Explanipedia

Early Postoperative Decline in Insulin-Like Growth Factor 1 (IGF-1) Predicts Surgical Remission of Acromegaly Open

Christopher D. Ovenden, Edward Mignone, Ian Chapman, David J. Torpy, Wayne Rankin , et al. · 2025

The degree of IGF-1 decline within days of pituitary surgery predicts 3-month acromegaly remission. Our findings argue for IGF-1 measurement before discharge to inform patient counseling during the surgical admission and guide intensity of…

MON-054 Aripiprazole Use as a Cause for Dopamine Agonist Failure in the Treatment of Prolactinomas Open

Edward Mignone, Alistair Jukes, Valentine Rowan, Richard Allison, Sunita M C De Sousa · 2025

Disclosure: E. Mignone: None. A. Jukes: None. V. Rowan: None. R. Allison: None. S.M. De Sousa: None. Prolactinomas are the most common hypersecretory pituitary adenoma. Traditional first line therapy is dopamine agonists, which are highly …

SAT-025 The value of variant of uncertain significance reanalysis in MEN1 Open

Luke Andrew Ephraums, Sunita M C De Sousa, Stephen Stranks, Lesley Rawlings, Hamish S. Scott , et al. · 2025

Disclosure: L.A. Ephraums: None. S.M. De Sousa: None. S. Stranks: None. L. Rawlings: None. H. Scott: None. C. Vakulin: None. Background: Variants of uncertain significance (VUS) are genetic variants with inadequate evidence to be classifie…

Non-penetrant Xq26.3 duplication involving the invariant TAD border: clinical evidence for the VGLL1 region as the GPR101 pituitary enhancer of X-linked acrogigantism Open

Cathie Hilditch, Samuel D. Curtis, Samuel Cotton, Shannon LeBlanc, Sunita M C De Sousa · 2025

Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults Open

Sunita M C De Sousa, Timothy M. E. Davis, James Harraway, Mark Greenslade, Kathy H. C. Wu , et al. · 2025

Introduction Monogenic diabetes accounts for 2–5% of diabetes. Although its identification has substantial therapeutic implications, more than 80% of affected individuals are undiagnosed or misdiagnosed as having type 1 or 2 diabetes. This…

The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours Open

Andreas Orsmond, Sunita M C De Sousa, Ann McCormack · 2025

FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours Open

Andreas Orsmond, Gayathri Krishnan, Lyle J. Palmer, Sunita M C De Sousa, Ann McCormack · 2025

Purpose Pituitary tumours are relatively common, and familial in approximately 5% of cases. However, germline genetic contributions to pituitary tumour development are incompletely characterised. Preliminary evidence suggests pituitary tum…

Correction: Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance Open

Sunita M C De Sousa, Jennifer Phan, Amanda Wells, Kathy H. C. Wu, Hamish S. Scott · 2025

PNEUMONIA ASSOCIADA À VENTILAÇÃO MECÂNICA NA UNIDADE DE TERAPIA INTENSIVA Open

Judit Callañaupa Yepez, Diogo Felipe dos Santos Tobias, J.G. Silva, Mahysa Bona de Carvalho Said, Nadia de Almeida Engel , et al. · 2025

A pneumonia associada à ventilação mecânica (PAV) é uma importante infecção relacionada à assistência à saúde (IRAS) que acarreta aumento da mortalidade, dias de permanência na Unidade de Terapia Intensiva (UTI) e aumento dos custos hospit…

The role of BRAF testing of Rathke’s cleft cysts to identify missed papillary craniopharyngioma Open

Nicholas G. Candy, Edward Mignone, Esther Quick, Barbara Koszyca, Alex Brown , et al. · 2025

Buriti Oil (Mauritia flexuosa L.) as Functional Feed for Broiler Chickens Open

Leilane Rocha Barros Dourado, Adriana S. A. Brauna, Roseane Madeira Bezerra, Iara S. Sousa, Filipa Carvalho , et al. · 2025

This experiment evaluated the effects of including buriti oil (BO) in the diet of broilers on growth performance, nutrient digestibility, carcass yield, meat quality, blood parameters, intestinal morphometry, the proliferation of collagen …

Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance Open

Sunita M C De Sousa, Jennifer Phan, Amanda Wells, Kathy H. C. Wu, Hamish S. Scott · 2025

Aims To assess the utility of reanalysing GCK variants of uncertain significance (VUS) as an intervention to improve the detection of monogenic diabetes. Methods We examined GCK VUS in a local cohort of individuals with suspected monogenic…

Systematic review of fluorescence-guided surgery in pituitary neuroendocrine tumours Open

Christopher D. Ovenden, Nicholas G. Candy, J. S. McNeil, Ryan Beerling Dolovac, Mendel Castle‐Kirszbaum , et al. · 2025

Objective Fluorescence-guided surgery represents a potential novel technique to improve the extent of tumour resection, minimise resection of normal tissue, and optimise outcomes in pituitary neuroendocrine tumour surgery. We systematicall…

Aripiprazole use as a cause of dopamine agonist failure in the treatment of prolactinomas Open

Edward Mignone, Alistair Jukes, Rowan Valentine, Richard Allison, Sunita M C De Sousa · 2024

Prolactinomas are the most common hypersecretory pituitary adenoma. The traditional first-line therapy is dopamine agonists (DAs), which are highly effective and tolerated in the majority of cases. However, DAs have the potential for psych…

17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases Open

Annabelle L Willemsen, David J. Torpy, Sunita M C De Sousa, Henrik Falhammar, R. Louise Rushworth · 2024

Purpose Homozygous pathogenic variants in the CYP17A1 gene result in defective activity of the steroidogenic enzymes 17α-hydroxylase/17,20-lyase resulting in the clinical syndrome 17-OHD characterized by hypertension, hypokalemia, and diso…

Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas Open

Sunita M C De Sousa, Ann McCormack, Andreas Orsmond, Angeline Shen, Christopher J Yates , et al. · 2024

Context CHEK2 is a cell cycle checkpoint regulator gene with a long-established role as a clinically relevant, moderate risk breast cancer predisposition gene, with greater risk ascribed to truncating variants than missense variants. Objec…

Tumour fibrosis in dopamine agonist-exposed prolactinomas is a diminishing concern Open

Sunita M C De Sousa, Alistair Jukes, Nicholas G. Candy, Ian Chapman, David J. Torpy , et al. · 2024

PAM variants in patients with thyrotrophinomas, cyclical Cushing’s disease and prolactinomas Open

Sunita M C De Sousa, Angeline Shen, Christopher J Yates, Roderick Clifton‐Bligh, Stephen Santoreneos , et al. · 2023

Introduction Germline loss-of-function variants in PAM , encoding peptidylglycine α-amidating monooxygenase (PAM), were recently discovered to be enriched in conditions of pathological pituitary hypersecretion, specifically: somatotrophino…

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing Open

Sunita M C De Sousa, Kathy H. C. Wu, Kevin Colclough, Lesley Rawlings, Andrew Dubowsky , et al. · 2023

Pituitary tumours: molecular and genetic aspects Open

Sunita M C De Sousa, Nèle F Lenders, Lydia S. Lamb, Warrick J. Inder, Ann McCormack · 2023

‘Pituitary tumours’ is an umbrella term for various tumours originating from different regions of the hypothalamic–pituitary system. The vast majority of pituitary tumours are pituitary adenomas, also recently referred to as pituitary neur…

Cabergoline-associated valvulopathy of the tricuspid valve in the treatment of prolactinoma Open

Annabelle G Hayes, Masoumeh G. Shirazi, Anand Thiyagarajah, David J. Torpy, Sunita M C De Sousa · 2022

Summary Cabergoline-associated valvulopathy (CAV) is defined by the echocardiographic triad of moderate or severe regurgitation, valvular thickening and restricted valvular motion. While it is a well-described complication of dopamine agon…

Dopamine agonist therapy for prolactinomas: do we need to rethink the place of surgery in prolactinoma management? Open

Sunita M C De Sousa · 2022

The current treatment paradigm for prolactinomas involves dopamine agonist (DA) therapy as the first-line treatment, with surgical resection reserved for cases where there is DA failure due to resistance or intolerance. This review highlig…

Primary hyperparathyroidism in adults—(Part I) assessment and medical management: Position statement of the endocrine society of Australia, the Australian & New Zealand endocrine surgeons, and the Australian & New Zealand bone and mineral society Open

Frances Milat, Sabashini K. Ramchand, Madhuni Herath, Justin S. Gundara, Simon Harper , et al. · 2021

Objective To formulate clinical consensus recommendations on the presentation, assessment, and management of primary hyperparathyroidism (PHPT) in adults. Methods Representatives from relevant Australian and New Zealand Societies used a sy…

Primary hyperparathyroidism in adults—(Part II) surgical management and postoperative follow‐up: Position statement of the Endocrine Society of Australia, The Australian & New Zealand Endocrine Surgeons, and The Australian & New Zealand Bone and Mineral Society Open

Julie Ann Miller, Justin S. Gundara, Simon Harper, Madhuni Herath, Sabashini K. Ramchand , et al. · 2021

Objective To develop evidence‐based recommendations to guide the surgical management and postoperative follow‐up of adults with primary hyperparathyroidism. Methods Representatives from relevant Australian and New Zealand Societies used a …

CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin Open

Emily J. Meyer, Lucía Spangenberg, María José Ramírez-Bajo, Sunita M C De Sousa, Víctor Raggio , et al. · 2021

Corticosteroid-binding globulin (CBG) is the main transport protein for cortisol, binding up to 90% in a 1:1 ratio. CBG provides transport of cortisol within the circulation and targeted cortisol tissue delivery. Here, we describe the clin…

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

Sunita M C De Sousa, John Toubia, Tristan Hardy, Jinghua Feng, Paul Wang , et al. · 2020

Context Germline mutations in the succinate dehydrogenase genes (SDHA/B/C/D, SDHAF2—collectively, “SDHx”) have been implicated in paraganglioma (PGL), renal cell carcinoma (RCC), gastrointestinal stromal tumor (GIST), and pituitary adenoma…

MON-LB48 The Genomic Landscape of Sporadic Thyrotrophinomas Open

Angeline Shen, Paul Wang, Sunita M C De Sousa, David J. Torpy, Hamish S. Scott , et al. · 2020

Background: Thyrotrophinoma (TSHoma) is rare and knowledge on the genomic landscape of this tumour type is very limited. Aim: To perform whole-exome sequencing (WES) in a population of TSHomas to identify recurrent somatic genetic events M…

A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing’s disease Open

Sunita M C De Sousa, Jim Manavis, Jinghua Feng, Paul Wang, Andreas Schreiber , et al. · 2020

Development and validation of a targeted gene sequencing panel for application to disparate cancers Open

Mark J. McCabe, Marie Gauthier, Chia-Ling Chan, Tanya Thompson, Sunita M C De Sousa , et al. · 2019

Impulse Control Disorders in Dopamine Agonist-Treated Hyperprolactinemia: Prevalence and Risk Factors Open

Sunita M C De Sousa, John Baranoff, R. Louise Rushworth, Jessica Butler, Jane Sorbello , et al. · 2019

Context There are growing reports of dopamine agonist (DA)-induced impulse control disorders (ICDs) in hyperprolactinemic patients. However, the magnitude of this risk and predictive factors remain uncertain. Objective To determine ICD pre…

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