Endocrine Abstracts

Introduction: The Paediatric Oncology Late Effects Clinic in Leicester was established in 1999, in order to monitor cancer survivors for the development of secondary co-morbidity, including that relating to endocrinopathy from treatment for the underlying oncological diseases.Aim: As a retrospective audit of our clinical service against the current existing guidelines (UKCSSG, SIGN), specifically to monitor the endocrine standards with respect to axiolog...

Introduction: The IGF1-receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (bands q26.3). Short stature due to mutation or deletion of IGF1R gene is rare. Mutation of this gene is better known compared to deletion as a cause of growth hormone resistance. We report a girl with pre and postnatal growth failure with chromosome 15q deletion and 16q duplication.Case report: Our patient was born at term weighing 2.7 kg (2nd centile). She w...

Testicular tumours are uncommon causes of precocious puberty (10%). The majority are Leydig cell tumours and require surgical removal plus chemotherapy. We present an 8 years (8.04 years) old male child who presented with rapid onset of pubic hair growth and right testicular swelling. Examination: his height was (143.3 cm, just above 99.6 th centile), weight (32.3 kg, 91st centile). Pubertal staging at A1, P2, G 4. Left testis 2 ml/right 8 ml. Bloods taken showed prepubertal L...

We present 2 cousin brother and sister, MK and AK (family tree attached in Fig) who presented with a common pattern of hyponatremia with hyperkalemia, hypomagnesaemia, salt wasting, hyperaldosterinism and hyper-reninaemia in their neonatal life with polyuria. A diagnosis of pseudohypoaldosteronism was made and they were commenced on sodium supplements and indomethacin.The shaded boxes are in utero deat...

Background: LHX4 encodes a member of the LIM-homeodomain transcription factor protein family that is required for development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies (CPHD).Objective/hypothesis: To investigate a cohort of patients with congenital hypopituitarism for mutations in LHX4.<p c...