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...

hrp0082p1-d3-193 | Pituitary | ESPE2014

A Novel Mutation of OTX2 Associated with Neonatally Diagnosed Combined Pituitary Hormone Deficiency and Bilateral Microphthalmia

Shimada Aya , Takagi Masaki , Hasegawa Yukihiro

Background: Orthodenticlehomeobox 2 (OTX2) is a transcription factor implicated in pituitary, ocular, and craniofacial development. To date, more than 30 mutations in OTX2 have been described in congenital hypopituitarism (CH) with or without ocular malformation. The pituitary phenotype varied from isolated GH deficiency (IGHD) to Combined Pituitary Hormone Deficiency (CPHD). However, CPHD including ACTH deficiency from neonatal period was rare among the previous reports. Here...

hrp0082p2-d2-273 | Adrenals & HP Axis (1) | ESPE2014

Nonclassic Lipoid Adrenal Hyperplasia with R272C STAR Mutation: a Case Report

Miyoshi Tatsuya , Takagi Masaki , Hasegawa Yukihiro

Background: The StAR protein is crucial for the transportation of cholesterol to the mitochondria, where it is converted to pregnenolone. Complete loss of StAR protein function impairs adrenal and gonadal steroidogenesis since the fetal period, called classic lipoid adrenal hyperplasia (CLAH). Nonclassic lipoid adrenal hyperplasia (NCLAH) is a recently recognized disorder, with partial StAR protein function, and several mutations causing NCLAH have been reported.<p class="...

hrp0082p3-d2-965 | Sex Development (1) | ESPE2014

Mosaicism Ratios of 45,X to 46,X IdicY Explained a Phenotype in a Case with Mixed Gonadal Dysgenesis

Hatano Megumi , Fukuzawa Ryuji , Hasegawa Yukihiro

Background: Patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY may manifest complications characteristic of Turner’s syndrome. We here present a 10-year-old male with MGD who had coarctation of aorta. At birth, he was found to have hypospadias, bifid scrotum and cryptorchidism. Chromosomal analysis of lymphocytes revealed a karyotype of 46,X idic Y (23)/45,X (7). Left gonadectomy was performed in infancy and the removed gonad showed s...

hrp0092p1-298 | Adrenals and HPA Axis (2) | ESPE2019

First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly Each Other with in 21-Hydroxylase Deficiency

Itonaga Tomoyo , Izawa Masako , Hamajima Takashi , Hasegawa Yukihiro

Background: Biochemically monitoring 21-hydroxylase deficiency (21OHD) treatment is challenging. Serum/blood 17-hydroxyprogesterone (17OHP) measurements, especially in the early morning before medication, are traditionally used for this purpose. Urinary pregnanetriol (PT), a urinary metabolite of 17OHP, may also be used. Based on auxological data, we previously reported that the first morning PT value in the range of 2.2–3.3 mg/gCr is optimal for monitori...

hrp0086p2-p420 | Gonads &amp; DSD P2 | ESPE2016

Congenital Adrenal Lipoid Hyperplasia in a 30-Year-Old Female with a Tall Stature

Wada Yasunori , Miyoshi Tatsuya , Hasegawa Yukihiro , Chida Shoichi

Background: Congenital lipoid adrenal hyperplasia is an autosomal recessive adrenal and gonadal steroidogenesis disorder usually caused by a genetic abnormality in the STAR gene encoding the steroidogenic acute regulatory protein (StAR). For 46,XY cases, sex steroid hormone replacement therapy must be initiated together with glucocorticoid and mineralocorticoid treatment.Objective and hypotheses: We present the case of a 30-year-old female with ...

hrp0082p3-d3-920 | Pituitary (1) | ESPE2014

A Case of Hypopituitarism Caused by Traumatic Brain Injury in Infancy

Higuchi Shinji , Nishina Noriko , Takagi Masaki , Hasegawa Yukihiro

Background: While reports of hypopituitarism resulting from traumatic brain injury are increasingly common in European countries, long-term clinical courses are scarcely documented. We here present Japanese 31-year-old case with hypopituitarism caused by traumatic brain injury at the age of 5 months.Objective and hypotheses: To clarify the evolution of clinical and endocrinological data for 30 years in this patient. We hypothesize that the evolution prog...

hrp0084p2-207 | Bone | ESPE2015

A Novel PRKAR1A Gene Mutation with Mild Brachydactyly

Yagi Hiroko , Takagi Masaki , Mistui Toshikastu , Hasegawa Tomonobu , Hasegawa Yukihiro

Background: Acrodysostosis is a rare skeletal dysplasia with severe brachydactyly, facial dysostosis and nasal hypoplasia. Some patients show hormone resistance whose phenotypes are similar to pseudohypoparathyroidism (PHP). In 2012, PRKAR1A gene was identified as one of the responsible genes of Acrodysostosis with hormonal resistance (ADOHR). Generally, brachydactyly is severe and hormone resistance is mild in Acrodysostosis patients.Objective and hypot...

hrp0084p2-234 | Bone | ESPE2015

Variable Degree of Hormonal Resistance in Patients with Progressive Osseous Heteroplasia

Miyai Kentaro , Nishina Noriko , Takagi Masaki , Goto Masahiro , Hasegawa Yukihiro

Background: Progressive Osseous Heteroplasia (POH) is characterised by heterotopic ossifications in a deep muscle and fascia. To date, GNAS1 gene loss-of-function mutations on paternal allele were reported as responsible for POH. Unlike other GNAS1 related diseases such as pseudohypoparathyroidism 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP), patients with typical POH do not show hormonal resistance (HR) or Albright hereditary osteodystrophy (AHO). But some patients dia...

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...