ESPE Abstracts

A 4.9-year-old girl presented with a 6-month history of excessive body odour and suspected breast development. Family history was significant for presence of Lynch syndrome in both her father and paternal grandmother. At presentation, she was pre-pubertal but tall for her age. Her height was 124 cm (SDS 3.5), and weight was 27.1 kg (SDS 2.69). Her height velocity was accelerated at 15 cm/year and bone age was advanced at 7 years. Investigations revealed an elevated IGF-1 (500 ...

Introduction: Adolescent polycystic ovary syndrome (PCOS) is characterized by androgen excess and oligo-amenorrhea, and often results from ectopic lipid storage due to a mismatch between early adipogenesis and later lipogenesis. Endogenous HOTAIR and exogenous pioglitazone are enhancers of subcutaneous adipogenesis, particularly in the gluteofemoral region. The A allele of HOTAIR rs1443512 is an equivalent of a natural knock-down and is thus a candidate to inf...

Abstract: The SARS-CoV-2 virus uses ACE2 combined with the transmembrane-protease TMPRSS2 to enter and infect thyroid follicular cells. Studies have reported a higher incidence of hyperthyroidism cases during the COVID-19 pandemic compared to pre-pandemic periods. Studies have also been reported cases of thyroid dysfunction early after mass covid vaccinations. However, there are insufficient data to confirm these associations in children.<p class="abstext"...

Objective: Despite published guidelines, there is no single approach to management in congenital adrenal hyperplasia (CAH). The objective of the study was to explore the variations in treatment for CAH in Spain.Material and methods: A retrospective study in a single center was done analyzing the data provided by patients and relatives through the Spanish Association of CAH from a online survey of 25 questions. It was dif...

Introduction: Type 1 Diabetes Mellitus (DM1) is an autoimmune disease resulting from the destruction of pancreatic β cells. After the diagnosis, up to 80% of patients spontaneously experience partial remission (PR) for months. New biomarkers are being studied, such as the betatrophin protein (ANGPTL8) of unknown function, but which could be involved in the evolution of DM1, in this phase of RP and even used as a therapeutic target.Methods: Observati...

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...

Background: The SRY protein is a transcription factor that contains a high mobility group (HMG) homeobox domain which possesses sequence-specific DNA binding activity and regulates other genes involved in male sex determination pathway. The majority of the identified mutations occurred within the HMG-box motif. There are few reports of pedigrees with familial transmission.Objective and Hypotheses: To describe a paternally transmitted novel SRY mutation w...

The obesity epidemic continues to be a dramatic problem in the developed world despite attempts to curtail its rise. Reducing energy intake and/or increasing energy expenditure can result in weight loss; however, if one returns to their poor lifestyle habits the previous weight is not only recuperated, but often surpassed.We hypothesized that although a normal body weight may be achieved, the hypothalamic circuits controlling appetite and energy expendit...

Background: Central adrenal insufficiency(CAI) is a potential life-threatening condition and a prompt diagnosis represents a clinical challenge; indeed, the Insulin Tolerance Test(ITT), gold standard for CAI diagnosis, can be contraindicated in some conditions. Aims were to evaluate the diagnostic value of the ACTH low test(ACTH-LT) compared to the ITT and to identify eventual determinants(primary diagnosis, risk factors, symptoms, baseline cortisol, hypothala...