ESPE Abstracts

Background: Human scalp hair is a valuable matrix for determining long-term cortisol concentrations, with wide-spread applicability in clinical care as well as research. However, pediatric reference intervals are lacking.The aim of this study is to establish age-adjusted reference intervals for hair cortisol in children aged 0-18 years and to gain insight into hair-growth velocity in children up to 2 years old.Methods: A...

The most common genetic abnormality found among men is the presence of an additional X-chromosome which causes Klinefelter syndrome (KS). KS has an estimated prevalence of 1.5/1000, but only ~40% receive the diagnosis, probably because the phenotype varies considerably. Men with KS often show eunuchoid body proportions, cognitive and psycho-social difficulties, and have an increased risk of developing cardiometabolic diseases. But the most persistent symptoms are small testes,...

Background: Thyroid hormones act via receptors (TRα; TRβ) encoded by separate genes (THRA, THRB). Mutations in THRA are a recently-recognised cause of Resistance to Thyroid Hormone alpha (RTHα), a disorder with tissue-specific hypothyroidism but near-normal thyroid function tests.Aim: We describe the youngest recorded case of RTHa, in a 2yr old boy with disproportionate short stature, ...

Background: Resistance to thyroid hormone beta (THRβ) is a clinical spectrum which varies in presentation even between individuals with the same mutation. Life-threatening cardiac dysfunction is recognized in homozygous THRβ state but never reported in cases of inherited heterozygous THRβ defects.Aim: We report the first case of familial inherited heterozygous (THRB) beta mutation presenting with ...

Background: Graves’ Disease (GD) is the most common cause of hyperthyroidism in children and develops because of stimulation of the thyroid gland by TSH receptor auto-antibodies (TSHR Ab). An increased risk of obesity has been described in both adults and children following initiation of anti-thyroid drug (ATD) therapy but the longer term impact of GD and it’s treatment on physique in children is unclear.Aims:</strong...

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

22-month girl presented with 3 days of cough and fevers, 2 weeks of rhinorrhoea and frequent “clearing of throat” and 6 months of diaphoresis and growth spurt. On examination, she was flushed and diaphoretic with a large goitre. She had a low grade fever (T=37.9) with signs of cardiac compromise (bounding pulse sinus tachycardia [HR=200bpm]. She was hypertensive [BP=145/90mmHg] and tachypnoeic [RR=36/min] with respiratory distress and right-sided crepitations. She ha...

Background: Initiation and progression of puberty requires concerted action of activating and inhibiting factors. Recently, cases of central precocious puberty have been linked to loss-of-function mutations of makorin RING-finger protein 3 (MKRN3) indicating a pivotal inhibitory role of MKRN3 on GnRH secretion.Objective and hypotheses: To investigate peripubertal circulating MKRN3 levels in healthy boys.Method: Healthy boys (n<...

Background: Anti-Müllerian hormone (AMH) is produced by small growing ovarian follicles. It inhibits both FSH induced maturation of follicles as well as aromatase activity. Genetic variation of AMH signalling is associated with age at menopause and circulating oestradiol levels, i.e. AMH rs10407022 T>G (intragenic) and AMHR2 rs11170547 C>T (putative enhancer).Objective and hypotheses: This present study aims to investigate ...

Context: Transient thelarche (TT) corresponds to the appearance, regression and subsequent reappearance of the breast bud in girls. Only a single study about its frequency and progression is available (Lindhardt Johansen JCEM 2017).Objective and Hypotheses: To determine whether girls with TT girls (group 1) compared to girls without TT (group 2) show differences in i) timing/sequence of pubertal events ii) pattern of rep...