ESPE Abstracts

Background: Face processing is considered the most highly developed visual perception ability, with research indicating differences between genders. Gender incongruence (GI) refers to person’s experience of an incompatibility between gender identity and birth-assigned sex. Differences of sex development (DSD) encompass rare congenital conditions, in which chromosomal, gonadal or phenotypic development is atypical. The study aimed to investigate face proc...

Hypoplastic left heart syndrome (HLHS) is one of the most severe congenital heart defects. Despite medical progress, HLHS patients remain at risk of many complications of this cardiac defect and cardiac surgery, including growth failure. Some of them can be treated with recombinant human growth hormone (rhGH) fulfilling criteria of GH–deficiency (GHD) or having a history of intrauterine growth restriction or small for gestational age (SGA). We assessed the effectiveness ...

Background: Primary hypogonadism in females is characterized by inadequate ovarian function, resulting in insufficient or absent production of estrogens. This case report aims to present a rare case of primary amenorrhea in a female child where bone marrow transplantation (BMT) was performed due to the beta-thalassemia.Case presentation: A 14-year-old girl approached the endocrinology department for evaluation due to del...

Background: Chronic autoimmune thyroiditis (AT) is a leading cause for acquired primary hypothyroidism in children. The prevalence of the AT in pediatric age is lower than in adults - approximately 2%. Familial predisposition is well established, however exact pathophysiologic mechanism is still not known. Since the first signs of Hashimoto thyroiditis are nonspecific and challenging to recognize, also the disease is not associated with pediatric age, the diag...

Aim: Few data are currently available on the reliability of the different anthropometric, instrumental and biochemical indexes in recognizing the presence of the metabolic syndrome (MetS) in severe childhood obesity. The objective of our study was to find out a simple and accurate index to use in deciding whether to initiate a search for MetS in this at-risk population.Patients and Methods: A retrospective study based on...

Introduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth ...

Introduction: McCune Albright Syndrome (MAS) is a rare disorder caused by somatic activating mutations of the GNAS gene, characterized by monostotic/polyostotic fibrous dysplasia, café au lait skin pigmentation and hyperfunctioning endocrinopathies. We report a case of MAS presenting with mild phenotypic characteristics and central precocious puberty (CPP).Case: Indian female was referred to our clinic fo...

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...

Objective: There is no agreement about which index of adiposity and/or body composition is the most accurate in identifying the metabolic syndrome (METS). The aim of our study was to compare the accuracy of the different indexes in order to recognize the most reliable.Study Design: We evaluated 1332 obese children and adolescents (778 females and 554 males), aged 14.4 ± 1.8 yrs., Body Mass Index (BMI) standard devia...

Clinical history and symptoms: XX, 9.37 years, was referred to our Clinic for obesity and psycho-motor delay. Family history: Fibromyalgic mother, two maternal cousins with psycho-motor delay, paternal uncle with epilepsy and intellectual disability. Born at term from caesarean section for placental detachment after physiological pregnancy (birth weight g 1900, SGA). In the first years of life she had psychomotor retardation, episodes of affective spasms, nocturnal enuresis, a...