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-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...

hrp0084p2-432 | Gonads | ESPE2015

A Perioperative Change of Anti-Mullerian Hormone and E2 in a Patient with Sex Cord Tumour with Annular Tubules

Shimada Aya , Takagi Masaki , Miyai Kentaro , Fukuzawa Ryuji , Hasegawa Yukihiro

Background: Sex Cord Tumour with Annular tubules (SCTAT) is a rare ovarian benign tumour accounted approximately for 5% of ovarian tumour. SCTAT is an oestrogen producing ovarian tumour and can cause precocious puberty. For SCTAT, oophorectomy is recommended as the first-line therapy. Since SCTAT has a high rate of recurrence, it is clinically important to find a monitor method that can detect cancer recurrence in an early stage. In the previous reports, E2 and anti-mullerian ...

hrp0084p3-1204 | Thyroid | ESPE2015

Use of Liothyronine in a Case of Consumptive Hypothyroidism Caused by Hepatic Hemangiomas

Higuchi Shinji , Takagi Masaki , Goto Masahiro , Hasegawa Yukihiro

Background: Diffuse or multifocal infantile hepatic hemangiomas cause consumptive hypothyroidism due to overexpression of type 3 deiodinase in the endothelium of vascular tumor. Because type 3 deiodinase converts of T4 to reverse T3 and of T3 toT2, a use of levothyroxine alone may not maintain normal levels both fT3 and fT4. T3 therapy in this order has scarcely been reported. We here present a Japane...

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...

hrp0082p1-d3-98 | Sex Development | ESPE2014

A Novel NR5A1 Mutation with Preserved Fertility

Yagi Hiroko , Takagi Masaki , Hasegawa Yukihiro , Igarashi Maki , Kon Masafumi , Fukami Maki

Background: The common phenotype caused by NR5A1 mutations of 46,XY is gonadal dysgenesis without adrenal deficiency. Preserved fertility of the affected males was described in two patients with different mutations. No functional analysis of these two mutations has been done. Here we report brothers with isolated hypospadias who carries a novel heterozygous mutation of c.910G>A, E304K in NR5A1 gene. Their asymptomatic father carries the same nucleotide ch...

hrp0084p1-120 | Puberty | ESPE2015

A Novel LHX4 Mutation is Associated with Hypogonadotropic Hypogonadism, Not Combined Pituitary Hormone Deficiency

Takagi Masaki , Daitsu Takashi , Numakura Chikahiko , Sato Takeshi , Narumi Satoshi , Hasegawa Tomonobu

Background: Mutations in HESX1, SOX3 responsible for combined pituitary hormone deficiency (CPHD) have been identified in a small number of hypogonadotropic hypogonadism (HH), suggesting that the genetic overlap between CPHD and HH.Case presentation: A 2-month-old boy was referred because of micropenis (stretched penile length 1.0 cm) with intrascrotal testes (1 ml). Hormone assays revealed very-low plasma testosterone levels (0.06 ng/m...