ESPE Abstracts

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

Turner syndrome (TS) patients are at risk for a constellation of neurocognitive and psychosocial diseases. TS is associated with an increased risk for difficulties with visual–spatial reasoning, visual–spatial memory, attention, executive functioning, motor, and math skills. Additionally, increased rates of social difficulties, anxiety, and depression are observed.Here we report the case of a 16-years-old Caucasian girl who came to our attentio...

Objective: To understand the clinical characteristics, etiological distribution and related metabolic problems of children with premature pubarche.Methods: The clinical data of 55 cases of premature pubarche were summarized. All the children were tested by ACTH stimulation test and GnRHa stimulation test, of which 17 cases were detected by CYP21A2 gene,and 16 cases of Premature Adrenarche (PA) and 14 cases of Isolated Pr...

An 11-year-old boy came to our hospital on 2019-1-23 because of "discovered hypercalcemia for 4 months."Past History: The child has a history of lupus nephritis for 2 years, and currently oral prednisone 12.5mg qd, mycophenolic acid 0.25g q12h, tacrolimus 1mg q12h for treatment. The lupus activity index was reviewed once a month due to lupus nephritis. At present, SLEDAI (lupus activity score) is 2 points, and the condition is we...

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...

Background: Detail knowledge of pubertal development mode in girls with Turner syndrome (TS) who underwent hormone replacement therapy (HRT) is benefit for the proposal of an optimal HRT. The study was to study the pubertal development mode of girls with TS who underwent HRT and to evaluate the optimal therapy for sex induction in girls with TS.Method: We present a retrospective, longitudinal study over the past two deca...

Objective: The study was to detect the proper regimen of estrogen in HRT in girls with TS.Method: We conducted a retrospective, longitudinal study with 76 girls with TS from The First Affiliated Hospital of Sun Yat-sen University over the past two decades.Results: The investigation time was 3.00 (2.00, 4.66) yrs. The uterine volume grew significantly till B4 stage when compared wit...

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...

Increasing evidence suggests that the aetiology of disorders of sex development cannot be solely explained by genetic alterations. It is highly likely that environmental factors hitting susceptible genetic backgrounds are partly causative. Zebrafish sex is highly plastic during development, making this species an ideal model for investigation of endocrine disruption and gonadal development and function. However, the hormonal regulation of these processes in zebrafish is poorly...

Glucocorticoids regulate a wide range of biological processes including metabolism. Patients with adrenal insufficiency show impaired glucocorticoid biosynthesis either caused by adrenal defects (primary adrenal insufficiency) or by defects in the pituitary gland or hypothalamus (secondary or tertiary adrenal insufficiency). The systemic consequences of differentially disrupted steroid hormone biosynthesis remain unclear. Increasing evidence suggested steroid hormone precursor...