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The William Harvey Research Institute - Faculty of Medicine and Dentistry

Professor Helen Storr


Professor and Honorary Consultant in Paediatric Endocrinology

Centre: Endocrinology

Telephone: +44(0) 20 7882 6198
Twitter: @@hlstorr1


ORCID iD: 0000-0002-9963-1931 

Professor Helen Storr graduated in Medicine in 1995 at the Royal London Hospital. She trained in paediatrics before sub-specialising in paediatric endocrinology. She completed a PhD in molecular endocrinology at the William Harvey Research Institute, Barts and the London School of Medicine funded by a Wellcome Trust Research Training Fellowship. In 2006, she was awarded a HEFCE Clinical Senior Lectureship and was appointed Senior Clinical Lecturer at Queen Mary University London and Honorary Consultant in Paediatric Endocrinology at Barts and the Royal London Hospitals. Professor Storr was promoted to Academic Reader in 2014 and Professor in 2020. She was awarded the 2011 European Society for Paediatric Endocrinology (ESPE) Young Investigator Award and a 5-year NIHR Advanced Fellowship in 2019. Professor Storr is Chair of the British Society for Paediatric Endocrinology (BSPED) Awards Committee, member (and lead for growth research) of the NIHR / BSPED Clinical Studies Group (CSG) and leads the BSPED Growth disorders Special Interest Group (SIG). 

Find out more about Endocrinology research at the William Harvey Research Institute. 


Group members

  • Dr Avinaash Maharaj, Post-Doctoral Researcher
  • Dr Sumana Chatterjee, Clinical Research Fellow | PhD student
  • Dr Emily Cottrell, Clinical Research Fellow | PhD student
  • Dr Afiya Andrews, Clinical Research Fellow | PhD student
  • Dr Alexandra Da Costa, MRC Clinical Research Fellow | PhD student

Paediatric Endocrinology Research

Dr Storr’s clinical paediatric endocrine practice is broad with key clinical interests including paediatric Cushing’s syndrome, disorders of growth and puberty and adrenal disorders. She leads an active programme of clinical and laboratory research and directs an international genetic diagnostic service for patients with undiagnosed short stature. Her current research focuses on the recognition and diagnosis of growth disorders in children. She is medical advisor for the Child Growth Foundation (CGF).

Her group has developed a unique next generation sequencing gene panel for rapid and accurate genetic testing of patients with short stature. This work aims to increase the understanding of the molecular basis of growth and enhance the diagnosis, prognosis and treatment of severe short stature. For more information visit:

Professor Storr has developed a number of clinical research fellowships for paediatric endocrinology trainees at the William Harvey Research Institute, Barts and the London School of Medicine. 


  • Fellow of The Royal College of Paediatrics and Child Health (RCPCH)
  • Fellow of the Higher Education Academy (FHEA)
  • British Society of Paediatric Endocrinology and Diabetes (BSPED)
  • British Society of Paediatric Endocrinology and Diabetes (BSPED) Clinical Studies Group (CSG)(member/lead for growth research)
  • European Society of Paediatric Endocrinology (ESPE)
  • The Society for Endocrinology (SfE)
  • British Medical Association (BMA) 


2020    NIHR Advanced Fellowship
2019    European Journal of Endocrinology (EJE) Reader’s choice award - most significant contribution to the field in 2017-18
2018    British Endocrine Society (SfE BES) 2018 best poster prize
2018    Fellow of the Royal College of Paediatric and Child Health (FRCPCH)
2012 & 2015 Clinical Excellence Awards
2011    British Society of Paediatric Endocrinology (BSPED) Merck-Serono Research Prize
2011    European Society for Paediatric Endocrinology (ESPE) Young Investigator Award
2007    HEFCE Clinical Senior Lecturer Award


Key Publications

For a full list of publications click here 

  1. Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage MO, Bossowski AT,Storr HL. The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome. J Endocrinol Invest. 2020 Sep 29. doi: 10.1007/s40618-020-01433-z. Online ahead of print. PMID: 32996068. 
  2. Savage MO, Storr HL, Backeljauw PF. The continuum between GH deficiency and GH insensitivity in children. Rev Endocr Metab Disord. 2020 Oct 6. doi: 10.1007/s11154-020-09590-5. PMID: 33025383
  3. Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L, Deeb A, Al Basiri I, Rose S, Mason A, Bint S, Ahn JW, Hwa V, Metherell LA, Moore GE, Storr HL Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 Insensitivity. Eur J Endocrinol. 2020 Dec;183(6):481-48 581–595. doi:
  4. Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA, Storr HL. GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. Endocr Connect. 2020 Feb 1;9(3):211-22. doi: 10.1530/EC-20-0026. PMID: 32061156.
  5. Rubinstein G, Osswald A, Hoster E, Losa M, Elenkova A, Zacharieva S, Machado MC, Hanzu FA, Zopp S, Ritzel K, Riester A, Braun LT, Kreitschmann-Andermahr I,Storr HL, Bansal P, Barahona MJ, Cosaro E, Dogansen SC, Johnston PC, Santos de Oliveira R, Raftopoulos C, Scaroni C, Valassi E, van der Werff SJA, Schopohl J, Beuschlein F, Reincke M. Time to diagnosis in Cushing's syndrome: A meta-analysis based on 5367 patients. J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgz136. doi: 10.1210/clinem/dgz136. PMID: 31665382.
  6. Tufton N, Shapiro L, Sahdev A, Kumar AV, Martin L, Drake WM, Akker SA, Storr HL. An analysis of surveillance screening for SDHB-related disease in childhood and adolescence. Endocr Connect. 2019 Mar 1;8(3):162-172. doi: 10.1530/EC-18-0522.
  7. Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V. Non-classical growth hormone (GH) insensitivity: characterization of mild abnormalities of GH action. Endo Rev 2019 Apr 1;40(2):476-505. doi: 10.1210/er.2018-00146.
  8. Prete FP, Abdel-Aziz T, Morkane C, Brain C, Kurzawinski TR; MEN2 in Children UK Collaborative Group. Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. Br J Surg. 2018 Sep;105(10):1319-1327. doi: 10.1002/bjs.10856.
  9. Marques P, Barry S, Ronaldson A, Ogilvie A, Storr HL, Goadsby PJ, Powell M, Dang MN, Chahal HS, Evanson J, Kumar AV, Grieve J, Korbonits M. Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIPMutation-Positive Family. Int J Endocrinol. 2018 Apr 4;2018:8581626. doi: 10.1155/2018/8581626.
  10. Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U, Dias R, Savage MO, Metherell LA, Storr HL.. Phenotypic spectrum and responses to recombinant human igf1 (rhigf1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. Eur J Endocrinol. 2018 May;178(5):481-489. doi: 10.1530/EJE-18-0042.
    * European Journal of Endocrinology (EJE) Reader’s choice award – most significant contribution to the field in 2017-18
  11. Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U, Ziegler CG, Storr HL, Druce MR, Gevers EF, Drake WM, Srirangalingam U, Conway GS, King PJ, Metherell LA, Bornstein SR, Guasti L. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. Cell Rep. 2018 Jan 30;22(5):1236-1249. doi: 10.1016/j.celrep.2018.01.003.
  12. Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL. Whole exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. Eur J Endocrinol 2017 Dec;177(6):485-501.
  13. Katugampola H, King PJ, Chatterjee S, Meso M, Elahi S, Guasti L, Duncan A, Achermann JC, Ghatore L, Taylor N, Allen RE, Marlene S, Aquilina J, Abbara A, Jaysena CN, Dhillo WS, Dunkel L, Sankilampi U Storr HL. Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3349-3359.
  14. Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. J Clin Invest. 2017 Mar 1;127(3):942-953.
  15. Yordanova G, Martin L, Afshar F, Sabin I, Alusi G, Plowman NP, Riddoch F, Evanson J, Matson M, Grossman AB, Akker SA, Monson JP, Drake WM, Savage MO, Storr HL. Long-term outcomes of children treated for Cushing's disease: a single center experience. Pituitary. 2016 Dec;19(6):612-624.
  16. Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L, Berney D, Monson J, Chew SL, Waterhouse M, Druce M, Korbonits M, Metcalfe K, Drake WM, Storr HL, Akker SA. Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers. Clin Endocrinol (Oxf). 2017 Feb;86(2):286-296
  17. P Le Quesne Stabej, H Williams, C James, M Tekman, HC Stanescu, R Kleta, L Ocaka, F Lescai, HL Storr, GOSgene, M Bitner-Glindzicz, C Bacchelli, GS Conway. STAG3 truncating mutation as the cause of primary ovarian insufficiency. European Journal of Human Genetics. Eur J Hum Genet. 2016 Jan;24(1):135-8
  18. HL Storr, MO Savage. Management of Endocrine Disease: Paediatric Cushing’s disease. Eur J Endocrinol. 2015 Jul;173(1):R35-R45. Review.
  19. HL Storr, L Dunkel, J Kowalczyk, MO Savage, LA Metherell. Genetic characterisation of a selected cohort of children with short stature and features of growth hormone insensitivity: diagnostic value of serum IGF-1 and height at presentation. Eur J Endocrinol. 2015; Nov 1;27(11-12):1029-31.
  20. HL Storr, R Prasad, IK Temple, LA Metherell, MO Savage, JM Walker. Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency. J Endocrinol Invest. 2015 Apr;38(4):407-12.
  21. R Prasad, LF Chan, CR Hughes, JP Kaski, JC Kowalczyk, MO Savage, CJ Peters, N Nathwani, AJL Clark, HL Storr*, LA Metherell*. *Equal contribution. Thioredoxin reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab. 2014 Aug;99(8):E1556-63.
  22. F Guaraldi, HL Storr, L Ghizzoni, E Ghigo, MO Savage. Paediatric pituitary adenomas: a decade of change. Res. Paediatr. 2014; 81(3):145-55.
  23. R Prasad, LA Metherell, AJ Clark, HL Storr. Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology. 2013; 154(9):3209-18.
  24. Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJ. Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol. 2009 Dec;23(12):2086-94.
  25. Storr HL, Afshar F, Matson M, Sabin I, Davies KM, Evanson J, Plowman PN, Besser GM, Monson JP, Grossman AB, Savage MO. Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease. Eur J Endocrinol. 2005 Jun;152(6):825-833.
  26. Storr HL, Clark AJ, Priestley JV, Michael GJ. Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation. Neuroscience. 2005;131(1):113-123.
  27. Storr HL, Mitchell H, Swords FM, Main KM, Hindmarsh PC, Betts PR, Shaw NJ, Johnston DI, Clark AJ, Reznek RH, Grossman AB, Savage MO. Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia. Clin Endocrinol. 2004 Nov;61(5):553-559.
  28. Storr HL, Isidori AM, Monson JP, Besser GM, Grossman AB, Savage MO. Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis. J Clin Endocrinol Metab. 2004 Aug;89(8):3818-3820.
  29. Storr HL, Plowman PN, Carroll PV, François I, Krassas GE, Afshar F, Besser GM, Grossman AB, Savage MO. Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease: an effective second-line treatment. J Clin Endocrinol Metab. 2003 Jan;88(1):34-37.




  • Dr Vivian Hwa (Cincinnatti Center for Growth disorders)
  • Professor Andrew Dauber (Children's National Medical Center, Washington)
  • Dr Christiaan De Bruin (Leiden Growth Genetics Group)
  • Professor Gudrun Moore (UCL GOSH Institute of Child Health)
  • Professor Peter Clayton (University of Manchester)
  • Professor Karen Temple, Professor Deborah Mackay, Dr Justin Davies (Imprinting disorders group, University of Southampton)
  • Professors Thomas Klonisch and Sabine Hombach-Klonisch (University of Manitoba, Canada)
  • Professor Bill Skarnes (The Jackson Laboratory for Genomic Medicine |The Wellcome Trust Sanger Institute)


September 2020: Articles accepted in European Journal of Endocrinology and Journal of Endocrinological Investigation:

April 2020: Barts Charity Clinical Research Fellowship awarded to Dr Emily Cottrell Characterising novel genetic causes of growth failure”

September 2019: Grant for Growth innovation 2019 awarded to Professor Helen Storr 

July 2019: European Journal of Endocrinology (EJE) Reader’s choice award – most significant contribution to the field in 2017-18 for Chatterjee S. et al. Phenotypic spectrum and responses to recombinant human IGF-1 (rhIGF-1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. Eur J Endocrinol. 2018 May;178(5):481-489.

September 2018: The European Society for Paediatric Endocrinology (ESPE) 2018 Research Fellowship awarded to Dr Emily Cottrell Characterisation of novel genetic causes of growth failure”

March 2017: MRC Clinical Research Training Fellowship awarded to Dr Alex Da Costa “Modelling the molecular pathogenesis of AAAS with iPSC-derived neurons and adrenocortical cells”


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