ESPE Abstracts

Autosomal dominant pseudohypoparathyroidism type-Ib is characterized by renal parathyroid hormone resistance, with resultant hypocalcemia and hyperphosphatemia. This disorder is associated with an isolated loss of methylation at GNAS exon A/B and most patients carry maternal microdeletions in the neighboring STX16 gene. The shortest deletion overlap is a 1.2-kb region spanning STX16 exon 4 and thought to harbor a cis-acting element regulating GNAS A/B methylation. However, abl...

Objective and hypotheses: The purpose was to get the basic data of optimum serum concentration of oestrogen in pubertal growth spurt, minimising the decrease of bone mineral density or acceleration of epiphyseal closure of long bones.Method: i). Fifteen female S.D. rats (4-week aged) were ovariectomised to inhibit their endogenous oestrogen effect and randomly divided into three groups. After 1 week, the group 1 were injected subcutaneousl...

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

Background: Type 1 diabetes (T1D) in teenagers is challenging: the constraints of diabetes add up to the specificities of a delicate age; moreover, this period of life is often associated with impaired metabolic control (i.e. higher hemoglobin A1c - HbA1c). Therapeutic Patient Education (TPE) enables people with chronic diseases to manage their illness and yields benefits in both health and financial terms. The first step of TPE approach is to make an “educational diagnos...

It is acknowledged that children should collaborate in research about their health conditions, and DSD research has been criticised for promoting views of parents and health professionals. However parents are concerned about professionals talking to children about sensitive subjects including fertility and sexual activity. Children may have little experience of talking about their sex development. This makes direct research involving children with DSD particularly challenging....

Objective: To explore the status and the main influencing factors of peripheral nerve conduction dysfunction in Chinese children and adolescents with type 1 diabetes mellitus (T1DM).Methods: Nerve electrophysiological indicators including amplitude, latency and conduction velocity of median nerve, ulnar nerve, superficial peroneal nerve, sural nerve, common peroneal nerve and tibial nerve were collected, and the results ...

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...

Objectives: Premature ovarian insufficiency (POI) is mostly considered X chromosome abnormalities in child. Few of POI cases are associated with autosomal abnormalities. This study was to identify new genes involved POI in three girls.Methods: Three girls who came to the hospital because of no menstruation were investigated. They were 14, 15, and 14 years old. They did not find any breast tissue in their physical examination. Clinical data, sex hormones,...

Background: Excess adiposity may influence various aspects of pubertal development, including the timing of pubertal initiation and hormonal parameters during puberty.Objective and hypotheses: The aim of this study was to clarify the impact of BMI on LH secretion in response to GnRH stimulation test in girls diagnosed with central precocious puberty.Method: Girls with central precocious puberty, who underwent GnRH-stimulation test ...

Objective: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) children with Rathke cyst.Methods: The clinical data of 12 GHD children aged from 5–12 years old, whose radiologic diagnosis showed Rathke cyst during Jan 2010–Dec 2012 in our hospital, were analyzed retrospectively. rhGH was given subcutaneously to each enrolled child with a night dose of 0.1 IU/kg six to seven times a week for 12–30 months. T...