ESPE Abstracts

Objective: This study was to measure quality of life (QOL) of the primary caregivers for young children with Prader-Willi syndrome (PWS).Methods: The children with PWS consisted of 32 children. The QOL of the caregiver for each patient was assessed using the Chinese version of the WHOQOL-BREF, and the Infants-Junior Middle School Students' Social-Life Abilities Scale was used to evaluate the social adaption capacity ...

An association between Turner syndrome (TS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is rare. TS is caused by partial or complete loss of the second sexual chromosome which leads to genital system malformation and infertility. 21-hydroxylase deficiency is a well-known cause of disorder of sexual development in genotypic female neonates.The aim of our study is to report this patient and stress this rare possibility. A 8-month-old patient sufferi...

Background: The Phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency was recognized to cause the congenital disorders of glycosylation (CDGs). PGM1 deficiency is a rare, autosomal recessive inherited disease which can cause the extreme variability of clinical symptoms multi-organ dysfunction, including ketotic hypoglycemia, dilated cardiomyopat...

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

Background: Kabuki syndrome (KS) is a rare dominant disorder of transcriptional regulation with a complex phenotype including cranio-facial dysmorphism, intellectual disability, developmental delay, hypotonia, failure to thrive, short stature and variable cardiac and renal anomalies. Mutations in either KMT2D or KDM6A cause KS. While the phenotype of KS has been reported in many ethnicities, little is known about the phenotypic spectrum of KS...

Context: Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort.Objective: To determine the etiologic diagnosis through unbiased large-scale panel sequencing and whole-exome sequencing (WES) within a large Chinese DSD cohort.Design: Patients were recruited according to the ...

Objectives: To compare the levels of E2 in girls measured by LC-MS/MS and CLIA, and to evaluate the correlations between E2 levels and bone age, uterine length, and uterine volume.Methods: 133 newly diagnosed girls were selected. There were 80 girls in the ICPP group (44 in the Tanner II stage in the ICPP group, 36 in the Tanner III in the ICPP group), and 53 in the PT group， 40 healthy girls in the Tanner III gro...

Objectives: To compare the levels of estradiol (E2) in girls measured by liquid chromatography tandem-mass spectrometry (LC-MS/MS) and chemiluminescence immunoassay (CLIA), and to evaluate the correlations between E2 levels measured by the two methods and bone age, uterine length, and uterine volume. To explore the difference, consistency, and accuracy of LC-MS/MS and CLIA in determining E2 in girls with idiopathic central precocious puberty (ICPP), premature ...

Background: It is not yet clear whether the adult height (AH) is affected by the onset of puberty at 6 or 7 years old in girl in China.Objective and hypotheses: To evaluate AH in girl with the onset of puberty at 6 or 7 years old.Method: The standard of AH in girl was considered that their bone ages were equal to (or greater than) 15 years old or they were at least 3 years post-menarche. Eighty-two girls with the onset of puberty a...

Background: The onset of puberty is a complex biological process involving numerous factors under the control of the neuroendocrine pathways that are regulated as part of the hypothalamus-pituitary-gonadal (HPG) axis. The key step in puberty onset is activation of gonadotropin releasing hormone (GnRH) pulses and secretion. Recent evidence suggests that the Lin28/let7 pathway might be a critical regulator of GnRH release and that it might play an important role...