ESPE Abstracts

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...

Background: Endocrine-disruptor compounds (EDCs) like phthalates and bisphenol A (BPA) can have long term effect on children's physical growth. Studies have reported that effect of EDCs exposure on concurrent physical parameters like weight. But there is a knowledge gap with regards to long term effects of EDCs exposure on children's physical growth. Thus, in this study we evaluated the prenatal exposure of EDCs: BPA and phthalates and their influence ...

Objective: To investigate the clinical and molecular characteristics of a girl with aldosterone synthase deficiency type II (ASDII). We also identified the consequences of a novel splice site mutation in the CYP11B2 gene.Materials and Methods: A4-month-old girl presented with vomiting, diarrhea, and failure to thrive. Her 17α-OHP, cortisol, renin, and aldosterone were all in the normal range, and the ACTH stimulatio...

Introduction: Type 1 diabetes mellitus (T1DM) is commonly associated with other organ – specific autoimmune disorders. Autoimmune thyroid disease (AITD) is the most common comorbid autoimmune condition in patients with T1DM. The occurrence of both T1DM and AITD is defined as Autoimmune Polyglandular Syndrome type 3 variant (APS3v). We sought to clarify thyroid autoimmunity in a cohort of Malaysian patients with T1DM.Methods<...

Objective: To determine the mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with bilateral gonadoblastoma and coexisting dysgerminoma. Evaluate the functional consequence of mutated SRY gene in the tumor risk of 46,XY DSD.Methods and Materials: The proband was a 13-year-old girl who was admitted for examination due to undeveloped secondary sexual characteristics. She had no breas...

Objective To study a large Chinese family with Type A Insulin Resistance Syndrome (TAIRS) and the members’ clinical phenotypes. Explore their genotype-phenotype relationship between environmental factors and hereditary features. Methods 19 members of the family were investigated for their past history, dietary habits and living habits. PCR and Sanger sequencing were applied to detect mutations of the INSR gene among 6 core members from the Pedigree. Besides, fasting blood...

Background: Humans are exposed to a variety of endocrine disruptors (EDs), including phthalates and phenol substitutes, in daily life. Previous studies have suggested the association between individual EDs and the risk of obesity, however, studies on the effects of multiple EDs have been extremely limited. We investigated the associations of urinary 12 phthalates, 3 polycyclic aromatic hydrocarbons, and 26 phenol substitutes with adiposity measures in Korean girls.<p class...

Objectives: To describe the characteristics of central precocious puberty in patients at Children’s Hospital 2, Vietnam from 1/2010 to 12/2016.Method: Cross – sectional analysis.Results: There were 504 cases of central precocious puberty. The mean age was 7.6±1.4 years old; most of them were females (females/males: 71/1). The rate of overweight or obesity was 52.4%, accelerated height was recorded in 64.2%. The most ...

Background: A 3-year-old boy appeared healthy at birth and did not experience any fractures until 12 months of age. Blue sclera, frequent fractures without adequate trauma, nearly normal stature, the absence of dentinogenesis imperfecta, no bony deformity, and no limitation of mobility were characteristics suggestive of OI type I that were observed in the patient. The patient’s mother had blue sclera and a history of frequent fracture episodes until the age of 15 years.</...

Objective and hypotheses: To evaluate the long-term efficacy of triptorelin 3.75 mg subcutaneously injection every 6 weeks on final height in girls with ICPP.Method: Forty females with ICPP received triptorelin 3.75 mg every 6 weeks subcutaneously injection and reached FAH were collected. These patients were divided into two groups. Group A: GnRHa alone, n=17; group B: triptorelin+rhGH, n=23. During the treatment, height, weight, annual...