ESPE Abstracts

Introduction: Physical activity (PA) is one of the treatments to promote weight loss in children with obesity. The WHO advices to perform moderate to vigorous (MV) PA during 60-min daily. It is necessary to measure the effect of increasing PA and the adherence to therapy.Aims: To evaluate PA using accelerometry at the onset and after 8 weeks of treatment with nutritional intervention and increase in PA.Patients, material and method...

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

Background: AuxoLog is a validated computer program that evaluates auxologic parameters comparing them with the Spanish growth charts. It also allocates subjects to the corresponding pubertal development group.Objective: To assess the evolution of auxological parameters in GH deficient (GHD) pre pubertal children treated with Omnitrope for a minimum of 2 years prior to puberty.Method: This study is non-interventional, retrospective...

Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). The penetrance of these mutations remains to be established. To date, all reported individuals with MKRN3 mutations were already in puberty or postpubertal and were identified retrospectively.Objective and hypotheses: To report the first case of a prepubertal child with an MKRN3 muta...

Background: Thyroid function in preterm infants is often altered for various reasons. LBW or VLBW newborns frequently present a particular form of congenital hypothyroidism (CH) characterized by low FT4 and delayed TSH elevation. The incidence of this disease is 1:250 for VLBW babies and 1:1589 for LBW newborns. In this condition, neonatal screening based solely on TSH can miss the diagnosis, therefore some screening programs have proposed to repeat the screening te...

Background: Androgen insensitivity syndrome in its complete form (CAIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriated normal concentrations of androgens. Pathogenesis is the result of mutations in the x-linked androgen receptor (AR) gene, which encodes for the ligand-activated AR. We report the clinical, biochemical and molecular features of two affected sisters in whom a nove...

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism, and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using whole-exome sequencing (WES)....

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

Six-year-old female, diagnosed with GH deficiency at another Center (H: -3.13SDS; H peak with clonidine 5.7ng/mL, with insulin 1.2ng/mL). Brain MRI at diagnosis: small pituitary gland, ectopic neurohypophysis, normal stalk, right internal carotid artery aplasia. At 10 years onset of polyuria-polydipsia syndrome (PPS) (4L/day–154ml/kg/die); mood disorders and ADHD diagnosis were also reported. A fluid deprivation test was performed, lasting 22 hours (pre: S-Osm 275mOsm/L,...

Although craniopharyngiomas are low-grade tumours, long-term survivors frequently suffer from severe morbidity due to hypothalamic lesions, such as hypothalamic obesity, that is largely resistant to lifestyle modification and pharmacotherapy. We investigated the efficacy of bariatric surgery in two patients with craniopharyngioma-related hypothalamic obesity during 18 months of follow-up. Patient n1, diagnosed with craniopharyngioma and treated with complete surgical excision ...