ESPE Abstracts

Menarche is a late pubertal event that occurs at an average age of 12.4 years and follows on an average of 2.5 years after the onset of breast development. When it occurs before the age of 10 years, it is considered early menarche. Isolated premature menarche is defined as onset of vaginal bleeding in a prepubertal female, in the absence of appropriate secondary sexual characters or a known pathological cause. It can present with isolated or recurrent periodic episodes of blee...

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This paper presents a case report of a British-Pakistani adolescent boy unexpectedly diagnosed with bilateral severe proliferative...

Introduction: Arginine vasopressin (AVP) and thirst are the main determinants of water homeostasis maintenance, and dysregulation leads to polyuria-polydipsia syndrome. This comprises of three key conditions: CDI due to insufficiently secreted AVP; NDI, due to renal AVP insensitivity and Primary Polydipsia (PP), caused by excessive fluid intake resulting in physiological suppression of AVP. Differentiating between these three conditions is important, as the tr...

Duplicated pituitary gland in association with other midline craniofacial anomalies – also described as DPG-plus syndrome – is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which has not been described in previous...