ESPE Abstracts

Background: Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40–70%), the search for genetic variants contributing to susceptibility has been a challenging task. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these variants do not fully explain the heritability of obesity, other forms of va...

Introduction: In virilized females with Congenital Adrenal Hyperplasia (CAH), the principal aims of surgery are to reduce the size of clitoris, create a vaginal orifice that will allow menstrual flow and intercourse, and to correct the urogenital sinus to prevent incontinence.Surgical techniques evolved with time to make not only "cosmetically accepted" genitalia but also normally functioning. The complications of feminizing geni...

Type 1 diabetes mellitus (T1DM) may be associated with reduced bone mineral density (BMD). Possible pathogenic mechanisms include impaired bone anabolic effect due to decreased insulin and insulin-like growth factor 1 (IGF-I). In addition, hyperglycemia can impair osteoblast function.We measured anthropometric data, glycemic control (HbA1C), insulin dose /kg, calcium, PO4 and alkaline phosphatase and BMD by (DEXA scan at the spine (L2–L4) and at the...

Introduction: Autism spectrum disorder (ASD) consists of a pattern of persistent deficits in social communication and interaction across multiple contexts together with restricted, repetitive patterns of behavior, interests or activities. In the general population autistic traits can be found more frequently in males than females. This male predominance indicates that high androgen levels may prenatally have influence on development of autistic traits.<p c...

Introduction: Robinow syndrome is a rare genetic disorder characterized by mesomelic dwarfism, characteristic facial features, skeletal abnormalities and external genital abnormalities. Genital abnormalities may be noted in these patients and may cause confusion in gender assignment. In males, the characteristic pattern is micropenis with or without cryptorchidism, webbed penis or hypoplastic scrotum. In females, the anatomical defect is not always evident.The...

Background: Type 1 diabetes (T1DM) is a chronic disease with many chronic complications as nephropathy, retinopathy and neuropathy or macrovascular complications as coronary artery disease and peripheral vascular disease due to the effects of hyperglycemia and dyslipidemia on vascular endothelial function. Moreover, in patients with T1DM, hypertension (HTN) is a significant contributor to the development of both micro- and macrovascular complications.<p cl...

Introduction: Congenital Adrenal Hyperplasia (CAH) is the commonest cause of Disorder of Sex development (DSD). It is a group of autosomal recessive disorders caused by deficiency of enzymes involved in synthesis of cortisol, aldosterone or both. The combination of hypocortisolism, hyperandrogenism and adrenal medullary hypofunction due to the disease and side effects of steroids treatment may make these individuals more prone to develop cardiovascular disorders including impa...

Introduction: Nephrotic syndrome (NS) is one of the most frequent glomerular pathological conditions seen in children. The International Study of Kidney Disease in Childhood (ISKDC) reported that 84.5% of children with idiopathic nephrotic syndrome (INS) had minimal-change nephrotic syndrome (MCNS). Complications of INS may arise as a result of the disease itself or secondary to treatment. The chief complications of NS are infection, followed by thromboembolic events. Other di...

Background: Ectodermal dysplasia is considered as an inherited multi-systemic disorder affecting tissues derived from ectoderm (skin, hair, teeth, nails and sweat glands). There are many genes involved in genetic background of this disorder with variable modes of inheritance. The thrombospondin-type laminin G domain and epilepsy- associated repeats (TSPEAR) gene have been found in some patients with this disorder with interesting variable phenotypic spectrum. ...

Introduction: Epilepsy or seizures are often observed in patients with diabetes mellitus (DM). Different types of seizures occur in approximately 25% of patients with DM. The exact cause remains undetermined. Moreover, a possible association between T1DM and epilepsy exists. Risk factors for epilepsy in T1DM include younger age at onset, recurrent hypoglycemia or DKA, and poor glycemic control.Aim of the work: The aim of...