Storr, Helen

Reader & Honorary Consultant in Paediatric Endocrinology

Dr Helen Storr graduated in Medicine in 1995 at the Royal London Hospital. She trained in paediatrics before sub-specialising in paediatric endocrinology under the supervision of Professor Martin Savage. 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 appointed Senior Clinical Lecturer and Honorary Consultant in Paediatric Endocrinology at Barts and the Royal London Hospital. In 2011, she was awarded the European Society for Paediatric Endocrinology (ESPE) Young Investigator Award and in 2014, she was promoted to Reader in Paediatric Endocrinology.

Summary of Research

Paediatric Endocrinology Research

Her 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 severe short stature. Her research focuses on the molecular basis of adrenal disorders and the genetic mechanisms of growth.

Her current work aims to elucidate the molecular pathogenesis of the Triple A syndrome (AAAS) using induced pluripotent stem cell-derived neurons and adrenocortical cells. Her group have also recently developed a unique next generation sequencing gene panel for rapid and accurate genetic testing of patients with severe short stature. This work aims to increase the understanding of the molecular basis of growth and enhance the prognosis and treatment of severe short stature.

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



Figure 1. Genetic Diagnoses in a cohort of GH (GHI) and IGF-1 insensitivity patients. Genetic diagnoses in a cohort of 107 GHI (n=96) and IGF-1 insensitivity patients (n=11) by candidate gene sequencing (CGS; clinically driven approach) and by all modalities (CGS, molecular testing for Silver-Russell syndrome (SRS) and whole exome sequencing). GH-IGF-1 axis genes: GHR, growth hormone receptor; IGFALS, insulin-like growth factor acid labile subunit; IGF1R, IGF-1 receptor. 3M syndrome genes: OBSL1, obscurin like 1; CUL7, cullin 7; CCDC8 coiled-coil domain-containing 8. Genes associated with Noonan syndrome: PTPN11, protein-tyrosine phosphatase non-receptor type 11; SOS1, son of sevenless homolog 1.


Figure 2. Patients with identified genetic defects were significantly shorter compared to those with no genetic diagnosis. Height SDS in a cohort of GH (GHI) and IGF-1 insensitivity patients with a genetic diagnosis and with no genetic diagnosis (GHI patients, n=96; IGF-1 insensitivity patients, n=11). Patients with a genetic diagnosis n=52, undiagnosed patients n=55;  p = 0.0001. 

Figure 3. Expression of Kiss1R in the developing human fetal adrenal (HFA) cortex. Co-localization studies of HFA at 12wpc (panels a-c). CD56 (green) is expressed in the outer DZ/TZ (panels a & b) and SULT2A1 (red) in the inner FZ (panel b). Kiss1R (red) is seen throughout the cortex (FZ and DZ) (panel a). No immunoreactivity is detected in the negative controls where the primary antibodies (CD56 and SULT2A1) were omitted (panel c, CD56-con, SULT2A1-con). The capsule is shown (dashed line). Scale bar:  100μm.

Figure 4. Human fetal adrenal gland volumes (FAV) and kisspeptin levels in the maternal circulation during pregnancy. The correlation between the kisspeptin level at the 1st visit and the increase in FAV between the 1st and 2nd antenatal visits (19-20 and 26-28 weeks gestation, respectively). r, pearson coefficient.


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


  • 2012 & 2015 Clinical Excellence Awards
  • 2011 British Society of Paediatric Endocrinology (BSPED) Merck-Serono Prize
  • 2011 European Society for Paediatric Endocrinology (ESPE) Young Investigator Award
  • 2007 HEFCE Clinical Senior Lecturer Award

Members of the Group

  • Dr Sumana Chatterjee, Clinical Research Fellow
  • Dr Emily Cotterill, Clinical Research Fellow
  • Dr Alexandra Da Costa, MRC Clinical Research Fellow
  • Dr Lucy Shapiro, Clinical Research Fellow
  • Dr Ingrid Wilkinson, Clinical Research Fellow 

Key Publications

For a full list of publist publications click here

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 (in press).

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. doi: 10.1172/JCI90171.

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.

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

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

HL Storr, MO Savage. Management of Endocrine Disease: Paediatric Cushing’s disease. Eur J Endocrinol. 2015 Jul;173(1):R35-R45. Review.

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.

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.

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.

F Guaraldi, HL Storr, L Ghizzoni, E Ghigo, MO Savage. Paediatric pituitary adenomas: a decade of change. Res. Paediatr. 2014; 81(3):145-55.

Prasad, L.A. Metherell, A.J. Clark, H.L. Storr. Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology. 2013; 154(9):3209-18.

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.

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.

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.

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.

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.

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.  

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