hrp0094p2-471 | Thyroid | ESPE2021

Mitigating thyroid cancer risk in multinodular hyperplasia secondary to a 10q23.31 deletion (PTEN Hamartoma Tumour Syndrome)

Shaunak Meera , Davies Justin

Introduction: The phosphatase and tensin homolog (PTEN) hamartoma tumour syndrome (PHTS) groups related multi-system genetic disorders linked to germline mutations in the PTEN gene. There is an increased risk of thyroid cancer in PHTS, with some cases arising in childhood. Annual surveillance for thyroid cancer by ultrasound is recommended.Case report: A 15 year old female was referred to Paediatric Endocrinology by Clinical Genetics fo...

hrp0095p1-412 | Adrenals and HPA Axis | ESPE2022

A single centre experience of aromatase inhibitors to limit bone age advancement in pre-pubertal boys with adrenal disorders causing androgen excess

Shaunak Meera , Zichichi Giulia , Peters Catherine , Brain Caroline , Dattani Mehul

Introduction: Anastrozole, an aromatase inhibitor, prevents the conversion of androgen to oestrogen, which is required for the adolescent growth spurt and the attainment of peak bone mass. Anastrozole may help minimise bone age (BA) advancement in conditions associated with adrenal androgen excess, such as congenital adrenal hyperplasia (CAH) and premature adrenarche.Objectives: 1. To describe baseline characteristics an...

hrp0094p1-47 | Sex Endocrinology and Gonads A | ESPE2021

STK11 gene variant (Peutz-Jeghers Syndrome) presenting with unilateral pre-pubertal gynaecomastia and macro-orchidism without muco-cutaneous pigmentation or gastrointestinal symptoms.

Shaunak Meera , Side Lucy , Afzal Nadeem , Davies Justin ,

Introduction: We report two siblings presenting with pre-pubertal gynaecomastia and macro-orchidism, who were later diagnosed with Peutz-Jeghers Syndrome (PJS) secondary to a STK11 gene variant. Importantly neither child fulfilled the clinical criteria for diagnosis at presentation, with no muco-cutaneous pigmentation nor gastrointestinal symptoms.Case report: Sibling 1 was referred to Paediatric Endocrinology aged 4 years with ...

hrp0095p1-287 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Hyperinsulinism secondary to PMM2 gene variants: a case series from a quaternary centre reporting associated inflammatory bowel disease and aortopathy.

Shaunak Meera , Bockenhauer Detlef , Flanagan Sarah , Kiparissi Fevronia , Jones Kelsey , Gilbert Clare , Morgan Kate , Dastamani Antonia

Introduction: A promoter mutation (c.167G>T) in the phosphomannomutase 2 (PMM2) gene, either homozygous or occurring in trans with a PMM2 coding mutation, causes hyperinsulinism (HI) and polycystic kidney disease (PKD) – HIPKD. Organ-specific deficiency of PMM2 leads to the restricted phenotype of HIPKD, without typical clinical features of the Congenital Disorder of Glycosylation Type 1a (CDG1a), which is caused by recessive coding ...

hrp0089rfc2.5 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Identification of Characteristic Neurological Complications in Infants with Achondroplasia by Routine MRI Screening

Dougherty Harry , Shaunak Meera , Irving Melita , Thompson Dominic , Cheung Moira S

Background: Achondroplasia is the commonest type of skeletal dysplasia with an incidence of 1 in 20,000 and is due to recurrent and dominantly transmitted, activating mutations in Fibroblast Growth Factor Receptor 3 (FGFR3). Complications during infancy include foramen magnum stenosis and hydrocephalus which may lead to neurological morbidity and sudden unexplained mortality. Early detection and appropriate neurosurgical management can prevent these complications. How...