ESPE Abstracts

Case: An 8-year-old boy with Down syndrome. He was born at 36 week of gestation, birth weight was 1668 g (-2.5 SD). He complicated transient hyperinsulinemia (THI) treated with diazoxide for 2 months and hypothyroidism continuing treatment with levothyroxine. He was not detected transient abnormal myelopoiesis at neonatal period. He was diagnosed with precursor B-cell acute lymphoblastic leukemia (ALL) at age 8 years and started chemotherapy with a steroid, an...

Background: The Prader and Quigley classifications (P/Q-C), used widely to evaluate external/internal genitalia in differences/disorders of sexual development (DSD) patients, are sometimes unsuitable for determining the stage/grade because they were originally designed to assess 46,XX 21-hydroxylase deficiency (21OHD) and 46,XY androgen receptor defects (ARD), respectively. The external masculinization score (EMS) is also used to assess masculinization of the ...

Circadian clock system is an evolutionarily conserved system, by which organisms adapt their metabolic activities to environmental inputs including nutrient availability. The master pacemaker of the clock system is located in the suprachiasmatic nucleus (SCN) in the hypothalamus. The neurons in the SCN are entrained by the signals from the light through the retinal-hypothalamic tract and the light-dark cycle of the environment creates the rhythmic patterning of behavioral and ...

Background: Children born SGA have been implicated to be at higher risk for subsequent obesity; however, the body composition, especially fat distribution, in SGS short stature (SGA-SS) patients and the effects of growth hormone (GH) therapy on body composition in SGA-SS have not been fully studied.Purpose: To unravel the effects of GH therapy on body fat mass, body fat distribution, muscle mass, and bone mineral density...

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...

Norditropin® was approved for children with short stature due to NS in Japan in 2017. The aim of this post-marketing surveillance study was to evaluate long-term safety and effectiveness of Norditropin® for the approved indication. This real-world non-interventional study (NCT03435627) was conducted February 2018–January 2022. Seventy patients enrolled: 35 received Norditropin® after study initiation (new patients); 35 were previously ra...

Treatment of short stature in children born small for gestational age (SGA) requires daily growth hormone (GH) injections that can be burdensome for patients and caregivers. Once-weekly somapacitan is a long-acting GH in phase 3 development for replacement therapy in children with GH deficiency. We report the 52-week results of the first phase 2, multinational, randomised, open-label, controlled, dose-finding trial (NCT03878446) investigating efficacy and safety of somapacitan...

Background: While existing guidelines recommend long-term follow-up of childhood cancer survivors (CCS), transitional care among pediatric and adult endocrinologists has not been established in Japan.Objective and Hypotheses: To know the present situation and to cultivate a better understanding, we had conducted a nation-wide survey targeting Japanese pediatric endocrinologists.Method</stro...

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...

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...