ESPE Abstracts

SOX3 is located on the X-chromosome (Xq27.1) and encodes a SRY-related protein that acts as a developmental transcription factor. Copy Number Variations (losses and gains), mutations of polyalanine stretches (deletions or expansions) and missense mutations of SOX3 have been associated with growth hormone deficiency with incomplete penetrance, hypogonadism, differences of sexual development and variable additional endocrine disorders (MIM #312000 and #300123)....

Background: Bi-allelic mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH). Non-classical CAH (NCCAH) or even just hyperandrogenism may be caused by mild or mono-allelic (single) heterozygous mutations of CYP21A2. These mutations are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood.Objective and hypotheses: The objective of this study wa...

Background: Steroid responsive encephalopathy with autoimmune thyroiditis (SREAT) is a clinically and electrographically heterogeneous steroid-responsive encephalopathy associated with thyroid autoantibodies.Objective and hypotheses: To investigate, whether children and adolescents with Hashimoto’s Thyroiditis (HT) lacking acute clinical manifestation of SREAT show electroencephalogram (EEG) alterations, and to compare EEGs of HT patients with those...

Background: A quarter of young adults with cystic fibrosis (CF) may have osteoporosis. However, children with CF do not seem to have an increased risk of fractures.Objective: We aimed to examine the factors that may determine longitudinal changes in bone mineralisation in children with CF.Method: 101 children (51 females) had DXA performed and the data were expressed as expected bone mineral content for bone area SDS (BMCSDS). Of t...

Background: Vertebral fractures (VF) are recognised as an important aspect of bone health in children and adolescents, yet most of them are not clinically apparent. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) for vertebral morphometry has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers in 110 patients (52M/58F) as part of ...

Background: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Method: Markers of bone metabolism were evaluated in 15 children (9M/6F) undergoing BPT for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX), alkaline phosphatase (AL...

Background: There is growing concern about the impact of eating disorders on the bone heath during adolescence where peak bone mass acquisition is of paramount importance.Method: A total of 85 patients (77F/8M, 75% anorexia nervosa(AN) and 25% atypical eating disorder), median age 15.2 years (range, 10.9–19.8) and median BMI SDS −1.3 (−4.7 to 0.8) attended the bone densitometry service between Jan 2009 and Dec 2013 for total body (TB) an...

Background: The actual Swedish growth references are based on a cohort born 1974.Objective and hypotheses: Due to secular changes there is need for new height references.Method: Material: Height measurements from birth to adult height (AH) in a cohort of healthy, Nordic and born full term 1990, 20.796 from 1647 boys, 19.202 from 1501 girls were used (ALL) and compared to both a subgroup with puberty close to mean (PHV &#17...

Background: In children undergoing investigation of testicular function the relationship between serum anti-Mullerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Method: 75 children (3F, 72M) with a median age of 1.08 years (range, 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an additional prolonged HST. Normal te...

Background: Childhood cancer survivors (CCS) are at increased risk of endocrinopathies; as a consequence of cranial/craniospinal radiotherapy and alkylating agents. Hypothalamic-pituitary dysfunction, thyroid dysfunction and gonadal failure are frequently seen.Aim: To explore the endocrine monitoring following completion of treatment for central nervous system (CNS) tumours within a regional paediatric oncology service.<...