hrp0084p2-311 | DSD | ESPE2015

The Localisation of Cells with XX and XY in Gonadal Tissues Associated with Ovotesticular Disorder of Sexual Development with a 46,XX/46,XY Karyotype

Nishina Noriko , Fukuzawa Ryuji , Ishii Tomohiro , Hasegawa Tomonobu , Hasegawa Yukihiro

Background: Individuals with a mixed 46,XX and XY karyotype, categorized as ovotesticular disorder of sexual development (ODSD), have gonads with either an ovary in one side and a testis in the other side or an ovotestis.Objective and hypotheses: This study aimed to investigate the relationship between sex chromosomes and testicular and ovarian cell types in gonadal tissues associated with ODSD patients with 46,XX/46,XY.Method: Gon...

hrp0084p3-784 | DSD | ESPE2015

A Cross-Sectional Growth Reference and Chart of Stretched Penile Length for Japanese Boys Aged 0–7 Years: Ethnic Differences and Secular Changes

Ishii Tomohiro , Matsuo Nobutake , Inokuchi Mikako , Hasegawa Tomonobu

Background: Reference values for penile length have not been established for Japanese boys.Objective: We aimed to develop percentiles and means with standard deviations of stretched penile length (SPL) in Japanese boys.Method: We conducted a cross-sectional study in 1 628 Japanese boys aged <9 years from 2007 through 2014. The LMS method was used to develop a growth reference and chart for SPL in boys aged 0–7 years. Inter...

hrp0092p1-115 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Mutation Screening of the Sonic Hedgehog Signaling-Related Genes in 120 Japanese Patients with Congenital Hypopituitarism

Takagi Masaki , Sato Takeshi , Fujiwara Ikuma , Nagashima Yuka , Narumi Satoshi , Ishii Tomohiro , Hasegawa Tomonobu

Introduction: The Sonic hedgehog (SHH) signaling pathway plays a crucial role in development of the forebrain and pituitary. Mutations in SHH signaling related genes are well known to be the cause of Holoprosencephaly (HPE), which results from developmental field defect or impaired midline cleavage of the embryonic forebrain, and is frequently associated with hypopituitarism. This study aimed to define the prevalence of congenital hypopituitarism (CH) in terms...

hrp0092p1-275 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Outcome of Testicular Function in Nonclassic Lipoid Congenital Adrenal Hyperplasia

Ishii Tomohiro , Hori Naoaki , Amano Naoko , Aya Misaki , Shibata Hirotaka , Katsumata Noriyuki , Hasegawa Tomonobu

Background: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by defect in adrenal and gonadal steroidogenesis and lipid droplet accumulation in steroidogenic cells. 46,XY patients with classic LCAH typically present with female-type external genitalia, while those with nonclassic LCAH have masculinized external genitalia. The rarity of the nonclassic form precludes the clarification of pubertal and reproduc...

hrp0086p1-p103 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Monostotic Fibrous Dysplasia is a Single Disorder Caused by Somatic Mosaic Activating Mutations in GNAS

Shibata Hironori , Narumi Satoshi , Ishii Tomohiro , Sakamoto Yoshiaki , Nishimura Gen , Hasegawa Tomonobu

Background: Monostotic Fibrous Dysplasia (MFD) is thought to be caused by somatic mosaic activating mutations in GNAS. However, previous GNAS mutation analyses of MFD patients using direct sequencing of bone samples detected activating GNAS mutations only in 21 of 40 cases (52.5%) (Hum Pathol 2012; 43: 1234). We reported that next generation sequencing (NGS) detected somatic activating GNAS mutations sensitively from peripheral bloo...

hrp0084p3-1110 | Pituitary | ESPE2015

Two Cases of Combined Pituitary Hormone Deficiency Proven to have Mutations of GLI2

Nagashima Yuka , Takagi Masaki , Hasegawa Yukihiro , Sato Takeshi , Ishii Tomohiro , Hasegawa Tomonobu

Background: GLI2 is a transcription factor in Sonic Hedgehog signaling and implicated in ventral forebrain and pituitary development. GLI2 mutations were reported not only in patients with holoprosencephaly but also in patients with pituitary hormone deficiencies without holoprosencephaly. Other phenotypes of GLI2 mutations are midline facial defects, cleft hands and feet, and polydactyly. We report two patients with combined pituitary hormone defici...

hrp0092p2-217 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Effect of Testosterone Enanthate Therapy on Adult Height, Genital Maturation, and Bone Mineral Density in Children and Adolescents with Male Hypogonadotropic Hypogonadism

Shibata Hironori , Ishii Tomohiro , Hori Naoaki , Sasaki Goro , Kamimaki Tsutomu , Anzo Makoto , Tamai Shinya , Sato Seiji , Matsuo Nobutake , Hasegawa Tomonobu

Background: Testosterone enanthate (TE) therapy was established for children and adolescents with male hypogonadotropic hypogonadism (c/a MHH). However, the effect of TE therapy on adult height (AH), genital maturation, and bone mineral density (BMD) in c/a MHH has not been described well.Objective: To assess the effect of TE therapy in c/a MHH on the achievement of genetic height potential, pubertal development, and bon...

hrp0084p3-1073 | Hypo | ESPE2015

Auxological Characteristics of Persistent Hyperinsulinemic Hypoglycemia at Birth

Shibata Hironori , Yamada Mamiko , Ishii Tomohiro , Matsuzaki Yohei , Ikeda Kazushige , Nagashima Yuka , Takagi Masaki , Hasegawa Yukihiro , Hasegawa Tomonobu

Background: Most infants with persistent hyperinsulinaemic hypoglycaemia (PHH) are born large for gestational age (LGA) due to excessive anabolic effect of prenatal hyperinsulinism. However, other auxological characteristics than weight in infants with PHH have not been described well.Objective: The objective of this investigation was to characterize anthropometric parameters at birth (weight, length, and head circumference) in PHH compared with those in...