Dr Sasha Howard, MBBS, MSc, MRCPCH, PhD

Profile

ORCID ID: 0000-0002-6698-903X

Dr Sasha Howard graduated in Medicine from the University of Cambridge (preclinical medicine, 1st class honors) and University College London (MBBS, distinction) in 2004. She trained in Paediatrics before sub-specialising in Paediatric Endocrinology at Barts Health, UCLH and Great Ormond Street Hospitals. 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 and a Barts Charity Clinical Training Fellowship. She was awarded the 2015 Henning Andersen prize for Paediatric Endocrinology (ESPE) and 2016 1st Oral Plenary Prize at the Academy of Medical Sciences Spring Meeting for Clinician Scientists. In 2017 she won a 4-year NIHR clinical lectureship alongside an Academy of Medical Sciences starter grant to continue her research into disorders of human pubertal timing. She was awarded a Wellcome Trust Clinical Research Career Development Fellowship, stage 1 in 2021 and appointed Senior Lecturer at Queen Mary University of London and Honorary Consultant in Paediatric Endocrinology at Barts Health NHS Trust. In August 2024, she was promoted to Clinical Reader (Associate Professor).

Dr Howard is Integrated Academic Training lead for the Specialised Foundation Programme, QMUL. Dr Howard is senior lead for the pan-London paediatric research network REACH. She is a member of the European Society for Paediatric Endocrinology (ESPE) programme organising committee and Paediatric and Adolescent Gynaecology Working Group, and of the NIHR / BSPED Clinical Studies Group (CSG) and Co-PI of the Barts Pituitary Centre.

Memberships

• The Royal College of Paediatrics and Child Health (RCPCH)
• British Society of Paediatric Endocrinology and Diabetes (BSPED)
• British Society of Paediatric Endocrinology and Diabetes (BSPED) Clinical Studies Group (CSG)
• European Society of Paediatric Endocrinology (ESPE)
• The Society for Endocrinology (SfE)
• American Endocrine Society (ENDO)
• British Medical Association (BMA) 
  

Awards

• 2024 NIHR Efficacy and Mechanism Evaluation grant
• 2024 HARP Wellcome DTP Fellowship to Dr R Varughese
• 2023 Rosetrees Trust Major Project grant 
• 2023 ESPE Research Unit      
• 2023 ESPE Early Career Scientific Development Grant Dr F D’Aniello
• 2023 Society for Endocrinology, Early Career Grant  to Dr J Read
• 2023 British Society of Neuroendocrinology, Project Grant to Dr J Read
• 2023 Isaac Shapera Medical Trust, IAT award for SFP to Dr Y Aung
• 2023 NIHR IAT award for ACF to Dr E Alexander 
• 2023 FinRett Project Grant  
• 2022 British Society of Neuroendocrinology, Student Project Grant
• 2021 British Society of Paediatric Endocrinology and Diabetes Research and Development Award
• 2021 British Society of Neuroendocrinology, Project Grant
• 2021 Wellcome Trust Clinical Research Career Development Fellowship Stage 1
• 2021 Barts Charity Large Programme Grant
• 2018 Academy of Medical Sciences CL Starter Grant
• 2018 Rosetrees Trust Award
• 2017 NIHR Academic Clinical Lectureship
• 2014 Wellcome Trust Pre-Doctoral Research Training Fellowship
• 2012   Rosetrees Trust Award
• 2012   Barts and the London Charity Clinical Training Fellowship 

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

Research

Group members

• Dr Jordan Read (PDRA); Dr Yasmin Al-Sayed (PDRA); Dr Charlotte Hall (PDRA Bioinformatician); Mr Saleh Momeni (PhD student); Dr Rachel Varughese (Clinical Research Fellow); Dr Sebastian Castro (ESPE Early Scientific Career Fellow)

Close collaborators

• Dr Leonardo Guasti (Reader in Endocrinology); Professor Leo Dunkel (Professor of Paediatric Endocrinology); Dr Alessia David (Imperial College London); Dr Ali Abbara (Imperial College London); Professor Mehul Dattani (Great Ormond Street Hospital for Children and ICH-UCL)

Alumni

• Dr Tansit Saengkaew, (PhD Student, now Assistant Professor of Paediatric Endocrinology and Medical instructor, Prince of Songkla University, Thailand); Dr Alessandra Mancini (PhD student, now postdoc at Harvard University); Ms Matilde Ciaroni (Erasmus student, now in Industry); Dr Yuri Aung (SFP); Dr Kyla Ng Yin (SFP); Dr Emma Alexander (Academic Clinical Fellow); Dr Francesco D'Aniello (ESPE Early Scientific Career Fellow); Dr Sophie Rhys-Evans (Specialist Foundation Programme Fellow)

Summary

Dr Howard’s research is focused on optimising the diagnosis and management of patients with pubertal disorders. She is clinically active as an Honorary Consultant Paediatric Endocrinologist at Barts Health, running specialist puberty services and have developed national guidelines for the management of pubertal disorders.

Puberty is the period of physical and psychological change from a child to an adult. Disorders of pubertal timing affect 4% of children, comprising significantly precocious (before 8yrs of age [>2 standard deviations below the mean population age]) or delayed (after 14yrs of age [>2 standard deviations above the mean age]) pubertal onset.

These common disorders are associated with adverse long-term health outcomes. Precocious puberty is associated with an increased risk of obesity, type 2 diabetes, and breast cancer, and delayed puberty is associated with psychosocial comorbidities and reduced bone density. Both are associated with early menopause or andropause.

While we know that these conditions are often inherited in families, we still understand very little about how they occur, and which gene changes are responsible. Currently, it can be difficult to distinguish which patients with early or late puberty need intensive treatment and follow up. 

Genetics of Disordered Puberty Project (CPMS ID 30730, PI Dr Sasha Howard): our aim is to identify genetic mutations that cause Central Precocious Puberty (CPP) and Delayed Puberty (DP). To achieve this, we utilise various genetic testing methods to diagnose patients that have been referred to us. So far, our cohort of referrals stands at >130 patients in whom we have found a genetic diagnosis in 28%.

If you have a patient with suspected CPP or DP please get in contact and we will endeavour to provide you with a genetic diagnosis completely free of charge. 

Important: We are a purely research-based group and therefore all genetic diagnoses may have to be validated by a NHS or nationally accredited facility.

Genetics of the timing of puberty

Figure 1. Genetics of the timing of puberty.  The precise genetic causes of the extreme tails of normal puberty are unclear, as is the basis of association of specific gene variants with pubertal timing in the general population (outside of families with GnRH deficiency or self-limited delayed puberty). Understanding the role(s) of gene variants influencing the timing of puberty, both precocious and delayed, is expected to contribute to the understanding of the biological control of human pubertal timing both in disease and in the general population. This knowledge could directly help patients through improved diagnostic ease and facilitate identification of gene-environmental interactions. Based on the observed inheritance pattern, we hypothesize that families with inherited self-limited delay in growth and puberty are enriched for genetic variants that have high-impact on pubertal timing and, that these variants are amenable to discovery using modern molecular genetic tools. Recently, we have discovered evidence that such high impact variants may influence the timing of puberty, significantly delaying the onset of puberty in a subset of families.

Figure 2. The genetic basis of delayed puberty. Previously identified genes implicated in the pathogenesis of self-limited delayed puberty are related to GnRH neuron development, up- and downstream GnRH function, and energy metabolism; KNDy - kisspeptin-neurokinin-dynorphin.

Figure 3. Working model of how mutations in genes such as IGSF10 led to delayed puberty. Reduced IGSF10 expression during embryogenesis in the corridor of nasal mesenchyme cells of the vomeronasal organ (VNO) leading to the olfactory bulbs delays the migration of gonadotropin-releasing hormone (GnRH) neurons to the hypothalamus. This reduction manifests in adolescence as a phenotype of delayed puberty due to abnormalities of GnRH neuronal network function.

Management of Central Hypogonadism in Children

The management of male infertility is very challenging, particularly in severe forms of hormone deficiency. These hormones are specific signals produced by the brain, which direct development of the testicles or ovaries. Patients who are unable to produce these signals (named ‘gonadotropin hormones’) have a condition called gonadotropin deficiency (GD).
For males with GD medical therapy for fertility is often unsuccessful. This is because hormones drive the development of the testicles in infancy and at puberty, a process vital to enable later sperm production. Despite adult hormone replacement, individuals may suffer infertility, in addition to chronic health and psychological issues.

Standard treatment for lack of puberty in adolescent males with GD is with testosterone. This helps with physical development, but not with testicular development or sperm production. Views of patient and their carers highlights the importance for young men with GD of adequate pubertal development, testicular maturity and the ability to make sperm.
In contrast, replacement of gonadotropin hormones enables physical maturity and the growth spurt, as well as specific testicular growth, to occur during puberty. These medications are currently used in adult patients with GD within fertility services, but can be used in puberty to allow reproductive development at the appropriate age.

Our team are leading on a proposal for the PinG study, to assess the clinical effectiveness of Pubertal Induction with Gonadotropins in Adolescent and Young Adult Males with Gonadotropin Deficiency (grant applications in progress 2023).

Publications

• Dunkel L, Saengkaew T, Howard SR (2024). Disorders of Puberty and Their Management. nameOfConference

  
  

  DOI: 10.1007/978-3-030-23709-7_6

  
  

  QMRO: qmroHref
• Read JE, Vasile‐Tudorache A, Newsome A et al. (2024). Disorders of puberty and neurodevelopment: A shared etiology?. nameOfConference

  
  

  DOI: 10.1111/nyas.15246

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/100734
• d'Aniello F, Mariniello K, Al Sayed Y et al. (2024). The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation. nameOfConference

  
  

  DOI: 10.1159/000541554

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/100739
• He W, Schafer EC, Brauner R et al. (2024). 12330 Rare Variants in SEMA3A in Individuals with Constitutional Delay of Puberty (CDP). nameOfConference

  
  

  DOI: 10.1210/jendso/bvae163.1745

  
  

  QMRO: qmroHref
• He W, Schafer EC, Brauner R et al. (2024). 6846 Rare Variants in SEMA3A in Individuals with Constitutional Delay of Puberty (CDP). nameOfConference

  
  

  DOI: 10.1210/jendso/bvae163.1658

  
  

  QMRO: qmroHref
• Aslam AA, Lim S, Willemsen R et al. (2024). 7640 The first description of an MC4R variant in a patient with Kallmann syndrome and obesity. nameOfConference

  
  

  DOI: 10.1210/jendso/bvae163.1348

  
  

  QMRO: qmroHref
• A AA, Lim S, Willemsen RH et al. (publicationYear). First description of kisspeptin unresponsive hypogonadotrophic hypogonadism, anosmia with olfactory hypoplasia (kallmann syndrome) and obesity due to an MC4R variant. nameOfConference

  
  

  DOI: 10.1530/endoabs.103.p107

  
  

  QMRO: qmroHref
• Castro S, Brungs R, Gevers E et al. (publicationYear). Minipuberty: a golden phase for optimal treatment. recombinant gonadotropin therapy during minipuberty in males with hypogonadotropic hypogonadism: a case series. nameOfConference

  
  

  DOI: 10.1530/endoabs.103.oc5.2

  
  

  QMRO: qmroHref
• De Silva N, Howard SR, O'Sullivan J et al. (2024). Gonadotropin treatment of cryptorchidism in congenital hypogonadotropic hypogonadism—Age is no limit?. nameOfConference

  
  

  DOI: 10.1111/cen.15117

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/100550
• Rhys‐Evans S, Howard SR (2024). Combined gonadotropin therapy to replace mini‐puberty in male infants with congenital hypogonadotropic hypogonadism. nameOfConference

  
  

  DOI: 10.1111/nyas.15177

  
  

  QMRO: qmroHref
• Tsoutsouki J, Comninos AN, Phylactou M et al. (publicationYear). Making scents of hemi-anosmia in a woman presenting with secondary amenorrhoea. nameOfConference

  
  

  DOI: 10.1530/endoabs.100.oc1

  
  

  QMRO: qmroHref
• Tsoutsouki J, N CA, Phylactou M et al. (publicationYear). Endocrine responses to kisspeptin in an unusual case of kallmann syndrome with unilateral anosmia. nameOfConference

  
  

  DOI: 10.1530/endoabs.99.p551

  
  

  QMRO: qmroHref
• Lippincott MF, Schafer EC, Hindman AA et al. (2024). Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism. nameOfConference

  
  

  DOI: 10.1210/clinem/dgae166

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/99098
• Rohayem J, Alexander EC, Heger S et al. (2024). Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement. nameOfConference

  
  

  DOI: 10.1210/endrev/bnae003

  
  

  QMRO: qmroHref
• Howard SR (2024). Delayed puberty and hypogonadism; Female. nameOfConference

  
  

  DOI: 10.1016/b978-0-443-13825-6.00116-3

  
  

  QMRO: qmroHref
• Alexander EC, Faruqi D, Farquhar R et al. (2024). Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis. nameOfConference

  
  

  DOI: 10.1093/ejendo/lvad166

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/94409
• Hoskyns RB, Howard SR (2024). Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review. nameOfConference

  
  

  DOI: 10.1515/jpem-2023-0507

  
  

  QMRO: qmroHref
• Lettieri A, Oleari R, van den Munkhof MH et al. (publicationYear). SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability. nameOfConference

  
  

  DOI: 10.1038/s41467-023-43820-z

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/93084
• Howard SR, Quinton R (2024). Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty. nameOfConference

  
  

  DOI: 10.1515/jpem-2023-0407

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/94411
• d'Aniello F, Aung Y, Kokotsis V et al. (publicationYear). Can clinical, biochemical and genetic parameters help distinguish congenital hypogonadotrophic hypogonadism from self-limited delayed puberty?. nameOfConference

  
  

  DOI: 10.1530/endoabs.95.oc5.6

  
  

  QMRO: qmroHref
• Read J, Guasti L, Paganoni A et al. (publicationYear). Rare variants in the MECP2 gene in girls with central precocious puberty. nameOfConference

  
  

  DOI: 10.1530/endoabs.95.oc8.2

  
  

  QMRO: qmroHref
• Alexander E, Yin KN, Faruqi D et al. (publicationYear). Systematic review and meta-analysis of spermatogenesis rates after pubertal induction with gonadotropins in males with hypogonadotropic hypogonadism. nameOfConference

  
  

  DOI: 10.1530/endoabs.95.p40

  
  

  QMRO: qmroHref
• Aung Y, Kokotsis V, Yin KN et al. (publicationYear). Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism. nameOfConference

  
  

  DOI: 10.3389/fendo.2023.1226839

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/91106
• Canton APM, Tinano FR, Guasti L et al. (2023). Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study. nameOfConference

  
  

  DOI: 10.1016/s2213-8587(23)00131-6

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89521
• Duckett K, Williamson A, Kincaid JWR et al. (2023). Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty. nameOfConference

  
  

  DOI: 10.1210/clinem/dgad373

  
  

  QMRO: qmroHref
• Mistry JN, Silvennoinen S, Zaman F et al. (publicationYear). The crosstalk between FGF21 and GH leads to weakened GH receptor signaling and IGF1 expression and is associated with growth failure in very preterm infants. nameOfConference

  
  

  DOI: 10.3389/fendo.2023.1105602

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/87940
• Alexander E, Faruqi D, Farquhar R et al. (publicationYear). A systematic review of gonadotropin and GnRH therapy for the induction or completion of puberty in males with hypogonadotropic hypogonadism. nameOfConference

  
  

  DOI: 10.1530/endoabs.90.p715

  
  

  QMRO: qmroHref
• Sanpawithayakul K, Howard S, Korbonits M (publicationYear). Kisspeptin Kindred: Case Report and Literature Review. nameOfConference

  
  

  DOI: 10.1530/endoabs.90.ep713

  
  

  QMRO: qmroHref
• Aung Y, Kokotsis V, Howard S (publicationYear). Phenotypic and genotypic variation in pubertal presentation among patients with self-limited delayed puberty and hypogonadotrophic hypogonadism. nameOfConference

  
  

  DOI: 10.1530/endoabs.90.p717

  
  

  QMRO: qmroHref
• Dunkel L, Saengkaew T, Howard SR (2023). Disorders of Puberty and Their Management. nameOfConference

  
  

  DOI: 10.1007/978-3-030-18901-3_6-1

  
  

  QMRO: qmroHref
• Oleari R, Lettieri A, Manzini S et al. (2023). Combined omic analyses reveal autism-linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease. nameOfConference

  
  

  DOI: 10.1242/dmm.049996

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85398
• Howard SR, Fanis P, Nicolaides NC et al. (publicationYear). Editorial: Genetic, epigenetic and molecular landscaping of puberty. nameOfConference

  
  

  DOI: 10.3389/fendo.2023.1178888

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85400
• Rezende R, Schafer E, Kaisinger L et al. (2023). Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85725
• Al Sayed Y, Howard SR (2023). Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective. nameOfConference

  
  

  DOI: 10.1038/s41431-022-01261-0

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85399
• Canton A, Tinano F, Guasti L et al. (2022). RF14 | PSAT120 X-Linked Central Precocious Puberty Associated with MECP2 Defects. nameOfConference

  
  

  DOI: 10.1210/jendso/bvac150.1331

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/83874
• E RJ, Pinheiro-Machado CA, Tinano F et al. (publicationYear). Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty. nameOfConference

  
  

  DOI: 10.1530/endoabs.86.p343

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/83878
• Kokotsis V, Burchett C, Butler G et al. (publicationYear). Central Delayed Puberty in Adolescence: Differentiating the phenotypes of Congenital Hypogonadotropic Hypogonadism and Self-Limited Delayed Puberty. nameOfConference

  
  

  DOI: 10.1530/endoabs.85.oc5.2

  
  

  QMRO: qmroHref
• Dunkel L, Prasad R, Martin L et al. (publicationYear). UK protocol for induction of puberty with gonadotropins in males with hypogonadotropic hypogonadism. nameOfConference

  
  

  DOI: 10.1530/endoabs.85.oc5.3

  
  

  QMRO: qmroHref
• Howard SR, Freeston S, Harrison B et al. (2022). Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline. nameOfConference

  
  

  DOI: 10.1530/erc-22-0035

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/79319
• Howard SR, Kurzawinski TR, Gaze MN (2022). New UK guidelines for differentiated thyroid cancer in children. nameOfConference

  
  

  DOI: 10.1093/bjs/znac281

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/80207
• Oleari R, Lettieri A, J.J. PA et al. (publicationYear). Combined omic analysis revealed autism-linked NLGN3as new candidate gene associated to GnRH neuron development and disease. nameOfConference

  
  

  DOI: 10.1530/endoabs.81.ep870

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/78823
• Oleari R, Lettieri A, Manzini S et al. (2022). A combined omic analysis revealed autism-linked NLGN3 as a new candidate gene associated to GnRH neuron development and disease. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/78824
• Martin BS, Howard SR, Hughes CR et al. (2022). Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/82028
• Howard S (2022). Differential diagnosis of pubertal delay in girls What's new?. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/82359
• Canton A, Tinano F, Guasti L et al. (2022). X-Linked Central Precocious Puberty Associated with MECP2 defects. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/82180
• Saengkaew T, Ruiz-Babot G, David A et al. (publicationYear). Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty. nameOfConference

  
  

  DOI: 10.1038/s41525-021-00274-w

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/76132
• Howard S, Saengkaew T, Dunkel L et al. (publicationYear). Dominant mutations in CCDC141 are found by ehole rxome dequencing to be a common cause of self-limited delayed puberty. nameOfConference

  
  

  DOI: 10.1530/endoabs.78.oc4.1

  
  

  QMRO: qmroHref
• Saengkaew T, Howard SR (2022). Genetics of pubertal delay. nameOfConference

  
  

  DOI: 10.1111/cen.14606

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74661
• Saengkaew T, Patel HR, Banerjee K et al. (publicationYear). Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty. nameOfConference

  
  

  DOI: 10.1530/eje-21-0387

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/73704
• Howard SR (2021). Interpretation of reproductive hormones before, during and after the pubertal transition—Identifying health and disordered puberty. nameOfConference

  
  

  DOI: 10.1111/cen.14578

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/73698
• Saengkaew T, Mancini A, Ruiz-Babot G et al. (2021). Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty. nameOfConference

  
  

  DOI: 10.1210/jendso/bvab048.1358

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/71870
• Saengkaew T, Dunkel L, Howard SR (2021). Role of Genetic Analysis for the Differential Diagnosis of Delayed Puberty from the UK Puberty Cohort. nameOfConference

  
  

  DOI: 10.1210/jendso/bvab048.1366

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/71899
• Howard S (2021). Delayed puberty: A genetic condition?. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74666
• Saengkaew T, Howard SR (2020). Next-generation sequencing approach in the diagnosis of delayed puberty. nameOfConference

  
  

  DOI: 10.1016/j.coemr.2020.05.003

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66556
• Mancini A, Howard SR, Marelli F et al. (2020). LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling. nameOfConference

  
  

  DOI: 10.1172/jci.insight.133434

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65142
• Phylactou M, Abbara A, Eng PC et al. (publicationYear). Should SHBG be measured in every patient before diagnosing hypogonadotrophic hypogonadism?. nameOfConference

  
  

  DOI: 10.1530/endoabs.69.oc9

  
  

  QMRO: qmroHref
• Mancini A, Howard SR, Cabrera CP et al. (publicationYear). Defects in LGR4 Wnt-[beta]-catenin signalling impair GnRH network development, leading to delayed puberty. nameOfConference

  
  

  DOI: 10.1530/endoabs.66.oc4.3

  
  

  QMRO: qmroHref
• Howard S, de Roux N, Leger J et al. (2019). Puberty and its disorders. nameOfConference

  
  

  DOI: 10.1002/9781119152712.ch7

  
  

  QMRO: qmroHref
• Howard SR (2019). Genetic regulation in pubertal delay. nameOfConference

  
  

  DOI: 10.1530/jme-19-0130

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/63083
• A M, SR H, CP C et al. (publicationYear). EAP1 regulation of GnRH promoter activity is important for human pubertal timing. nameOfConference

  
  

  DOI: 10.1530/ey.16.7.5

  
  

  QMRO: qmroHref
• SR H, R O, A P et al. (publicationYear). HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes. nameOfConference

  
  

  DOI: 10.1530/ey.16.7.4

  
  

  QMRO: qmroHref
• Howard SR (publicationYear). The Genetic Basis of Delayed Puberty. nameOfConference

  
  

  DOI: 10.3389/fendo.2019.00423

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/59398
• Howard S, Cabrera C, Barnes M et al. (2019). MON-LB048 Delayed or Absent? Use of Next Generation Sequencing Diagnostic Tools in a UK Puberty Cohort. nameOfConference

  
  

  DOI: 10.1210/js.2019-mon-lb048

  
  

  QMRO: qmroHref
• Howard S, Cabrera C, Barnes M et al. (2019). MON-LB048 Delayed or Absent? Use of Next Generation Sequencing Diagnostic Tools in a UK Puberty Cohort. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Howard SR, Dunkel L (2019). Delayed Puberty – Phenotypic Diversity, Molecular Genetic Mechanisms and Recent Discoveries. nameOfConference

  
  

  DOI: 10.1210/er.2018-00248

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/59136
• Howard S, Dunkel L (2019). Genetics of Delayed Puberty. nameOfConference

  
  

  DOI: 10.1007/978-3-030-11339-1_13

  
  

  QMRO: qmroHref
• Mancini A, Howard SR, Cabrera CP et al. (2019). EAP1 regulation of GnRH promoter activity is important for human pubertal timing. nameOfConference

  
  

  DOI: 10.1093/hmg/ddy451

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/55065
• Saengkaew T, Mancini A, Ruiz-Babot G et al. (2019). Defects in the GnRH Neuroendocrine Network Affect the Timing of Puberty. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/69228
• Mancini A, Howard SR, Cabrera CP et al. (2019). LGR 4-Wnt β-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/69227
• Howard SR, Cabrera CP, Barnes MR et al. (publicationYear). Delayed or Absent? - use of next generation sequencing diagnostic tools in a UK puberty cohort. nameOfConference

  
  

  DOI: 10.1530/endoabs.58.oc4.5

  
  

  QMRO: qmroHref
• Howard SR, Oleari R, Poliandri A et al. (2018). HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes. nameOfConference

  
  

  DOI: 10.1210/jc.2018-00646

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/42223
• Howard S, Dunkel L (2018). ‘Management of Hypogonadism From Birth to Adolescence’ for Best Practice and Research Clinical Endocrinology and Metabolism. nameOfConference

  
  

  DOI: 10.1016/j.beem.2018.05.011

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/40963
• HOWARD - HALL SRR (2018). Genes underlying delayed puberty. nameOfConference

  
  

  DOI: 10.1016/j.mce.2018.05.001

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/40083
• Cassatella D, Howard SR, Acierno JS et al. (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. nameOfConference

  
  

  DOI: 10.1530/eje-17-0568

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/36683
• Mancini A, Howard SR, Cabrera CP et al. (2018). EAP1 Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter That Leads to Self-Limited Delayed Puberty. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/69230
• Howard S, Dunkel L (2018). Delayed Puberty and Hypogonadism, Female. nameOfConference

  
  

  DOI: 10.1016/b978-0-12-801238-3.03882-4

  
  

  QMRO: qmroHref
• Howard S, Dunkel L (2018). Delayed puberty and hypogonadism; female. nameOfConference

  
  

  DOI: 10.1016/B978-0-12-801238-3.03882-4

  
  

  QMRO: qmroHref
• Howard S, Newbold K, Freeston S et al. (2018). Guidelines for the Management of Paediatric Differentiated Thyroid Carcinoma; A UK Endeavour. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Howard S, Oleari R, Mancini A et al. (2018). Role of GnRH Neuronal Migration and Development in Self-Limited Delayed Puberty. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/69229
• Howard SR, Guasti L, Poliandri A et al. (2018). Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty. nameOfConference

  
  

  DOI: 10.1210/jc.2017-02147

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/32184
• Howard S, Andre V, Guasti L et al. (publicationYear). Patients with self-limited delayed puberty harbour mutations in multiple genes controlling GnRH neuronal development. nameOfConference

  
  

  DOI: 10.1530/endoabs.51.oc4.1

  
  

  QMRO: qmroHref
• Dunkel L, Howard S (2018). The Genetic Basis of Delayed Puberty. nameOfConference

  
  

  DOI: 10.1159/000481569

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/31203
• Howard S, Dunkel L (2017). Normal and Delayed Puberty. nameOfConference

  
  

  DOI: 10.1007/978-3-319-53298-1_4

  
  

  QMRO: qmroHref
• Poliandri A, Miller D, Howard S et al. (2017). Generation of kisspeptin-responsive GnRH neurons from human pluripotent stem cells. nameOfConference

  
  

  DOI: 10.1016/j.mce.2017.02.030

  
  

  QMRO: qmroHref
• Quinton R, Mamoojee Y, Jayasena CN et al. (2017). Society for Endocrinology UK guidance on the evaluation of suspected disorders of sexual development: emphasizing the opportunity to predict adolescent pubertal failure through a neonatal diagnosis of absent minipuberty.. nameOfConference

  
  

  DOI: 10.1111/cen.13257

  
  

  QMRO: qmroHref
• Huhtaniemi IT, Howard S, Dunkel L et al. (2017). 4.01 The Gonadal Axis: A Life Perspective. nameOfConference

  
  

  DOI: 10.1016/b978-0-12-803592-4.00066-3

  
  

  QMRO: qmroHref
• Howard SR, Andre V, Guasti L et al. (2017). DISCOVERY OF MUTATIONS IN MULTIPLE GENES CONTROLLING GNRH NEURONAL MIGRATION AND DEVELOPMENT IN PATIENTS WITH SELF-LIMITED DELAYED PUBERTY. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/69233
• Howard SR, Newbold K, Izatt L et al. (2017). NATIONAL UK GUIDELINES FOR THE INVESTIGATION, TREATMENT AND LONG- TERM FOLLOW- UP OF PAEDIATRIC DIFFERENTIATED THYROID CARCINOMA. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Huhtaniemi I, Howard S, Dunkel L et al. (2016). The Gonadal Axis: A life perspective. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Mancini A, Howard SR, Ruiz-Babot G et al. (publicationYear). LGR4 and EAP1 mutations are implicated in the phenotype of self-limited delayed puberty. nameOfConference

  
  

  DOI: 10.1530/endoabs.44.p139

  
  

  QMRO: qmroHref
• HOWARD SR, Guasti L, Ruiz-Babot G et al. (2016). IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty. nameOfConference

  
  

  DOI: 10.15252/emmm.201606250

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18622
• Howard S, Guasti L, Ruiz-Babot G et al. (2016). Role of IGSF10 mutations in self-limited delayed puberty. nameOfConference

  
  

  DOI: 10.1016/s0140-6736(16)00401-3

  
  

  QMRO: qmroHref
• Howard S, Dunkel L (2016). Sex Steroid and Gonadotropin Treatment in Male Delayed Puberty. nameOfConference

  
  

  DOI: 10.1159/000438891

  
  

  QMRO: qmroHref
• Howard S, Poliandre A, Storr HL et al. (publicationYear). Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH). nameOfConference

  
  

  DOI: 10.1530/endoabs.39.p1

  
  

  QMRO: qmroHref
• Howard S, Guasti L, Ruiz-Babot G et al. (publicationYear). Mutations in IGSF10 cause self-limited delayed puberty. nameOfConference

  
  

  DOI: 10.1530/endoabs.39.oc5.1

  
  

  QMRO: qmroHref
• Howard S, Poliandri A, Storr H et al. (publicationYear). Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism. nameOfConference

  
  

  DOI: 10.1530/endoabs.38.oc6.3

  
  

  QMRO: qmroHref
• Howard S, Guasti L, Ruiz-Babot G et al. (publicationYear). Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration. nameOfConference

  
  

  DOI: 10.1530/endoabs.38.oc1.2

  
  

  QMRO: qmroHref
• Joustra SD, Wehkalampi K, Oostdijk W et al. (2015). IGSF1 variants in boys with familial delayed puberty. nameOfConference

  
  

  DOI: 10.1007/s00431-014-2445-9

  
  

  QMRO: qmroHref
• Howard S, Guasti L, Storr H et al. (publicationYear). A novel gene affecting the timing of puberty. nameOfConference

  
  

  DOI: 10.1530/endoabs.34.p158

  
  

  QMRO: qmroHref
• Katugampola H, Howard S, Allgrove J (publicationYear). PTEN hamartoma syndrome: unravelling the complexities of childhood surveillance. nameOfConference

  
  

  DOI: 10.1530/endoabs.34.p410

  
  

  QMRO: qmroHref
• Howard S, Barnes M, Storr H et al. (2013). Familial constitutional delay in growth and puberty is a condition with significant genetic heterogeneity and limited overlap with the timing of puberty in the general population. nameOfConference

  
  

  DOI: 10.1530/endoabs.31.p145

  
  

  QMRO: qmroHref
• Howard SR, Butler GE (2013). An Analysis of the Clinical and Cost Effectiveness of Growth Hormone Replacement Therapy before and during Puberty: Should We Increase the Dose?. nameOfConference

  
  

  DOI: 10.1159/000346687

  
  

  QMRO: qmroHref
• Hyams C, Day TG, Ramroop S et al. (2012). An Unusual Case of Incomplete Kawasaki Disease in an Adolescent Returning From Holiday in Montana. nameOfConference

  
  

  DOI: 10.1007/s00246-012-0246-3

  
  

  QMRO: qmroHref
• Howard S (2010). Question 1 Does oral ondansetron reduce vomiting and the need for intravenous fluids and hospital admission in children presenting with vomiting secondary to gastroenteritis?. nameOfConference

  
  

  DOI: 10.1136/adc.2010.198937

  
  

  QMRO: qmroHref
• Howard S, Raine J, Dattani M (2009). Corneal rupture in a child with Down syndrome and hyperthyroidism. nameOfConference

  
  

  DOI: 10.1136/bcr.08.2008.0842

  
  

  QMRO: qmroHref
• Howard S, Lyder G, Allgrove J et al. (2009). Case histories.. nameOfConference

  
  

  DOI: 10.1159/000223699

  
  

  QMRO: qmroHref

Collaborators

Internal

• Dr Carles Gaston-Massuet (Endocrinology)
• Dr Helen Storr (Endocrinology)
• Prof Márta Korbonits (Endocrinology)
• Dr Evelien Gevers (Endocrinology)
• Prof Michael Barnes (Bioinformatics)
• Dr Claudia Cabrera (Bioinformatics)

External

• Anna Cariboni (Milan, Italy)
• Yee-Ming Chan (Boston, USA)
• Raja Brauner (Paris, France)
• Romina Grinspon and Rodolfo Rey (Buenos Aires, Argentina)
• Alexander Jorge and Ana Claudia Latronico (São Paolo, Brazil)
• Verónica Mericq and Paulina Merino (Santiago, Chile)
• Vincent Prevot (Lille France)
• Marco Bonomi (Milan, Italy)
• Alessia David (Imperial, London, UK)

News

• Paediatric Endocrinology - Expert Reviews (Medwire Newsfocus)
• Faulty 'delayed puberty' gene found (BBC News Online)
• Genetic causes of very late puberty (The Academy of Medical sciences)
• When breast is not best (Charlotte Philby) 

Teaching

QMUL

• Primary Supervisor for PhD students (2024-2028)
• Primary Supervisor for ACF and SFP doctors (2021-2024)
• Primary Supervisor for SSC4/ MSc students (2021-2024)                                         
• Academic Advisor MBBS (2023-2024)                                                                         
• PGDip/MSc Endocrinology, Lecturer (2016-2024)                                                     
• OSCE examiner/ MBBS & GEP interviewer (2016-2024)                                             
• Undergraduate Endocrine physiology and biochemistry, Lecturer (2017-2024)     

Ex-QMUL

• ESPE Connect Webinar Dec (2023)
• MedEA Webinar series Oct (2023)
• Anne Klibanski Visiting Lecture Series, Massachusetts General Hospital, USA (May 2023)
• Invited symposium speaker, ESPE Rome Italy (2022)
• Invited symposium speaker, BSPED, (November 2021)