ESPE Abstracts

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Background: Hypophosphatemic rickets (HR) is most commonly X-linked or autosomal dominant, but autosomal recessive (AR) forms have been described. ARHR1 (DMP1) and ARHR2 (ENPP1) share identical biochemical characteristics of excessive renal phosphate wasting due to increased circulating levels of the phosphatonin FGF23 and low serum levels of 1,25(OH)2D. By contrast, in hereditary hypophosphatemic rickets with hypercalciuria (HHRH) phosphaturia is ...

Background: Hypoparathyroidism may manifest either as an isolated disorder or as a component of a more complex syndrome. Molecular genetic studies indicate that mutations in PTH, CASR, GCM2 and GNA11 are causes of isolated hypoparathyroidism (IH) and mutations in GATA3, TBCE, FAM111A, AIRE and TBX1 are associated with different complex syndromes with hypoparathyroidism.Objec...

Background: We have recently reported a BMI-SDS increase in girls with Turner syndrome (TS) treated with growth hormone (GH) (1).Objective and hypothesis: We hypothesise that puberty induction in TS is associated with weight gain.Method: We analysed the weight changes (BMI-SDS) of 888 girls with TS in the Pfizer International Growth Database (KIGS). Overweight was defined by a BMI >90th percentile and obesity by a BMI >97th...

X-linked dominant hypophosphatemic rickets (XLH) are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The woman has a history of multiple surgical treatments because of lower limb deformities. Through additional quest...

Screening for diabetic retinopathy has been expanded from ophthalmology-based assessments. Retinal photography can be used in primary care by trained photographers, and then graded by trained staff using Telemedicine. Ultrawide retinal cameras can now capture over 80% of the retina from a single image. It may be more predictive of progression to proliferative retinopathy than the traditional views, but cost of equipment for benefit is unclear. There have been advances in D...

Purpose: To investigate the outcomes of GH therapy combined with GnRH agonist for short girls who diagnosed with idiopathic CPP compared to whom treated with GnRH agonist alone.Methods: We performed retrospective reviews, among 1636 patients managed for CPP, collected data of the 166 girls with CPP treated with GnRHa for 36 months or more from January 2002 to December 2016. We divided groups of patients received GnRHa alone (Group A, n=135) or G...

Background: Transient hyperinsulinism (HI) is a condition characterized by high insulin level, low FFA level in a context of severe hypoglycemia in neonate. Our objective is to present a case of a transient hypoglycemia in a newborn. Evaluation and management of this condition is discussed.Case presentation: A 14days old term baby was diagnosed with bilateral bronchopneumonia. He received antibiotics and nasal drop. On d...

Purpose: The aims of this study were to identify the secular changes of WC and WHR, to compare WC with the prior Korean reference, to confirm the distribution of mean WHR values by age and sex, and to determine if WHR cutoff value of 0.5 is an appropriate predicting factor of cardiometabolic risk in childhood, using nationally representative data in children and adolescents.Methods: We performed a retrospective, cross-se...

Methods: We performed retrospective study using database of the patients with congenital hypothyroidism treated with or without Levo-Thyroxine at Bundang Jesaeng General Hospital, from January 1998 to February 2016. Their ages, birth weights, gestational ages, symptoms, ages at diagnosis and treatment were recorded. We measured TSH, free thyroxine (FT4), triiodothyronine (TT3) levels at diagnosis and treatment, and those levels at one, two and three months after treatment. Thy...