ESPE Abstracts

Introduction: Pseudohypoparathyroidism (hereafter named iPPSD for inactivating PTH/PTHrP Disorder) is a rare disease characterized by hormonal resistance including PTH, subcutaneous ossifications, short stature, brachymetacarpy and early onset obesity. iPPSD type 2 and 3 are caused by genetic or epigenetic variations in the GNAS gene or its promoters. Although uncommon features have been identified such as severe asthma or sleep apnea, digestive manifestations...

Background/aim: Hyperparathyroidism (HPHT) is a common feature in patients with X-linked hypophosphatemia (XLH) especially when treated with vitamin D analogues and phosphate supplements. Although the exact mechanism is not clear, it is assumed that phosphate supplements taken chronically stimulate parathyroid hormone (PTH) secretion. We prospectively assessed the effect of a novel pathogenetic treatment anti-FGF23 (burosumab) on PTH levels in children with XL...

Background: Disproportionate short stature is seen in most individuals with X-linked hypophosphatemia (XLH). Vitamin D and phosphate supplementation can improve growth slightly. Burosumab showed minimal improvement of growth in older children. No growth data of XLH children that started burosumab at a very young age, i.e., between 1 and 4 years, are available.Methods: We included 17 XLH children (11 boys) who started bur...

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by mutations in PHEX, leading to elevated FGF23 levels, hypophosphatemia and chronic renal phosphate wasting. Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of XLH. Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: ...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, characterized by chronic hypophosphatemia. XLH children present with progressive skeletal deformities (leg bowing, waddling gait, poor growth and disproportional short stature), dental abscesses, and craniosynostosis. Most affected children have been treated so far with multiple dail...

Background: In humans, the GHN gene transcription is under the control of a Locus Control Region (LCR) enhancer, HSI, located 14.5 kb 5′ to the hGHN promoter. POU1F1, a pituitary-specific transcription factor, plays an essential role in the specification of the somatotroph, lactotroph and thyrotroph lineages and the activation of GHN, PRL and TSH gene transcription. All POU1F1 mutations so far reported have been linke...

Background: Hematocolpos is a rare condition in young girls that can be caused by imperforated hymen or vaginal agenesis. It is usually diagnosed at early puberty with cyclic abdominal pain and amenorrhoea. Menarche is usually observed two years after the start of puberty; sometimes pre-menarcheal bleeding can occur, ranging from isolated premature menarche to spotting in course of puberty. In case of imperforated hymen or vaginal anomaly, a pre-menarcheal uterine bleeding can...

Background: Following years of dietary and lifestyle intervention (DLI) as the only therapeutic option, reports of bariatric surgery are emerging in adolescents with morbid obesity. We present herein preliminary results of our 4-yr sleeve gastrectomy study.Objectives and hypotheses: To compare the effects of laparoscopic sleeve gastrectomy (LSG) and intensive DLI in adolescents with morbid obesity (ie BMI >4 DS) and extremely active weight gain (i.e....

Background: Anorexia nervosa (AN) is a primary psychiatric disease, complicated by serious endocrine disturbances. Hypogonadotropic hypogonadism with primary or secondary amenorrhea is the most common endocrine repercussion of AN, with consequent estrogen deficiency and concerns about bone mineral density. Furthermore, establishing regular menstrual cycles is considered as one of the important milestones in girls treated for AN.Aim: To quantify the estro...