ESPE Abstracts

Introduction: Pediatric adrenocortical tumors (pACT), comprising highly malignant pediatric adrenocortical carcinomas (pACCs) and less aggressive adenomas (pACAs), present a rare yet clinically significant challenge. pACTs often pose a diagnostic and therapeutic dilemma due to their elusive differentiation and resistance to therapy. Originating from the adrenal cortex, pACTs are functional and, thus, characterized by a unique urinary steroid metabolome. This s...

Background: Recently we demonstrated that male adolescents with severe GHD (sGHD) had a significant decrease of lean body mass and increase in fat mass after stop of GH-therapy. The functional consequence of this observation is unknown.Objective and hypotheses: The aim was to study the changes in parameters of jumping mechanography in adolescents with GHD in the transition period (end of growth) after stop of GH-therapy.Patients an...

Background: Silver-Russell syndrome (SRS) is reported to be associated with early adrenarche, but substantial studies are lacking.Objective and hypotheses: We aimed to determine the median age at onset of adrenarche, the prevalence of premature adrenarche as well as its causes and consequences.Method: Currently we have collected longitudinal data from 40 children with SRS seen during the last 20 years in our centre. The patients fu...

Background: Determining fat mass (FM) using methods of body composition analysis is useful in diagnosis and treatment of obese adolescents who undergo life style intervention. The use of dual-energy X-ray absorption (DXA) is time-consuming, potentially harmful and expensive. Alternative methods for accurately estimating FM are needed.Objective and hypotheses: We evaluated single-frequency arm-to-leg bioelectrical impedance analysis at 50 kHz (sf-BIA) in ...

Background: Male adolescents with severe GH deficiency show both loss of lean body mass (LBM) and gain of fat free mass (FFM) when off GH treatment. We recently showed that determining gain of FFM and loss of LBM by dual-energy x-ray absorption (DXA) is helpful in the diagnosis of severe GHD during transition as these body composition changes are correlated to the GH-peak of the arginine-GHRH-re-test.Objective and hypotheses: We wanted to explore if the ...

Background: A small subgroup of children with isolated growth hormone deficiency (IGHD) develop central hypothyroidism (CH) during GH treatment. Prognostic parameters are still unclear.Objective and hypothesis: Long-term evaluation of children with initial diagnosis of IGHD to identify those with an unmasking CH under GH treatment. IGHD was diagnosed in children with short stature, low height velocity, retarded bone age,...

Spontaneous pregnancies are rare in women with Turner syndrome (5.6-13%) and are often associated with a mild phenotype (late diagnosis), a normal cell lineage within a mosaic karyotype and normal pubertal maturation. Proposed biomarkers to predict fertility are AMH and ovarian histology, but none are certain. We report on an 18-year-old teenager who became pregnant despite having protected sexual intercourse (condom). At the age of 15.5 years, she was diagnosed with Turner sy...

Background: Patients with hyperinsulinism (HI) and anterior hypopituitarism often present in the new-born period (NBP). However up to 30% patients with HI and an unknown number with hypo-pit will present in the first year of life. Despite advances in care the long-term neurological outcome for patients with HI is poor in 20-40% cases.Aim: To retrospectively evaluate the care given during the NBP in a series of patients diagnosed with late presenting pote...

Background: Restarting rhGH treatment in adolescents with childhood-onset GH deficiency (CO-GHD) is usually based on the GH re-test, IGF-1, additional pituitary hormone deficiencies and pituitary gland morphology, but not on body composition. Short-term changes of body composition in adolescents with CO-GHD when off rhGH may contribute to the identification of those in need of continuation of treatment.Study design: In this prospective single-centre stud...

Background: Recently we described a family with several members having intrauterine and postnatal growth failure as well as signs of Silver–Russell syndrome (SRS) who carried a heterozygote nonsense mutation of IGF2. The patients had low IGF-II serum levels, but normal IGF-I serum levels.Objective and hypotheses: We aimed to estimate the diagnostic value of the IGF-II, IGF-I and IGFBP-3 measurements in the assessment of children with SRS.<p clas...