Sunita De Sousa

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy

Wu Tzen Lim, Lesley Rawlings, Amanda Wells, Cassandra Vakulin et autres

Hereditary hypophosphatemic rickets, most commonly caused by X-linked dominant PHEX variants, leads to hypophosphatemia and bone mineralization defects. We identified a novel mosaic nonsense variant in the PHEX gene on the X chromosome by next-generation sequencing-c.1971C > A, p.(Tyr657X)--in a man with …

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Obesity and Reproduction

Andrew Peel, George Balalis, Sunita De Sousa, Robert J. Norman

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337.2: The Epidemiology of Hereditary Pancreatitis in Australia and its effect on patient of Total Pancreatectomy with Islet Auto-Transplantation (TPIAT).

Denghao Wu, James Zuiani, Chris Drogemuller, Sunita De Sousa et autres

Centre for Clinical and Experimental Transplantation. Hereditary Pancreatitis and AutoIslet Transplant Trials in Australia. Introduction: Hereditary Pancreatitis (HP) is a rare fibro-inflammatory genetic disease of the pancreas that follows a pathological pathway of recurrent pancreatitis precipitating cycles of inflammation and resolution, causing …

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214.4: The Genetic Epidemiology of Hereditary Pancreatitis in Australia and Its Effect on Patients of Total Pancreatectomy and Islet Auto Translation (TP-IAT)

Denghao Wu, Chris Drogemuller, Richard Couper, David J. Torpy et autres

Introduction: Hereditary Pancreatitis (HP) is a cause of pancreatitis in childhood leading to lifelong disability and an elevated risk of pancreatic cancer. The clinical and genetic features of HP have not been characterised in Australia. This project aims to understand the effects …

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MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations

Amanda Seabrook, Ayanthi Wijewardene, Sunita De Sousa, Tang Wong et autres

CONTEXT: Germline CDKN1B pathogenic variants result in multiple endocrine neoplasia type 4 (MEN4), an autosomal dominant hereditary tumor syndrome variably associated with primary hyperparathyroidism, pituitary adenoma, and duodenopancreatic neuroendocrine tumors. OBJECTIVE: To report the phenotype of 3 unrelated cases each with a …

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Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase- Deficient Paragangliomas - Supplementary Material

Sunita De Sousa, John Toubia, Tristan Hardy, Jinghua Feng et autres

Supplemental data to accompany: Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient ParagangliomasJ Endocrinol Soc 2020https://doi.org/10.1210/jendso/bvaa071

Apatient found to have Cushing syndrome

Sunita De Sousa, Robert J. Norman

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Double pituitary adenomas with distinct histological features: presentation of an interesting case

Raha Madadi Ghahan, Sunita De Sousa, Peter Earls

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Polycystic ovary syndrome: prognosis and risk of comorbidity

Tristan Hardy, Sunita De Sousa, Robert J. Norman

Polycystic ovary syndrome (PCOS) is a heterogeneous disorder with protean clinical manifestations across the lifespan. Although most commonly diagnosed in the reproductive years due to its association with anovulatory infertility, the PCOS phenotype also includes an increased predisposition to pregnancy complications, psychological …

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