ESPE Abstracts

Purpose: Anorexia nervosa (AN) increases the risk of impaired bone health, low areal bone mineral density (aBMD), and subsequent fractures. This study investigated the long-term effects on bone and biomarkers in young women with AN.Methods: Twenty-five Swedish female AN patients, median age 21.0 years (16.1 to 24.3 years), median BMI 15.4 kg/m2, were included, 22 patients completed a high-energy in-patient treatment for ...

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...

Background: The COVID-19 pandemic has had wide effects on child health globally. Increased prevalence of childhood obesity has been observed during the pandemic. The absence of a formal societal lockdown during the pandemic, made Sweden stand out compared to other countries. Several studies have shown increases in obesity in children during the COVID-19 pandemic. These studies mainly focused on school age children and adolescents in countries that underwent pe...

Background: Pediatric patients with germline pathogenic variants in the tumor suppressor gene PTEN frequently develop cancer and adipose tissue overgrowth in the form of lipomas. While the canonical function of the phosphatase PTEN is to antagonize the growth promoting PI3K pathway, non-canonical PTEN functions e.g. in the nucleus are less well described. To uncover the mechanisms leading to lipoma formation related to PTEN mutations, we previously performed R...

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...

Context: Pituitary apoplexy is rare endocrine emergency, resulting from ischemia and/or hemorrhage and necrosis of a pituitary tumor (typically an adenoma). Children and adolescents show severe headache sometimes associated with cranial neuropathies from compression of the optic chiasm or the cavernous sinus.Case presentation: A 15-year-old boy was admitted with severe headache and vomiting since 3 days, without visual d...

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

Background: Determination of the gonads in men is closely dependent on Sertoli cells differentiation and maturation. Many cases of differences of sex development (DSD) are caused by variations in these processes. The study of the mechanisms underlying these complex conditions is crucial for optimal clinical management and Sertoli cells would be an ideal model for this purpose. Our human Sertoli-like cell model (SLCs) may shed some light on the identification o...