ESPE Abstracts

Background: Anti-Müllerian hormone (AMH) inhibits the in utero growth of the Müllerian structures in female fetuses. In neonates with suspected disorders of sexual development (DSDs), the presence of testicular tissues and functioning Sertoli cells can be investigated by testing for serum AMH concentration.Objective: To evaluate the performance of two new AMH assays in a hospital laboratory.Method: The technical performan...

Introduction: In 2009/2010 Hospital Virgen del Rocío, Seville, Spain changed the treatment of patients with GH deficiency (GHD) from various original recombinant human GH (rhGH) to a biosimilar rhGh (Omnitrope®, Sandoz).Objective: To evaluate the consequences on growth parameters of switching treatment, from original rhGHs to Omnitrope® in children with GHD, in a window period of 36 months.Metho...

Background: Mauriac Syndrome (MS) is currently an extremely rare complication in type 1 diabetes mellitus (DM1). It is characterized by the triad: poor metabolic control, dwarfism and hepatomegaly. Other findings are elevated transaminases, dyslipidemia, cushingoid features and delayed puberty.Case: Male patient with DM1 since 5 years age. Coinciding with a family breakdown, from the age of 7 his metabolic control deteriorated significan...

Introduction: Obesity is the most common nutritional disorder in the paediatric age. Decreased physical activity and increased inactivity are important factors that are involved in this pandemic. The highest prevalence of obesity in Europe is in the South.Objective: To study the relationship between the practice of a regulated sport and lipid profile in overweight children and adolescents.Material and methods: 318 overweight childr...

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

Background: Prader–Willi syndrome (PWS) results from loss of paternally imprinted genes from the 15q11–13 region and causes hypotonia with weight faltering in infancy, followed later by obesity which is classically attributed to hyperphagia.Objective and hypotheses: To determine, where possible, the age at onset of unwanted weight gain (as opposed to actual obesity) in children with PWS attending a specialist clinic.Metho...

Introduction: Metabolic control (MC) of patients with type 1 diabetes (DM1) is linked with complications in short and long term follow up. Adolescence is a critical period in the treatment of DM1, making it difficult to achieve good MC. Few studies, all conducted in the United States, have shown an association between mother´s depressive symptoms with poorer MC of their adolescent.Objective: To evaluate the associat...

Introduction: Non-classical congenital adrenal hyperplasia is the most common pathological cause of early pubarche in prepubertal patients. However, this may also be the first manifestation of central precocious puberty or an androgen producing suprarrenal or ovarian tumor.Objective: To present a clinical case initially misdiagnosed as Congenital Adrenal Hyperplasia that turned out to be an Ovarian Tumor of Leydig Cells.Clinical ca...

Background: Fetal growth is partly regulated by epigenetic factors, such as DNA methylation. Altered methylation status in placental genes relates to gestational diabetes, preeclampsia and prematurity. However, the epigenetic mechanisms underlying fetal growth restraint in uncomplicated pregnancies remain unknown.Objective and hypotheses: We aimed at identifying new candidate genes related to fetal growth, by assessing DNA methylation profiling in placen...

Background: 17α-Hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1, characterized by reduction of androgens, estrogens and cortisol production and mineralocorticoid excess.Objective and hypotheses: To describe the clinical and molecular characteristics of two sisters with 17α-hydroxylase/17, 20-lyase deficiency.Method: Two sisters, phenotypic females...