ESPE Abstracts

Background: Gonadectomy is generally postponed until early adulthood in complete androgen insensitivity syndrome (CAIS) and close surveillance of gonads in situ proposed in males with partial AIS (PAIS). Delaying gonadectomy further is controversial given the lack of data regarding germ cell cancer (GCC) development in adulthood and the absence of biomarkers for noninvasive GCC screening.Aims and objectives: To study the prevalence of invasive G...

2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.</sma...

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the conversion of T to DHT in the classic androgen production pathway, or from 17-hydroxyprogesterone to 17OH-dihydroprogesterone, and androstenedione to androstanedione in alternate ...

Background: Obesity and metabolic syndrome related co-morbidities are increasingly recognized in children. Reproduction is an important target of obesity complications, including adverse effects on spermatogenesis and steroidogenesis in males. Adipocytokines are key players in various complications of obesity.Objective and hypotheses: The aim was to study the potential effects of adipocytokines on Sertoli cell function and possibly link the findings to t...

Introduction: Turner syndrome (TS) is a common genetic disorders with an estimated range of occuring in 25–210 per 100 000 liveborn females. In Denmark the prevalence of TS has been found to be 40 per 100 000 liveborn females. Our aim was to study the epidemiology of TS in Iceland for the period of 1968–2012.Methods: Primary source of data were hospital records and records from all pediatric endocrinologists in Iceland. To validate the data the...

Background: Hypoglycaemia precipitated by factitious insulin administration presents in a very similar way to hypoglycaemia caused by hyperinsulinism. It is difficult to ascertain clinically if the hypoglycaemia is secondary to exogenous administration or endogenous insulin secretion. Diagnosis is based on circumstantial evidence and biochemical tests which include insulin and C-peptide level.Objective and hypotheses: We would like to report a case of a ...

Background: 14½ year old girl presented with increased skin pigmentation, weakness of limbs and walking difficulty and delayed puberty.Objective and hypotheses: To evaluate the girl for the aetiology of hyperpigmentation, neuromuscular weakness and delayed development of secondary sexual characters.Method: The girl was evaluated by neurologist and found to have development delay, sensory and motor neuropathy, ataxia, amyotroph...

We recently assessed systolic heart function in children from IUGR and normal control pregnancies and reported early developmental impairment of left ventricular longitudinal strain – a sensitive echocardiographic measure – during the first 3 months of life in IUGR children. In accordance with previous studies, this suggest that the increased cardiovascular risk later in life imposed by IUGR/SGA may, at least to some extent, be primary and not entirely secondary to...

Steroidogenic enzyme expression in the fetal adrenal and the placenta hints at the production and metabolism of adrenal-derived 11-oxy androgens (11OxyAs) in the fetal-placental unit. Thus, 11OxyAs are present in placental tissue, fetal cord blood and neonatal serum, and could have a particular role during fetal development. The metabolism of the 11OxyAs in the fetal unit, therefore, presents as a focal point of investigation. Adrenal androgens are primarily metabolized by the...

Background: Abdominal fat distributions are reportedly strongly associated with metabolic risks in type 2 diabetes mellitus. However, research on fat distribution in adolescents with type 2 diabetes mellitus has been limited.Aim: To investigate fat distribution characteristics in adolescents with type 2 diabetes mellitus for comparison to those with simple obesity in Japan.Design/Methods</s...