Endocrine Abstracts

A 10-year old boy presented with 12-months history of headache, vomiting, declining school performance and change in behavior. There was no visual disturbance. Neurological examination was normal. Weight and height were between 50th−75th centile. CT head showed a large, partly calcified mass in the sellar region with acute hydrocephalus. Dexamethasone was immediately commenced and care was transferred to the neurosurgical centre.<p class="abstex...

A 5.65-year-old boy was referred with a 2-month history of accelerated growth and pubic hair development. Weight and height were >98th C. Pubertal assessment was G3 PH2 AH1 TV 5 ml/4 ml. There was no family history of precocious puberty. No birthmarks, or abdominal masses were present. Blood pressure was normal. Investigations revealed elevated testosterone (7.1 nmol/l), suppressed gonadotropins (LH <0.2 IU/l), normal 17-OHP, androstenedione and DHEAS, prepubertal LHRH...

A 3-years-old young girl, born to Caucasian non-consanguineous parents, presented with bowed legs, noticed since the age of 18-months. She had no significant past medical or family history. On examination, her height was −1.3 SDS (Mid parental height +1.87 SDS). She had widened wrists, genu varum and rachitic rosary. She had areas of skin hyperpigmentation on left forearm and anterior thigh.Investigations showed low 25-OH Vitamin D (35 nmol/l), nor...

Background: Twin sisters with infantile epilepsy developed biochemical hyperthyroidism after commencing Topiramate, which resolved post cessation. This case-report describes the events and has found limited evidence in the literature.Case presentation: MCDA twins, 9 months of age, were admitted with seizure activity. Additionally twin 2, had neurocutaneous melanosis and a viral respiratory illness. Medications on admission were: Levetiracetam, Vigabatrin...

Introduction: Cranial Diabetes Insipidus (DI) presenting in children beyond infancy is most commonly associated with sellar/suprasellar tumours and severe traumatic brain injury or haemorrhage. Less frequent causes may be genetic or idiopathic. Exceptional cases may be associated with minor head injury. We present a case of post-concussive head injury with DI, and anterior pituitary hormone deficits.Case: 15 year old malesustained a concussive head injur...

Background: Insulin dose requirements are higher during puberty and in overweight/obese individuals with type 1 diabetes mellitus (T1DM) due to insulin resistance. Through meta-analysis metformin has been shown to be beneficial as adjunctive therapy in T1DM adults independent of BMI. The large volumes of insulin required to administer higher insulin doses in insulin-resistant individuals have adverse effects on insulin absorption. Insulin degludec (Tresiba) U200 preparation al...

Introduction: Blood chimerism is the condition characterized by the presence of cells from at least 2 zygote lineages in only the lympho-hematopoietic system. It is very rare in humans and is most commonly seen in monozygotic monochorionic twins through placental anastomoses.Case report: A 12 years old young girl, one of dichorionic dizygotic twins, had a genetic test performed for paternity issues. CGH array showed 46XY genotype (90%) and another genoty...

Introduction: Beckwith-Wiedemann syndrome (BWS) is characterized by hyperinsulinaemic hypoglycaemia (HH), overgrowth, tumour predisposition and congenital malformations. Commonly, BWS is caused by epigenetic or genomic alterations, which disrupt genes in one or both of the two imprinted domains on chromosome 11p15.5. Rarely (~1%), paternally inherited duplications of 11p15 can result in BWS phenotype. We describe the first case of BWS associated with a paternally inherited dup...

Introduction: Congenital hypothyroidism (CH) occurs 1 in 3,000-4,000 live-births. The causes of CH can be divided into two groups: thyroid developmental defects (thyroid dysgenesis) and inborn errors of thyroid hormone biosynthesis (dyshormonogenesis). Although mutations in paired box gene 8 (PAX8) usually cause thyroid dysgenesis, they have been reported in association with eutopic thyroid gland without function. PAX8 has been described to have a role in regulating the expres...

Background: Pituitary apoplexy is uncommon in childhood and adolescence. Typical clinical features are acute confusion, headache, vomiting and visual disturbance. It is caused by haemorrhage into the pituitary gland. Its association with cerebral infarction is rare. We report an unusual case associated with a cerebral infarction secondary to internal carotid artery compression.Case: 16 year old male was referred to the ‘Stroke Team’ with acute ...