ESPE Abstracts

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 ...

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...

Background: Congenital hyperinsulinaemic hypoglycaemia (CHI) can cause various degrees of hypoglycaemia in infancy. In mild CHI, unnoticeable recurrent hypoglycaemia may cause deterioration of central neurological functions in patients. We report a case of mild CHI that presented with developmental delay without any previous hypoglycaemic events.Case presentation: An 18-month-old Japanese girl was admitted to our hospital with seizures and unconsciousnes...

Background: For many years, raising awareness on early referral to endocrinologist, early diagnosis, and treatment continuation for paediatric patients with growth hormone deficiency (GHD) has been continued in Japan. However, the current status of trends in age at diagnosis and of treatment continuation have not been fully clarified.Aim: The aim of this study is to estimate the persistence to growth hormone treatment (G...

Background: The thyroid dysfunction is one of the frequently seen complications after bone marrow transplantation (BMT). Although hypothyroidism is the most common thyroid disease after BMT, hyperthyroidism is a rare condition. Herein, we report a series of 2 patients who were euthyroid before BMT but developed hyperthyroidism after transplantation.Objective: Case reports and the frequency of hyperthyroidism after BMT in our institute. Case 1:</s...

Previous studies have shown that poor adherence to recombinant human growth hormone (r-hGH; Saizen®) therapy is associated with decreased efficacy outcomes and increased healthcare costs. Easypod™ is the only electronic injection device that enables continuous monitoring of adherence to treatment. Early recognition of non-adherence is essential in the management of long-term outcomes of r-hGH therapy. This analysis aimed to evaluate adherence to r-hGH therapy adminis...

Background: Perrault syndrome is a rare autosomal recessive disorder characterised by sensorineural hearing deafness in both sexes and primary ovarian failure in 46, XX karyotype females. HSD17B4, HARS2, LARS2, CLPP and C10orf2, which associated mitochondrial function, are reported as causative genes.Objective and hypotheses: Here we reported on a Japanese patient who identified C10orf2 mutation with the fourth patient in Perrault syndr...

Background: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by the overexpression of CYP19A1 at 15q21. Patients with AEXS manifest various clinical features associated with oestrogen excess; gynecomastia, hypogonadotropic hypogonadism, and advanced bone age are the most salient features in this condition.Objective and hypotheses: The primordial treatment of the gynecomastia in patients with AEXS is surgical mastecto...

Introduction: McCune-Albright syndrome (MAS) is caused by somatic mosaic mutations in the GNAS gene. Detection of the GNAS mutations is usually difficult because of the low frequency mosaicism. Droplet digital polymerase chain reaction (ddPCR) is a new technology that enables to measure absolute quantities of target nucleic acids in a sample by counting nucleic acid molecules encapsulated in discrete water-in-oil droplet partitions.<p cla...

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by a short stature, congenital heart defects, and characteristic facial features. Gain-of-function mutations of multiple genes in the Ras/mitogen activated protein kinase pathway have been identified in 70–80% of patients with NS. Recently, leucine-zipper-like transcription regulator 1 (LZTR1), which has not previously been associated with the pathway, was reported as a new causative...