ESPE Abstracts

Key words: KBG syndrome, ANKRD11, zebrafish, CRISPR/CasRx, Wnt signaling pathwayBackground: KBG syndrome (KBGS) is a rare condition caused by variant in ANKRD11 gene, which is characterized by intellectual disability, distinctive facial features, macrodontia of the upper central incisors, skeletal anomalies and short stature. Patients carrying loss-of-function ANKRD11 variants exhibit short stature due to defects of bone develop...

Background: Previous studies have speculated that melatonin secreted by the pineal gland plays a role in the regulation of puberty, and pineal cyst may affect its secretory function, thus causing early pubertal development. However, there are few studies on early pubertal development with pineal cyst and its clinical features are not clear. This study aims to explore its clinical features and the relationship with cyst size to further improve the understanding...

Purpose: Identify CYP21A2 gene variants in pediatric patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from Henan, China, and to analyze genotype-phenotype correlations. We also analyze the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype.Materials/Methods:A total of 214 21-OHD children were recruited in Henan children's hospital from 2008 to 202...

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

Objective: This study aimed to investigate the therapeutic effects of recombinant human GH (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).Method: A total of 47 girls with TS were treated with rhGH (47.6–52.4 μg/kg per day) and low-dose stanozolol (20–35 μg/kg per day), starting at a mean age of 12.57±1.96 year. The control group consisted of 26 girls with TS,...

Background: Aromatase inhibitors (AIS) can block the conversion of androgens to estrogens, thus can be used to delay bone maturation in males, however, the effect on improvement of final adult height (FAH) is still controversial.Objective and hypotheses: A prospective study was performed to evaluate the effect of letrozole used on the FAH in males with idiopathic short stature (ISS).Method: 55 boys with ISS and had entered puberty ...

Several observational studies have reported vitamin D deficiency (VDD) in children with type 1 diabetes mellitus (T1DM). The investigation of VDD in children with new onset T1DM in China is lacking. The current study aimed to assess vitamin D status and examine the factors that influence VDD in children with new onset T1DM in Henan Province, China. Children with new onset T1DM (n=280) and healthy controls (n=710) were enrolled in Henan Province. Demographic a...

Background: McCune-Albright Syndrome(MAS）includes fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is uncommon but may be potentially severe complication.Objective: To report a girl who has been confirmed McCune-Albright syndrome and has been found pituitary adenoma during follow-up.Methods:</stron...