ESPE Abstracts

Background: The flash glucose monitoring system (FGMS) has been a great advance in quality of life for patients diagnosed with type 1 diabetes (T1D). However, it is a more expensive method.Objectives: To describe the characteristics of the pediatric population (<18 years) diagnosed with T1D using FGMS, during one year in our community. To assess the degree of satisfaction and possible inconveniences. To evaluate the ...

Introduction: A rare cause of diabetes mellitus is Wolfram Syndrome, which arises from mutations in wolframin gene found on chromosome 4. Optic nerve atrophy, diabetes insipidus, sensorineural deafness, psychiatric problems can accompany diabetes mellitus, so it can be also named as DIDMOAD syndrome. Hypergonadotrophic hypogonadism can be rarely observed in Wolfram syndrome. A case of novel homozygous mutation in the wolframin gene has been reported because of concomitant rare...

Introduction: The most common type of diabetes in childhood is type-1 diabetes. The group of diabetes called MODY (maturity-onset diabetes of the young) is rarer. Mutations that occur in glucokinase gene cause disruption in the perception of the resultant glucose level and, consequently, impaired insulin release, leading to the development of MODY-2. In this case, resulting hyperglycemia is usually at a mild, non-progressive level and does not require insulin therapy. For this...

Background: Alström Syndrome (ALMS), occurred due to mutations in ALMS1 gene, is a rare otosomal ressesive disorder. Seven hundred cases have been reported so far. Main clinical findings are rod con dystrofy, neurosensorial deafness, obesity and type 2 diabetes. Hypogonadism, hypothyroidism, growth hormone deficiency, hipertryglyceridemia, cognitive dysfunction, cardiomyopathy, renal, hepatic and pulmoner disorders could also be seen.Objective and h...

Background: Treatment with GH of children born SGA allows an increase in growth velocity (GV) and improves adult height. Increased insulin resistance has been described in these patients, which reverts after interrupting GH administration. However, long-term metabolic consequences are not clearly established.Objective and hypotheses: Describe insulin resistance (HOMA-IR index) and auxological development (GV and height) in SGA children treated with GH fo...

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...

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

After the evident socio-health transformation when facing intersexualities / entities with different sexual development (DSD), we wonder if clinical-care assistance has improved. Material and method Descriptive multicenter study by means of a retrospective review (2006-2019) of patients with a diagnosis of DSD in pediatric age. Interdisciplinary assessment through satisfaction surveys to families / patients.Results: 67 patients were included. 27% were op...

Introduction: Hypophosphatemic rickets is usually due to genetic causes but in rare cases it can develop secondary to MAS, Fanconi syndrome, or oncogenic causes. Oncogenic osteomalacia, also called Tumor-Induced Osteomalacia (TIO), is a rare acquired paraneoplastic syndrome that develops as a result of excessive phosphate loss from renal tubules by FGF23 released from tumour tissue. In addition to the clinical features of rickets, gait disturbances, growth ret...

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis undergoes a transient activity phase during the first months of life with surging serum concentrations of reproductive hormones. Theoretically, the hormonal surge could represent a passive postnatal feedback to the withdrawal from the high sex steroid levels in pregnancy. However, we believe that minipuberty rather represents an active, tightly genetically-regulated biological process. We therefore...