Oral Communications 3

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...

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ea0085oc3.2 | Oral Communications 3 | BSPED2022

Two cases on the carney complex spectrum secondary to PRKACA/PRKAR1A variants presenting with cushing syndrome in childhood

Shaunak Meera , McGlacken-Byrne Sinead , Dattani Mehul

Introduction: We present two cases of Carney and Carney-like Complex due to genetic aberrations with the cAMP/PKA pathway presenting with ACTH-independent Cushing Syndrome (CS) and extra-adrenal features.Case report: Case 1 was referred aged 4 years with a 15 month history of cyclical CS (periodic weight gain, facial roundness, hirsutism). Neuroimaging did not identify a pituitary abnormality. Biochemistry confirmed ACTH-independent hypercortisolism, wit...

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Endocrine Abstracts

49th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

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

Two cases on the carney complex spectrum secondary to PRKACA/PRKAR1A variants presenting with cushing syndrome in childhood

BiosciAbstracts