Sunita De Sousa

Research Interests

Endocrinology Genetics

APrf Sunita De Sousa

Grant-Funded Researcher D

School of Medicine

College of Health

Eligible to supervise Masters and PhD - email supervisor to discuss availability.

A/Prof Sunita De Sousa is a Staff Specialist in Endocrinology and Genetics at the Royal Adelaide Hospital, and a Clinical Associate Professor at the University of Adelaide. She has completed an MSc at the University of London, and fellowships in pituitary endocrinology at St Vincent’s Hospital Sydney and clinical genetics in the SA Clinical Genetics Service. Her PhD on the genetics and clinical aspects of prolactinomas was awarded the 2020 University of Adelaide Doctoral Research Medal. With ongoing research funding from the Medical Research Future Fund (MRFF), Royal Australasian College of Physicians, Endocrine Society of Australia and Royal Adelaide Hospital, Sunita’s postdoctoral studies focus on monogenic diabetes and hereditary pancreatitis. Her recent research also covers pituitary tumours, paragangliomas, hyperparathyroidism and congenital adrenal hyperplasia. Sunita was most recently elected to the Council of the Endocrine Society of Australia. She also serves on the eviQ Cancer Genetics Reference Committee and the US Endocrine Society Steering Committee for Endocrine Cancers Special Interest Group, and she was a co-author of the recent Australian hyperparathyroidism guidelines. With the aid of local and interstate collaborators, Sunita is the founding member of EndoGen, a national network of endocrine genetic centres which has led to Australia’s first national endocrine genetics MDT meeting.

Sunita has two research streams: endocrine genetics and pituitary endocrinology. At the juncture of these subspecialties, she is highly active in the area of pituitary tumour genetics with ongoing basic and clinical international collaborations exploring putative new pituitary tumorigenesis genes including the CHEK2 gene. In endocrine genetics, her research also focuses on monogenic diabetes, hereditary pancreatitis and multiple endocrine neoplasia. Other topics in her pituitary endocrinology research include novel methodologies in both the assessment and treatment of pituitary tumours. Recent new appointments include Associate Editor, Editorial Board of Endocrine Oncology.

Date Position Institution name
2021 - ongoing Clinical Associate Professor University of Adelaide
2019 - ongoing Staff Specialist Endocrine & Metabolic Unit, Royal Adelaide Hospital
2018 - ongoing Staff Specialist South Australian Adult Genetics Unit, Royal Adelaide Hospital

Date Type Title Institution Name Country Amount
2020 Award University Doctoral Research Medal University of Adelaide Australia -

Date Institution name Country Title
2020 University of Adelaide Australia PhD
2016 Royal Australasian College of Physicians Australia FRACP
2015 University of London United Kingdom MSc
2009 University of New South Wales Australia MBBS (Hons)

Year Citation
2025 Willemsen, A. L., Torpy, D. J., De Sousa, S., Falhammar, H., & Rushworth, R. L. (2025). 17α-hydroxylase/17,20-lyase deficiency (17-OHD): A Meta-analysis of Reported Cases.. The Journal of clinical endocrinology and metabolism, 110(4), e1261-e1271.
DOI Scopus1 WoS1 Europe PMC1
2025 Mignone, E., Jukes, A. K., Valentine, R., Allison, R., & De Sousa, S. M. C. (2025). Aripiprazole use as a cause of dopamine agonist failure in the treatment of prolactinomas.. Endocrine oncology (Bristol, England), 5(1), e240065.
DOI
2025 De Sousa, S. M. C., Phan, J. M. N., Wells, A., Wu, K. H. C., & Scott, H. S. (2025). Improving detection of monogenic diabetes through reanalysis of <i>GCK</i> variants of uncertain significance. ACTA DIABETOLOGICA, online(8), 7 pages.
DOI Scopus1 WoS3 Europe PMC1
2025 Candy, N. G., Mignone, E., Quick, E., Koszyca, B., Brown, A., Chapman, I. M., . . . De Sousa, S. M. C. (2025). The role of BRAF testing of Rathke's cleft cysts to identify missed papillary craniopharyngioma.. Pituitary, 28(1), 30.
DOI Scopus2 WoS2 Europe PMC1
2025 De Sousa, S. M. C., Phan, J. M. N., Wells, A., Wu, K. H. C., & Scott, H. S. (2025). Correction to: Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance (Acta Diabetologica, (2025), 10.1007/s00592-025-02449-8). Acta Diabetologica, 62(10), 1827-1828.
DOI
2025 Orsmond, A., Krishnan, G., Palmer, L. J., De Sousa, S. M. C., & McCormack, A. (2025). FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours.. Pituitary, 28(2), 39.
DOI Scopus2 WoS2 Europe PMC1
2025 De Sousa, S. M. C. (2025). From bench to bedside in the sella: translational developments in pituitary tumour genetics. Endocrine Related Cancer, 32(5), 14 pages.
DOI
2025 Lim, W. T., Nenke, M., Rawlings, L., Wells, A., Vakulin, C., Waters, W., & De Sousa, S. (2025). A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy. Calcified Tissue International, 116(1), 87.
DOI
2025 Orsmond, A., De Sousa, S. M. C., & McCormack, A. (2025). The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours. Journal of Neuro Oncology, 175(1), 379-388.
DOI
2025 De Sousa, S. M., Davis, T. M., Harraway, J., Greenslade, M., Wu, K. H., Paul, R. G., . . . Greenfield, J. R. (2025). Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults.. The Medical journal of Australia, 223(9), 484-491.
DOI Scopus3 WoS2 Europe PMC3
2025 Hilditch, C., Curtis, S., Cotton, S., LeBlanc, S., & De Sousa, S. (2025). 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. Pituitary, 28(4), 5 pages.
DOI
2025 Valetopoulou, A., Newall, N., Khan, D. Z., Borg, A., Bouloux, P. M. G., Bremner, F., . . . McLean, A. L. (2025). A core outcome set for pituitary surgery research: an international delphi consensus study. Pituitary, 28(4), 88.
DOI Scopus2 Europe PMC2
2025 Ovenden, C. D., Candy, N., McNeil, J., Dolovac, R. B., Castle-Kirszbaum, M., Helal, A., . . . Psaltis, A. (2025). Systematic review of fluorescence-guided surgery in pituitary neuroendocrine tumours.. Endocrine oncology (Bristol, England), 5(1), e250037.
DOI
2025 Ovenden, C., Mignone, E., Chapman, I., Torpy, D. J., Rankin, W., Jukes, A., . . . De Sousa, S. M. C. (2025). Early postoperative decline in insulin-like growth factor 1 (IGF-1) predicts surgical remission of acromegaly.. World neurosurgery, 205, 124611.
DOI
2025 Kusay, Y., Wu, D., De Sousa, S. M. C., Drogemuller, C. J., Coates, P. T., Kok, C. H., & Scott, H. S. (2025). Evaluating NGS variant callers in a challenging genomic context with a focus on the PRSS1-PRSS2 locus for hereditary pancreatitis. Gut, online, 1-3.
DOI
2024 De Sousa, S. M. C., Jukes, A. K., Candy, N. G., Chapman, I. M., Torpy, D. J., Shivalingam, B., . . . Santoreneos, S. (2024). Tumour fibrosis in dopamine agonist-exposed prolactinomas is a diminishing concern.. Nat Rev Endocrinol, 20(5), 314.
DOI Scopus6 WoS6 Europe PMC4
2024 De Sousa, S. M. C., McCormack, A., Orsmond, A., Shen, A., Yates, C. J., Clifton Bligh, R., . . . Scott, H. S. (2024). Increased prevalence of germline pathogenic CHEK2 variants in individuals with pituitary adenomas. Journal Of Clinical Endocrinology & Metabolism, 109(11), 2720-2728.
DOI Scopus5 WoS5 Europe PMC7
2023 Hayes, A. G., Shirazi, M. G., Thiyagarajah, A., Torpy, D. J., & De Sousa, S. M. C. (2023). Cabergoline-associated valvulopathy of the tricuspid valve in the treatment of prolactinoma. Endocrine Oncology, 3(1), e220086.
DOI
2023 De Sousa, S. M. C., Lenders, N. F., Lamb, L. S., Inder, W. J., & McCormack, A. (2023). Pituitary tumours: molecular and genetic aspects. Journal of Endocrinology, 257(3), 16 pages.
DOI Scopus14 WoS12 Europe PMC10
2023 De Sousa, S. M. C., Wu, K. H. C., Colclough, K., Rawlings, L., Dubowsky, A., Monnik, M., . . . Torpy, D. J. (2023). 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. Acta Diabetologica: an international journal devoted to the study of clinical and experimental diabetes and metabolism, 61(2), 181-188.
DOI Scopus3 WoS4 Europe PMC4
2023 De Sousa, S. M. C., Shen, A., Yates, C. J., Clifton Bligh, R., Santoreneos, S., King, J., . . . Scott, H. S. (2023). PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas. Frontiers In Endocrinology, 14(1305606), 1-10.
DOI WoS7 Europe PMC5
2022 De Sousa, S. M. C., Carroll, R. W., Henderson, A., Burgess, J., & Clifton-Bligh, R. J. (2022). A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes. Endocrine, 75(1), 23-32.
DOI Scopus13 WoS13 Europe PMC12
2022 Wu, D., Bampton, T. J., Scott, H. S., Brown, A., Kassahn, K., Drogemuller, C., . . . Coates, P. T. (2022). The clinical and genetic features of hereditary pancreatitis in South Australia.. Medical Journal of Australia, 216(11), 578-582.
DOI Scopus7 WoS5 Europe PMC4
2022 De Sousa, S. M. C. (2022). Dopamine agonist therapy for prolactinomas: do we need to rethink the place of surgery in prolactinoma management?. Endocrine oncology (Bristol, England), 2(1), R31-R50.
DOI Europe PMC19
2021 Miller, J. A., Gundara, J., Harper, S., Herath, M., Ramchand, S. K., Farrell, S., . . . Grossmann, M. (2021). Primary hyperparathyroidism in adults—(Part II) surgical management and postoperative follow-up: Position statement of the Endocrine Society of Australia, The Australian &amp; New Zealand Endocrine Surgeons, and The Australian &amp; New Zealand Bone and Mineral Society. Clinical Endocrinology, 101(5), 516-530.
DOI Scopus7 WoS6 Europe PMC6
2021 Milat, F., Ramchand, S. K., Herath, M., Gundara, J., Harper, S., Farrell, S., . . . Grossmann, M. (2021). Primary hyperparathyroidism in adults—(Part I) assessment and medical management: Position statement of the endocrine society of Australia, the Australian &amp; New Zealand endocrine surgeons, and the Australian &amp; New Zealand bone and mineral society. Clinical Endocrinology, 100(1), 3-18.
DOI Scopus7 WoS7 Europe PMC9
2021 Meyer, E. J., Spangenberg, L., Ramírez, M. J., De Sousa, S. M. C., Raggio, V., & Torpy, D. J. (2021). CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin. Journal of the Endocrine Society, 5(9), 8 pages.
DOI Scopus9 WoS8 Europe PMC6
2020 De Sousa, S. M. C., Toubia, J., Hardy, T. S. E., Feng, J., Wang, P., Schreiber, A. W., . . . Torpy, D. J. (2020). Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas. Journal of the Endocrine Society, 4(12), 1-12.
DOI Scopus12 WoS12 Europe PMC12
2020 De Sousa, S. M. C., Manavis, J., Feng, J., Wang, P., Schreiber, A. W., Scott, H. S., & Torpy, D. J. (2020). A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease. BMC Endocrine Disorders, 20(article no. 18), 2-6.
DOI Scopus6 WoS6 Europe PMC5
2020 De Sousa, S. M. C., Baranoff, J., Rushworth, R. L., Butler, J., Sorbello, J., Vorster, J., . . . Torpy, D. J. (2020). Impulse control disorders in dopamine agonist-treated hyperprolactinemia: prevalence and risk factors.. The Journal of clinical endocrinology and metabolism, 105(3), 108-118.
DOI Scopus60 WoS47 Europe PMC41
2019 McCabe, M. J., Gauthier, M. E. A., Chan, C. L., Thompson, T. J., De Sousa, S. M. C., & Cowley, M. J. (2019). Development and validation of a targeted gene sequencing panel for application to disparate cancers. Scientific Reports, 9(1), 1-16.
DOI Scopus23 WoS23 Europe PMC22
2019 Du, Y. T., Moore, L., Poplawski, N. K., & De Sousa, S. M. C. (2019). Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities. Endocrinology, diabetes and metabolism case reports, 2019(1), 1-6.
DOI Scopus9 WoS2 Europe PMC6
2019 De Sousa, S. M. C., Saleem, M., Rankin, W., & Torpy, D. J. (2019). Serum prolactin overestimation and risk of misdiagnosis. ENDOCRINOLOGY DIABETES & METABOLISM, 2(3), 4 pages.
DOI WoS4 Europe PMC4
2019 De Sousa, S. M. C., Wang, P. P. S., Santoreneos, S., Shen, A., Yates, C. J., Babic, M., . . . Scott, H. S. (2019). The genomic landscape of sporadic prolactinomas. Endocrine pathology, 30(4), 318-328.
DOI Scopus18 WoS18 Europe PMC19
2019 De Sousa, S. M. C., & Jesudason, D. (2019). Cover Image, Volume 90, Issue 1. Clinical Endocrinology, 90(1).
DOI
2019 De Sousa, S. M. C., & Jesudason, D. (2019). Rebound vertebral and non-vertebral fractures during denosumab interruption in a postmenopausal woman. Clinical Endocrinology, 90(1), 250-252.
DOI Scopus5 WoS4 Europe PMC3
2018 De Sousa, S. M. C., Hardy, T. S. E., Scott, H. S., & Torpy, D. J. (2018). Genetic testing in endocrinology. Clinical Biochemist Reviews, 39(1), 17-28.
Scopus16 Europe PMC9
2018 De Sousa, S., Sheriff, N., Tran, C., Menzies, A., Tsang, V., Long, G., & Tonks, K. (2018). Fall in thyroid stimulating hormone (TSH) may be an early marker of ipilimumab-induced hypophysitis. Pituitary, 21(3), 274-282.
DOI Scopus29 WoS25 Europe PMC20
2017 De Sousa, S. M. C., McCormack, A. I., McGrath, S., & Torpy, D. J. (2017). Prolactin correction for adequacy of petrosal sinus cannulation may diminish diagnostic accuracy in Cushing's disease. Clinical Endocrinology, 87(5), 515-522.
DOI Scopus24 WoS23 Europe PMC14
2017 De Sousa, S. M. C., Meyer, E. J., Rankin, W., Brautigan, P. J., Burt, M. G., & Torpy, D. J. (2017). Vasculogenic hyperprolactinemia: severe prolactin excess in association with internal carotid artery aneurysms. Pituitary, 20(6), 676-682.
DOI Scopus5 WoS4 Europe PMC4
2017 De Sousa, S. M. C., Stowasser, M., Feng, J., Schreiber, A. W., Wang, P., Hahn, C. N., . . . Gagliardi, L. (2017). ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II). Journal of human hypertension, 31(12), 857-859.
DOI Scopus6 WoS3 Europe PMC5
2017 De Sousa, S., Chapman, I., Falhammar, H., & Torpy, D. (2017). Dopa-testotoxicosis: disruptive hypersexuality in hypogonadal men with prolactinomas treated with dopamine agonists. Endocrine, 55(2), 618-624.
DOI Scopus44 WoS37 Europe PMC31
2017 De Sousa, S., McCabe, M., Wu, K., Roscioli, T., Gayevskiy, V., Brook, K., . . . McCormack, A. (2017). Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. European Journal of Endocrinology, 176(5), 635-644.
DOI Scopus36 WoS29 Europe PMC27
2016 De Sousa, S., Haghighi, K., Qiu, M., Greenfield, J., & Chen, D. (2016). Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting with Hyperinsulinemic Hypoglycemia. Pancreas, 45(1), 154-159.
DOI Scopus10 WoS10 Europe PMC11
2016 De Sousa, S. M. C., Kassahn, K. S., McIntyre, L. C., Chong, C. E., Scott, H. S., & Torpy, D. J. (2016). Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome. BMC Endocrine Disorders, 16(1), 58-1-58-7.
DOI Scopus7 WoS4 Europe PMC4
2016 de Sousa, S. M. C., & Mccormack, A. I. (2016). Cutaneous lichen amyloidosis in multiple endocrine neoplasia. Internal Medicine Journal, 46(1), 116-117.
DOI Scopus3 WoS2 Europe PMC3
2016 De Sousa, S., & Norman, R. (2016). Metabolic syndrome, diet and exercise. Best Practice and Research: Clinical Obstetrics and Gynaecology, 37, 140-151.
DOI Scopus48 WoS40 Europe PMC39
2016 De Sousa, S. M. C., Maiti, K., Smith, R., & McCormack, A. I. (2016). Corticotrophin-releasing hormone (CRH) expression in the dermoid component of ovarian teratomas. Journal of the European Academy of Dermatology and Venereology, 30(5), 867-869.
DOI
2015 De Sousa, S. M. C., Earls, P., & McCormack, A. I. (2015). Pituitary hyperplasia: case series and literature review of an under-recognised and heterogeneous condition. ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2015, 7 pages.
DOI WoS19 Europe PMC24
2015 Lam, T., Chan, M. M. K., Sweeting, A. N., De Sousa, S. M. C., Clements, A., Carlino, M. S., . . . Chipps, D. R. (2015). Ipilimumab-induced hypophysitis in melanoma patients: An Australian case series. Internal Medicine Journal, 45(10), 1066-1073.
DOI Scopus28 WoS25 Europe PMC21
2014 De Sousa, S. M. C., Long, G. V., & Tonks, K. T. (2014). Ipilimumab-induced hypophysitis: Early Australian experience. Medical Journal of Australia, 201(4), 198-199.
DOI Scopus7 WoS7 Europe PMC7

Year Citation
2018 Hardy, T. S. E., De Sousa, S. M. C., & Norman, R. J. (2018). Obesity and reproduction. In M. J. Skinner (Ed.), Encyclopedia of Reproduction (2 ed., pp. 87-93). US: Academic Press.
DOI Scopus1
2018 Hardy, T. S. E., De Sousa, S. M. C., & Norman, R. J. (2018). Obesity and Reproduction. In Encyclopedia of Reproduction Volume 1 6 Second Edition (Vol. 4, pp. 87-93).
DOI
2015 De Sousa, S., & Norman, R. J. (2015). A patient found to have Cushing syndrome. In N. S. Macklon, H. M. Fatemi, R. J. Norman, & P. Patrizio (Eds.), Case Studies in Assisted Reproduction: Common and Uncommon Presentations (pp. 50-52). Cambridge: Cambridge University Press.
DOI
2013 Hardy, T., De Sousa, S., & Norman, R. J. (2013). Polycystic ovary syndrome: Prognosis and risk of comorbidity. In Novel Insights into the Pathophysiology and Treatment of Pcos (pp. 123-137). Future Medicine Ltd.
DOI Scopus2

Year Citation
2018 De Sousa, S. M. C., McCormack, A. I., McGrath, S., & Torpy, D. J. (2018). Use of prolactin in inferior petrosal sinus sampling is misleading. In CLINICAL ENDOCRINOLOGY Vol. 89 (pp. 32). Perth, AUSTRALIA: WILEY.
WoS1

Year Citation
2024 Wu, D., Zuiani, J. D., Drogemuller, C. J., De Sousa, S. M. C., Adelson, D., Torpy, D., & Coates, P. T. (2024). The epidemiology of hereditary pancreatitis in Australia and its effect on patient of total pancreatectomy with islet auto-transplantation (TPIAT). Poster session presented at the meeting of Abstracts of the 30th International Congress of The Transplantation-Society (TTS2024), as published in Transplantation. Istanbul, TURKEY: Lippincott Williams & Wilkins.
DOI
2017 De Sousa, S. M. C., Chapman, I. M., Falhammar, H., & Torpy, D. J. (2017). Dopa-testotoxicosis: a novel drug toxicity of dopamine agonists in male prolactinoma patients. Poster session presented at the meeting of CLINICAL ENDOCRINOLOGY. WILEY-BLACKWELL.
2017 de Sousa, S. M. C., Stowasser, M., Feng, J., Schreiber, A. W., Hahn, C. N., Torpy, D. J., . . . Scott, H. S. (2017). Sequence variants in ARMC5 are not implicated in familial hyperaldosteronism type II. Poster session presented at the meeting of Clinical endocrinology. UK: Wiley-Blackwell Publishing.
2017 Meyer, E. J., De Sousa, S. M. C., Burt, M. G., & Torpy, D. J. (2017). Cavernous internal carotid artery ansurysm: a rare cause of marked hyperprolactinaemia. Poster session presented at the meeting of CLINICAL ENDOCRINOLOGY. WILEY-BLACKWELL.

Date Role Research Topic Program Degree Type Student Load Student Name
2025 Co-Supervisor Improving safety and efficacy in endoscopic pituitary adenoma surgery Doctor of Philosophy Doctorate Full Time Mr Christopher Dillon Ovenden
2025 Principal Supervisor Novel applications of molecular imaging and theranostics in endocrine neoplasia. Doctor of Philosophy Doctorate Part Time Mr James Michael McNeil
2025 Co-Supervisor Improving safety and efficacy in endoscopic pituitary adenoma surgery Doctor of Philosophy Doctorate Full Time Mr Christopher Dillon Ovenden
2025 Principal Supervisor Novel applications of molecular imaging and theranostics in endocrine neoplasia. Doctor of Philosophy Doctorate Full Time Mr James Michael McNeil
2022 Co-Supervisor The Genetic Epidemiology of Hereditary Pancreatitis in Australia and its effects on patients of Total Pancreatectomy with Auto Islet Transplantation. Doctor of Philosophy Doctorate Full Time Mr Denghao Wu
2022 Co-Supervisor The Genetic Epidemiology of Hereditary Pancreatitis in Australia and its effects on patients of Total Pancreatectomy with Auto Islet Transplantation. Doctor of Philosophy Doctorate Full Time Mr Denghao Wu

Date Role Committee Institution Country
2019 - ongoing Co-Chair ESA Early Career Researcher Committee Endocrine Society of Australia Australia

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