ESPE Abstracts

Background: The molecular genetics of isolated hypogonadotropic hypogonadism (IHH) has been a subject of interest and recent discoveries. Multiple genetic variants with x-linked and autosomal inheritance are involved in the regulation of the hypothalamic pituitary gonadal axis.Objective and hypotheses: We undertook an extensive genetic evaluation to elucidate a possible genetic aetiology in two brothers with clinical and biochemical evidence of IHH. We h...

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...

Introduction: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. Impaired cognition has been reported in patients with CAH, although the findings have been conflicting. It has been hypothesized that the major causes of the deficits are prenatal hormonal imbalances and/or excessive glucocorticoid treatment.Objective: The objective of this study was to investigate cognitive function in chi...

Introduction: Van Wyk-Grumbach Syndrome (VWGS) is a constellation of symptoms including precocious puberty without adrenarche, delayed bone age, ovarian cysts, and hypothyroidism.Case report: We report here a five-year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding, and abdominal distention. Her HtSDS =-1.3 and BMI SDS =1.5. A large abdominal mass was palpable. She had no breast development or pubic hair. Her Inv...

Introduction: The term hybrid diabetes (HD) describes a form of diabetes in which hyperglycemia occurs in obese children in the presence of positive autoimmunity against the beta cells. Few data are available about the clinical presentation and the course of disease in children with this form of diabetes.Aim: We describe the clinical characteristics and response to treatment in 7 children with hybrid diabetes.<p clas...

Introduction: Growth hormone (GH) increases lean body mass and reduces fat mass. However, the long-term changes in weight status during growth hormone treatment, according to age and weight status at the onset of treatment, have not previously been reported in large data sets.Aim: To identify the growth response to GH therapy in underweight versus normal weight short children.Patients and Methods: ...

Introduction: Early and fast puberty (EFP) in girls, defined as pubertal onset at age 8-9 yr., with an accelerated course, may cause compromised final adult height (FAHt). Treatment with a gonadotropin-suppressive agent is still controversial because the improvement in FAHt is equivocal and there may be a risk of overweight.Aim of the study: We analyzed the data of 24 girls with EFP treated with GnRH analog (GnRH) since Tanner stage 2-3,...

Introduction: Hyperprolactinemia (HPrl) secondary to macroadenoma is a rare endocrinopathy in childhood but represents one of the most frequent forms of pituitary adenoma.Case report: A 12yr old girl was referred for assessment of progressive weight gain in the last 1.5 years. Despite trials of weight control by changing the dietary habit and daily exercise weight her BMI SDS increased from 1.2 to 2.2. This was associated with progressiv...

Background: Studies in animal models and humans with type 1 diabetes mellitus (T1DM) have shown that probiotic supplementation leads to decreased proinflammatory cytokines (responsible for damaging β-cells of the pancreas), improved gut barrier function, and induction of immune tolerance.Objective: To study the effect of supplementation of probiotics in children with T1DM on glycemic control, insulin total daily dos...

Introduction: Congenital adrenal hyperplasia (CAH) is a lifelong condition associated with long term medical and psychosocial issues, which can adversely affect Quality of Life (QoL). There is paucity of high-grade evidence on health-related QoL in children and adolescents with CAH, with available studies being limited by small study samples. We conducted a systematic-review(SR) and meta-analysis(MA) to assess factors associated with health-related QoL among c...