ESPE Abstracts

Since CGM-based outcomes that are increasingly being used in clinical pediatric diabetes research, this study was aimed at gathering normative sensor data in healthy, non-diabetic children using the recently approved DexCom G6 system. In this multicenter study, healthy, non-diabetic children and adolescents (age 7 to <18 years, BMI between 5th and 85th percentile, and HbA1c <5.7%) were included. Each participant wore a blinded DexCom G6 for approx. 10 days and kept a d...

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...

Background: The incidence of 11β-hydroxylase deficiency is quite low in China, less is reported about the gene mutation in Chinese population.Objective and hypotheses: To analyze the clinical features and CYP11B1 gene mutations of a family with 11β-hydroxylase deficiency (11β-OHD) and literature review were also included.Method: Physical examination and laboratory tests were done on a 4 years old girl and gene mutati...

Background: Micropenis may result from different aetiology and therapy data are still scarce.Objective and hypotheses: To investigate the effect and safety of dihydrotestosterone transdermal gel in children with micropenis.Method: Totally 23 agnogenic micropenis children with 46,XY karyotype were recruited to participate a perspective study. SRY, AR and SRD5A2 gene were sequenced. 2.5% DHT gel was applied individually based on the ...

Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. It’s hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.Objective a...

Background: The correlation between free thyroid hormones and poor diabetic control in children with diabetic ketoacidosis (DKA) and the effects of thyroid hormone therapy on euthyroid sick syndrome (ESS) remain unclear.Objective and hypotheses: To investigate characteristics of ESS in children with DKA and the effects of thyroid hormone therapy on ESS. In children with DKA, free thyroid hormones may be associated with the severity of DKA and thyroid hor...

Background: Congenital hyperinsulinism (CHI) is the most important causes of persistent hypoglycemia in infants during the first few days after birth.Objective and hypotheses: We report an 11-day-old female infant admitted with persistent hypoglycemia since 11 h after born.Method: Multiple tests and imageological examinations were used to detect the cause of hypoglycemia. A whole-body PET CT-scan with [⊃F]-L-di...

Introduction: Permanent neonatal diabetes mellitus (PNDM) is a rare disease which is defined as the onset of diabetes before the age of 6 months with persistence through life. Patients with KCNJ11 or ABCC8 gene mutations have the opportunity to switch to oral sulfonylurea therapy. There were limited studies about the genetic analysis and long-term follow-up of PNDM.Case report: We report four cases of this kind of PNDM, including their genetic mutations,...

Background: Mutations in the side chain cleavage enzyme, (CYP11A1) cause congenital adrenal insufficiency, with complete or partial 46XY sex reversal. The disorder manifests with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system.Objective and hypotheses: To obtain a genetic diagnosis in six patients with adrenal insufficiency of unknown aetiology. Patients 1 and 2 are sisters with ACTH resistance, having...

Background: Ovarian adrenal rest tumours (OARTs) are rare in contrast to testicular adrenal rest tumours (TARTs).Objective and hypotheses: To summarise the characterization of OART in children and adolescent females with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).Method: We have diagnosed four cases of CAH 21-OHD with OART in the recent 5 years and summarised the characterisations.<p class="a...