Endocrine Abstracts

The European Academy of Andrology (EAA) published the first consensus guideline on KS in 2021 to standardise the care provided to patients with Klinefelter Syndrome (KS) in various developmental stages. We conducted an online national survey advertised in the British Society of Paediatric Endocrinology and Diabetes newsletter (BSPED) to evaluate clinical care provided to children and young people (CYP) with KS. The survey ran over a period of 4 months (January-April 2023). We ...

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 case-report presents an adolescent British-Pakistani boy with TRMA, who was unexpectedly diagnosed with bilateral severe prol...

A 4.9-year-old girl presented with symptoms suggestive of early puberty and rapid growth. Her medical history revealed that she had been a tall child since infancy. Family history was notable for Lynch syndrome in her father and paternal grandmother. Upon examination, the patient was pre-pubertal but had a height of 124 cm (SDS 3.5) and a height velocity of 15 cm/year. Further investigations revealed elevated levels of IGF-1, IGFBP3, and failed GH suppression on an OGTT, indic...

The European Academy of Andrology (EAA) recently published consensus guidelines aiming to standardize the care provided to patients with Klinefelter syndrome (KS) across different stages of development. In this retrospective cross-sectional study, we reviewed the clinical care provided to 76 KS patients at Nottingham University Hospitals between 2000 and 2020.Methods: Data regarding age at presentation (n=30 paediatric, adult 46...

Recent advancements in genetic testing have revealed various X-chromosome abnormalities as causative factors for both familial and sporadic cases of Primary Ovarian Insufficiency (POI). In this case report, we present an intriguing instance of POI associated with a deletion in the critical region-1 on the long arm of the X-chromosome A 12.5-year-old girl of South Asian descent presented with 8 month history of irregular menstrual periods with bleeding lasting for 10 days and a...

Queen’s Medical Centre, Nottingham, United KingdomTyrosinemia type-1 is a rare autosomal recessive disorder. It usually presents in an acute form in early infancy. Rarely, it can also present as a chronic form with gradual onset. The key presenting features are failure to thrive, liver dysfunction and/or Fanconi syndrome. We present a perplexing case of a 2-year-old girl with tyrosinemia type-1, who initially presented with failure to thrive and hypophosphatemic rickets w...

Introduction: Improved survival following treatment for paediatric medulloblastomas has resulted in increased incidence of late effects, particularly endocrine sequelae. The complete picture of late effects, however, has been limited by short duration of follow up.Aims 1: To establish the evolution of endocrine sequelae in patients treated for medulloblastomaAim 2: To compare the prevalence of endocrine dysfunction among three majo...

The National Paediatric Diabetes Audit 2021 uncovered widening disparity in the utilisation of diabetes technologies among children and young people (CYP) with type 1 diabetes from ethnic minorities and low socioeconomic groups. Our data revealed that only 27.5% of CYP from ethnic minorities were using insulin pump therapy, compared to 50% from a white background. Unfortunately, our current staffing levels and available resources were inadequate to address this issue effective...

Duplication of pituitary gland in association with other midline craniofacial anomalies -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 hasn’t been described in previously reported cases. Ou...