiological, clinical and metabolic biomarker profiles in patients with abnormalities of ...