Searchable abstracts of presentations at key conferences in endocrinology

ea0058p027 | Miscellaneous Endocrinology | BSPED2018

Audit of transition pathway to adult services for girls/young women with turner syndrome

Toner Paula , Narayan Kruthika , Crowne Elizabeth

Introduction: Children and young people with Turner Syndrome have regular follow up with a paediatric multidisciplinary team to monitor growth, puberty and cardiac comorbidities. As these young women transition to adult care, they need ongoing follow-up for surveillance of potential morbidity and reproductive issues. Following publication of the International Turner Syndrome Consensus Group guidelines on transitional care, a review of current clinical practice in our tertiary ...

ea0085oc3.1 | Oral Communications 3 | BSPED2022

A rare form of ovotesticular difference of sex development (DSD) in combination with severe early-onset obesity due to MC4R mutation: clinical features and diagnostic challenges

Hawton Katherine , Narayan Kruthika , Hamilton-Shield Julian , Giri Dinesh , Crowne Elizabeth

Background: We describe a patient with 46XX ovotesticular difference of sex development (DSD) due to 46XX/69XXY gonadal mixoploidy, also an NR5A1 variant, who developed severe early-onset obesity and subsequently a pathogenic MC4R variant was identified.Case Presentation: A term Caucasian baby weighing 3.64kg with non-consanguineous parents presented with atypical genitalia (Prader Stage 2-3) with clitoromegaly, perineal urethral openin...

ea0058p039 | Thyroid | BSPED2018

Isolated central congenital hypothyroidism (CCH) due to (Immunoglobulin SuperFamily member 1) IGSF-1 gene deficiency

Sharma Anu , Narayan Kruthika , Scurr Ingrid , Warner Justin , Burren Christine P

Introduction: Central congenital hypothyroidism (CCH), undetected by TSH-based NewbornScreening, occurs from TSH synthesis or secretion defects. An extremely rare (<1:100,000) cause concerns the recently described ImmunoGlobulinSuperFamily member 1 (IGSF1) gene, critical in TSH biosynthesis. These 2 infants highlight intriguing clinical features.Case-1: Term male (BW 3.95 kg) with poor feeding and persistent jaundice (max bilirubin 362 umol/l) despit...