ESPE Abstracts

We demonstrate significant penile growth in an infant with 17 beta HSD-deficiency treated with DHT-gel.Background: The child was born with ambiguous genitalia at full term. Investigations revealed 46,XY karyotype, testosterone and DHT levels were 2.5 nmol/L and <0.1 nmol/L respectively. No female internal genitalia were found. hCG stimulation did not result in an increase in testosterone, but a clinically obvious increase in phallus size. Subsequent ...

Background: Granulosa cell tumors (GCT) originate from sex cord/stromal tissue in the gonad. They are typically located in an ovary, but extra-gonadal localisation exists. These tumors are extremely rare in children and no systematic review has been published. The objective of this systematic review is to examine the following questions: What is the clinical picture of girls with a GCT? How are these patients treated and what is their prognosis?<p class="a...

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...

Background: There are limited data available on the efficacy and safety of GH treatment in very young (<30 months) short children, born small for gestational age (SGA).Objectives: To determine the effect of 24 months of GH treatment on body height, BMI, and head growth as well as overall psychomotor development (using the Bayley Scale of Infant Development (BSID-II)) and demonstrate its safety in young (aged between 19 and 29 months) short SGA childr...

Purpose: To track the effects of growth hormone on bone geometry and maturation in children with isolated growth hormone deficiency (GHD).Methods: 299 left hand X-rays from 77 short prepubertal children (54 boys and 23 girls) with isolated GHD were analysed for changes in metacarpal thickness, width, length, medullary diameter, the Bone Health Index (BHI) and bone age (BA) from one year preceding until four years after s...

Background: Adrenal insufficiency (AI) is a rare disorder in the paediatric population. Patients are at risk of an adrenal crisis (AC), which comprises hypotension, acute abdominal symptoms, reduced consciousness, hypoglycaemia, hyperkalaemia and hyponatremia. Immediate administration of parenteral hydrocortisone is essential to prevent AC progression but delays may occur when health attendants are unaware of the underlying AI diagnosis. Medical jewellery is a...

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

Context: Severe vitamin D deficiency may lead to myopathy in adults. Little is known about vitamin D and muscle strength in children.Objective: To test whether hand grip strength (HGS) in 5-year-old-children associates with serum 25-hydroxyvitamin D (s-25OHD) from pregnancy to 5 years.Methods: Observational study in the population-based Odense Child Cohort, Denmark. At 5 years, anthropometrics, body fat percentage by skin fold meas...

Background: Idiopathic ketotic hypoglycaemia (IKH) is an exclusion diagnosis and the most common cause of hypoglycaemia in childhood. Glycogen Storage disease (GSD) type IX comprises one quarter of all GSD’s. GSDIXa, encoded by PHKA2, is the most frequent subtype.Objective: To investigate whether IKH may be undiagnosed GSDIXa.Methods: Hospital file review and next generation sequence 29 gene GSD-panel.<p class="ab...

The neurodevelopmental consequences of neonatal hypoglycaemia are sparsely studied. We included neonates with blood glucose <1.7 mmol/L, but no severe perinatal risk factors, in a follow-up with blinded Wechsler’s Intelligence Scale for Children-IV (WISC-IV), Movement ABC-2 tests and child behaviour checklist (CBCL). Neurodevelopmental impairment was defined as psychomotor retardation, blindness, epilepsy, cerebral palsy, WISC-IV score <70, or Movement ABC-2 <...