ESPE Abstracts

Background: Aldosterone is a steroid hormone synthesized in the zona glomerulosa of the adrenal cortex. It is important for homeostasis of plasma sodium and potassium levels. Isolated aldosterone synthase deficiency can result in acute salt-losing crisis, severe hyperkalemia, metabolic acidosis, and failure to thrive.Case presentation: An 18-day-old boy, born to consanguineous parents, presented to our hospital for failu...

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

Background: With improved survival of childhood allogeneic hematopoietic stem cell transplant (HSCT), there is increasing need for surveillance, including assessment of endocrine late effects in this cohort1,2.Aim: To evaluate endocrine late effects after chemotherapy and radiation in survivors of childhood allogeneic HSCT.Methods: Multi-site evaluation via medical recor...

Background: With improved treatment and survival of childhood hematological malignancies, the issue of fertility in survivors has become an important domain of holistic care. Haemopoietic stem cell transplant (HSCT) survivors were reported to have reduced fertility as compared to siblings, with 4/170 adult female allogeneic HSCT survivors achieving successful pregnancy.1 Of 532 female survivors, median age of 17.8 years at HSCT, who had TBI conditioning, 13 pregnanc...

We report a 12-year-old boy who has grown up with central hypothyroidism diagnosed since newborn. The boy was born at 41 weeks of gestation with birth weight of 3520 gram. Newborn screening detected abnormal thyroid function – Cord blood TSH 0.86 mIU/L and free T4 6.76 pmol/L, day 6 TSH 0.63 mIU/L and free T4 9.65 pmol/L. History revealed no history of maternal thyroid disease nor family history of thyroid disease, no drugs or herbs intake during pregnancy, and no sympto...

Background: Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene and results in a progressive muscular damage and degeneration. Endocrine complications result from decreased energy expenditure, immobility and glucocorticoid (GC) treatment. Due to the multidisciplinary management and emerging genetic and molecular therapies longer survival is expected and there is an increasing emphasis on the quality of life in DMD. Aim of the study ...

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

Objective: Childhood brain tumor survivors have an increased risk for developing cardiovascular disease, as a consequence of the primary disease itself and/or its treatment. Early detection of children at risk is important to take preventive measures. Carotid intima-media thickness (cIMT), determined with ultrasound, is a non-invasive biomarker of atherosclerosis in its subclinical stage. The study aimed to evaluate metabolic complications and determine cardio...

Objective: To evaluate the severity and the correlates of depressive symptoms in adolescents with obesity comparing to normal adolescents in Hong Kong using a validated screening tools: Patient Health Questionnaire-9 (PHQ-9) for age 11-17 in Hong Kong.Methods: In this prospective and retrospective cross-sectional study. We recruited 840 adolescents, including 306 adolescents with obesity from clinic and local schools. We...

Objective: The onset of obesity complicated with metabolic syndrome in children and adolescents is hidden, the mechanism is unknown, and early warning indicators are lacking clinically. This study conducted multi-omics research on children and adolescents with simple obesity and obesity complicated with metabolic syndrome to provide early clinical diagnosis and drug treatment targets for its occurrence and development mechanism.M...