Endocrine Abstracts

Case history: A fifteen year old female was seen in general paediatric clinic after multiple GP attendances based upon persistent maternal concerns for short stature (height below 0.4th centile). She was otherwise healthy, had achieved menarche at age 14, and had no dysmorphic features. She had been reviewed by endocrinology age ten and discharged with a diagnosis of familial short stature. Her mother’s height was on the 0.4th centile and her father’s on the 75th, re...

Case History: We present a 3-week-old baby who presented to a District General Hospital with prolonged unconjugated hyperbilirubinaemia and evolving developmental delay.Investigations: Initial thyroid function demonstrated a TSH at 2.41 mIU/l (0.8-5.4), free T3 at 7.39 pmol/l (3.40–7.60) and free T4 at 9.9 pmol/l (11.0–23.6). The TFT was repeated using an alternative assay with FT4 at 11.8 pmol/l (11.5–28.3), FT3 at 9.20 pmol/l (3.00–...

Introduction: Iodine deficiency in Western countries is considered a historic disease. In 1924 up to 30% of school aged children in the UK had a goitre. The UK however remains one of the most iodine deplete countries in the world. Those following restricted diets are also at particular risk of iodine deficiency.Case Report: A nine year old female on a significantly restricted diet due to multiple food allergies presented with a goitre. Ultrasound scan co...

Introduction: Dyshormonogenesis accounts for approximately 10–15% of cases of congenital hypothyroidism. Although relatively uncommon, the presence of a neonatal goitre should raise suspicion of thyroid dyshormonogenesis. Advances in genomic sequencing have identified errors at all stages of the thyroid hormone synthesis pathway. We present a case of a fetal goitre with the infant subsequently being diagnosed with dyhormonogenesis secondary to two separate thyroglobulin g...

Introduction: Cushing’s disease (CD) is a very rare cause of obesity in children. Typical features seen in adults with CD may be absent and clinical investigations may not give a definitive diagnosis. We present a case of CD, highlighting the challenges of diagnosis and the dilemmas encountered in managing such patients.Case report: A ten-year-old girl was referred with a five-year history of weight gain. At presentation BMI was +3.66 SD and she had...

Background: Haploinsufficiency of the GATA3 gene located on chromosome 10p15, is well-recognised as the cause of hypoparathyroidism, sensorineural deafness and renal dysgenesis; the HDR syndrome. A number of abnormalities within the GATA3 gene have been identified, with varying phenotypic characteristics. GATA3 is associated with other abnormalities including, abnormalities of Mullerian structures, hypomagnesia, hemimegalenencephaly and diabetes mell...

Introduction: Patients presenting with isodicentric chromosome Y (idicY) formation in a mosaic karyotype can present with phenotypic features ranging from mixed gonadal dysgenesis, to females with stigmata of Turner’s syndrome. The presence of the SRY gene increases the risk of germ-cell tumours.Case report: A 12-year-old prepubertal girl was referred for evaluation of extreme short stature (height 122 cm; −4.58 SDS; weight 26.7 kg; a...

Background: Obese children are at greater risk of fracture. However, previous evidence suggests that obese children with a mutation in the melanocortin-4 receptor (MC4R) have a high age-adjusted bone mass. MC4R deficiency is associated with increased linear growth, so bone mass may be over-estimated due to patients being taller. We therefore aimed to compare body size-adjusted bone mass of lean and obese pre-pubertal children with those who have a mutation in MC4R.<p class...

Background: Transition is an important stage in the care of a young person with a long-term endocrine condition.Objective: To explore current services for young people (YP) with endocrine conditions from the perspective of paediatric and adult endocrinologists, and YP and their parents using their services.Methods: There were two components:- i). service questionnaire for completion by paediatric and adult endocrinologists ii). &#1...

Background: Bone mass is low and fracture risk is higher in obese children. We wished to ascertain the relationships of obesity-related changes in hormones with skeletal microstructure.Method: Children aged 8–15 years matched by gender and pubertal stage were recruited into lean and obese groups (18 pairs). We used high resolution peripheral quantitative computed tomography (HRpQCT – resolution-82 μm) to assess three-dimensional cortical a...