ESPE Abstracts

Objective: To investigate the prevalence of hypogonadism in patients with β-Thalassemia Major (β-TM) and explore the risk factors.Method: 42 β-TM patients (≥= 10 years old) were investigated by questionnaire, physical examination and laboratory examination to evaluate their stages of puberty development and sex hormone level.And then,effects of age, the beginning age of chelation, iron overload, geno...

Introduction: This was a population-based retrospective data analysis. The study was part of the Vulnerable Newborn Study, approved by the Hamad Medical Corporation Institutional Review Board (IRB No MRC-01-21-277).Setting and Participants: The population for this analysis comprised of a 4-year cohort data (January 2016 to December 2019) for births conducted in all HMC hospitals (representing 90% of all births in the cou...

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology is incompletely understood, with weight gain being attributed to hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various plasma appetite-regulating hormones in HyOb and ‘simple’ obesity (Ob) to improve our understanding of both forms of obesity and identify novel therap...

Background: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology has been attributed to hyperphagia and hyperinsulinaemia. The wider roles of oxytocin (OXT) in regulating appetite and weight have recently emerged in animal and human studies, but there is no human evidence that hypo-oxytocinaemia contributes to weight gain.Hypothesis: Hypo-oxytocina...

Background: Hypothalamic obesity (HyOb) is a syndrome of inexorable, treatment-resistant obesity seen after congenital (e.g. septo-optic dysplasia (SOD)) or acquired (e.g. tumour-related) hypothalamic damage, often co-existing with hyperphagia, panhypopituitarism, autism, sleep, and temperature dysregulation. Its pathophysiology is poorly understood but hyperphagia and excess caloric intake may be less important than previously thought.Objective and hypo...

Background: Growth Hormone Insensitivity (GHI) is characterised by short stature and functional IGF-I deficiency associated with normal/elevated GH levels. Marked genetic and phenotypic heterogeneity exist, and heritable defects in GH-IGF-I axis genes/associated pathways account for mild-moderate to severe GHI cases. We report twin brothers from a non-consanguineous kindred who present with short stature and bi-allelic mutations in QSOX2 encoding the nuclear m...

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

Background: Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. The incidence in term neonates is 0.00014-0.001%. The condition presents at extremes of childhood, at birth when maternal circulating hormones are raised and at menarche when oestrogen production commences. Pseudohypoaldosteronism (PHA)...

Context: Craniopharyngiomas are rare, suprasellar tumours with excellent 5-year survival rates of 95%. Despite their benign histology, their tendency to invade vital nearby optic, hypothalamopituitary and vascular structures, complicates resection whilst potentially causing secondary life limiting morbidity, panhypopituitarism and premature mortality. Since 1997, conservative hypothalamic-sparing surgery and radiation to the residual tumour has replaced aggressive resection at...

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...