ESPE Abstracts

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

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...

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...

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...

Background: Melnick-Needles syndrome (MNS), a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is caused by mutation of the gene FLNA, which results in disrupted production of filamin A and affects skeletal development. Short stature can be one of the clinical features of MNS.Case presentation: An 8-year-old girl who underwent multiple surgeries for gait disturbance was referred to the d...

Background: Over the last 25 years more than 410 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. Mutations in the MC2R were first discovered as causative of FGD in 1...

Background: The estimated estradiol (E2) dose required for pubertal induction in hypogonadal girls is about 1/10 of the adult dose. Previous studies have shown that it is possible to provide an individualized and physiological dose for pubertal induction by cutting the patch into smaller pieces. However, the manufacturers do not guarantee stability or utility of cut E2 patches, primarily designed for postmenopausal women, and have no interest in that eval...