Storr, Helen

Reader & Honorary Consultant in Paediatric Endocrinology

Dr Helen Storr graduated in Medicine in 1995 at the Royal London Hospital and after completion of core paediatric training; higher specialist paediatric endocrinology training was undertaken at Barts and the Royal London Hospital. She obtained a PhD in molecular endocrinology in Professor Adrian Clark’s laboratory in the William Harvey Research Institute. Her PhD research has provided preliminary data for the primary disease mechanism for the pathogenesis of the Triple A Syndrome. She was awarded a HEFCE Clinical Senior Lecturer award and was appointed as a Clinical Senior Lecturer and Honorary Consultant in Paediatric Endocrinology at Barts and the Royal London Hospital in July 2007. In 2011, she was awarded the European Society for Paediatric Endocrinology (ESPE) Young Investigator Award. In 2014, she was appointed a Reader in Paediatric Endocrinology.

Summary of Research

Paediatric Endocrinology Research

Adrenal: Ongoing work aims to elucidate the mechanism of the Triple A syndrome (AAAS) pathogenesis by establishing an in vitro disease model. Current focus is the role of oxidative stress in AAAS disease pathogenesis and its relationship with other forms of familial glucocorticoid deficiency (FGD) due to recently identified mutations in antioxidant genes (see Metherell). Other studies focus on the role of kisspeptin in the development, differentiation and function of the human fetal adrenal gland and its possible roles in the regulation of the foeto-placental unit.

Growth: I lead an international genetic diagnostic service and clinical advisory role for patients with suspected growth hormone insensitivity syndrome (GHIS). Current clinical studies and laboratory research aim to increase the understanding of disorders of the GH-IGF-1 axis and improve the future treatment of these conditions.

Childhood Cushing’s syndrome: Is an ongoing clinical research interest particularly Cushing’s disease. We have published widely on many aspects of the investigation and management of this rare disorder. Our strong links and research collaborations with the adult endocrinology department greatly facilitate the investigation and management of these complex patients.


Figure 1.
Treatment with the anti-oxidant N-acetylcysteine (NAC) improves cell viability of AAAS-knock-down cells.
A. Treatment with 1mM NAC for 48 hours significantly increases absorbance in both AAAS-knock-down (AAAS-KD) and control H295R cells (n=3). B. There is a significantly greater % increase in absorbance following treatment in the knockdown cells in comparison with controls (n=3). p< 0.05*, p< 0.01**



Figure 2.
Kiss 1R expression in the adrenal gland.
Immunofluorescence co-localisation studies of the adrenal. Localisation of CD56 (green) in the outer definitive zone (B, F) using anti-CD56. Localisation of SULT2A1 (red) in the inner foetal zone (C) using anti-SULT2A1. Localisation of Kiss1R (red) throughout the cortex (G,H) using anti-Kiss1R antibody. Scale bar 100μm.

Members of the Group

Clinical Fellows: Dr Rathi Prasad; Dr Sasha Howard; Dr Harshini; Katugampola; Dr Muriel Meso

PhD student: Dr Julia Kowalczyk

Key Publications

For a full list of publist publications click here

Storr HL, Drake WM, Evanson J et al. (2014). Endonasal endoscopic transsphenoidal pituitary surgery: early experience and outcome in paediatric Cushing's disease. Clin Endocrinol (Oxf) Vol.80, (2) 270-276. 10.1111/cen.12275
 
Prasad R, Metherell LA, Clark AJ et al. (2013). Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology Vol.154, (9) 3209-3218. 10.1210/en.2013-1241

Storr HL, Alexandraki KI, Martin L et al. (2011). Comparisons in the epidemiology, diagnostic features and cure rate by transsphenoidal surgery between paediatric and adult-onset Cushing's disease. Eur J Endocrinol Vol.164, (5) 667-674. 10.1530/EJE-10-1120
 
Prasad R, Johnston LB, Savage MO et al. (2011). Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance. J Endocrinol Invest Vol.34, (4) 296-299. 10.3275/7137
 
Chan LF, Vaidya M, Westphal B et al. (2011). Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease. Horm Res Paediatr Vol.75, (6) 441-446. 10.1159/000324419

Storr HL, Metherell LA, Dias R et al. (2010). Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation. HORM RES PAEDIAT Vol.73, (2) 1663-2818 115-119. 10.1159/000277629

Storr HL, Kind B, Parfitt DA et al. (2009). Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol Vol.23, (12) 2086-2094. 10.1210/me.2009-0056

Storr HL, Afshar F, Matson M et al. (2005). Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease. EUR J ENDOCRINOL Vol.152, (6) 0804-4643 825-833. 10.1530/eje.1.01921

Storr HL, Clark AJL, Priestley JV et al. (2005). Identification of the sites of expression of triple a syndrome mRNA in the rat using in situ hybridisation. NEUROSCIENCE Vol.131, (1) 0306-4522 113-123. 10.1016/j.neuroscience.2004.10.029

Storr HL, Mitchell H, Swords FM et al. (2004). Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia. CLIN ENDOCRINOL Vol.61, (5) 0300-0664 553-559. 10.1111/j.1365-2265.2004.02124.x
 
Storr HL, Isidori AM, Monson JP et al. (2004). Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis. J CLIN ENDOCR METAB Vol.89, (8) 0021-972X 3818-3820. 10.1210/jc.2003-031531
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