ESPE Abstracts

This study investigated the effects of probiotics oral intake during childhood on gut microbiota at the time of puberty onset in lactating female mice. Female mice were administered a probiotic suspension containing Bifidobacterium longum, Lactobacillus bulgaricus and Streptococcus thermophilus from postnatal 21 days for a duration of 7 days. The timing of vulva opening was observed. Fecal samples were collected and analyzed for 16s rDNA and short-ch...

Objective: To explore the therapeutic effects and adverse reactions of a combination of letrozole or Gonadotropin releasing hormone analog (GnRHa) and recombinant human growth hormone (rhGH), compared with rhGH alone, in pubertal short boys.Methods: Sixty-four pubertal short boys were divided into three groups, one group were treated with rhGH (rhGH group, n=21), one group were treated with the combination o...

We have examined a female child patient aged about 3 years and 8months old to confirm the diagnosis of Schmid metaphyseal chondrodysplasia (SMCD) at the Genetics out-patient department, Children's Hospital Affiliated to Zhengzhou University. The child was diagnosed with the abnormal phenotypic characteristics who showed short-limbed dwarfism, bowed legs, waddling gait and genu varum. Based on the child's family history, during the early stages, the child was misdiagnos...

Background: Tamoxifen is a selective estrogen receptor modulator，administrated in girls with precocious puberty such as McCune-Albright syndrome.Objective: To explore the effect of tamoxifen on the linear growth of precocious pubertal female rats.Method: At 16-22 day of age, 16 precocious pubertal female rats(induced by 300 μg danazol s.c. at 5-day old), were randomized...

Background and Objective: The spliceosome-associated protein CWC27 (CWC27) is the main component of the spliceosome and plays an important role in the post-transcriptional modification of mRNA. Retinitis pigmentosa with or without skeletal abnormalities (RPSKA) is an autosomal recessive syndrome caused by variation in the CWC27 gene. The main clinical manifestations of RPSKA include short stature, retinitis pigmentosa, craniofacial deformity, and inte...

Background: CCCTC-binding factor (coded by CTCF gene, OMIM *604167), as a transcription insulation protein, plays a key role for regulating the temporal and spatial transcription of genes related to growth in mammals and topologically associated chromatin loop formation. Pathogenic variants in CTCF gene are associated with mental retardation, autosomal dominant 21 (MRD21, MIM #615502) with short stature, mild facial deformities, and mental re...

Background: Turner Syndrome (TS) is a chromosomal abnormality in females. Primary gonadal failure occurs in most individuals with TS, it is not a constant finding. The data regarding different patterns of pubertal development is limited, and no study performed a comprehensive clinical, hormonal, and imaging evaluation of TS girls throughout the pubertal period.Subjects and Methods: The medical records of 54 girls diagnos...

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...

Objective: To explore the value of continuous hemodiafiltration in rescuing children with severe diabetic ketoacidosis.Method: Two children with severe diabetic ketoacidosis were studied in regard to clinical manifestation, laboratory examination and treatment and of the relevant literature was reviewed.Result: Case 1 was a girl of 13 years 5 months old, who was diagnosed as ‘Type 1 diabetes mellitus, Diabetic ketoacidosis and...