Publications

Recent Reviews

• Saengkaew T and Howard SR Genetics of Pubertal Delay, Clinical Endocrinology 2021, doi:10.1111/cen.14606
• Saengkaew T and Howard SR. NGS Approach in the Diagnosis of Delayed Puberty, Current Opinion in Endocrine and Metabolic Research, 2020 doi: 10.1016/j.coemr.2020.05.003
• Howard SR and Dunkel L. Delayed Puberty – Phenotypic Diversity, Molecular Genetic Mechanisms and Recent Discoveries. Endocrine reviews 2019 doi: 10.1210/er.2018-00248
• Howard SR. Genetic Regulation in Pubertal Delay. J Mol Endocrinol 2019;63:37-9 doi: 10.1530/JME-19-0130
• Howard SR. Genes underlying delayed puberty. Mol Cell Endocrinol. 2018 May 4. pii: S0303-7207(18)30149-7. doi: 10.1016/j.mce.2018.05.001. 
• Howard SR and Dunkel L. The Genetic Basis of Delayed Puberty, Neuroendocrinology 2017 doi: 10.1159/000481569

 

Original Research on the Genetic Casues of Delayed Puberty

• Saengkaew T, Ruiz-Babot G, David A, Mancini A, Mariniello K, Cabrera CP, Barnes MR, Dunkel L, Guasti L, Howard SR Whole Exome Sequencing Reveals Dominant Mutations in CCDC141 to be a Common Cause of Self-Limited Delayed Puberty, Genomic Medicine 2021, doi:10.1038/s41525-021-00274-w
• Mancini A, Howard SR, Marelli F, et al. LGR4 deficiency results in delayed puberty through impaired Wnt-β-catenin signalling, JCI Insight 2020; 5(11), doi: 10.1172/jci.insight.133434
• Mancini A, Howard SR, Cabrera CP, et al. EAP1 regulation of GnRH promoter activity is important for human pubertal timing, Hum Mol Genet. 2019 Jan 4. doi: 10.1093/hmg/ddy451.
• Howard SR, Oleari R, Poliandri A, et al. HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes. J Clin Endocrinol Metab. 2018 Jun 20. doi: 10.1210/jc.2018-00646.
• Cassatella D*, Howard SR*, Acierno J, et al. Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures Eur J Endocrinol. 2018 Feb. doi: 10.1530/EJE-17-0568. *joint first authorship
• Howard SR, Guasti L, Dunkel L, et al. Contributions of function-altering variants in genes implicated in pubertal timing and body mass for self-limited delayed puberty J Clin Endocrinol Metab, 2017, Nov 16. doi: 10.1210/jc.2017-02147
• Howard SR, Guasti L, Ruiz-Babot G, et al. IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty EMBO Mol Med 2016; 8(6) 626-642 doi.org/10.15252/emmm.201606250.

 

Clinical Management of Pubertal and Reproductive Disorders

• Saengkaew T, Patel HR, Banerjee K, Butler G, Dattani MT, McGuigan M, Storr HL, Willemsen RL, Dunkel L, Howard SR Genetic Evaluation Supports Differential Diagnosis in Adolescent Patients with Delayed Puberty, European Journal of Endocrinology, 2021 Aug, doi:10.1530/EJE-21-0387
• Howard SR. Interpretation of reproductive hormones before, during and after the pubertal transition – identifying health and disordered puberty, Clinical Endocrinology 2021 doi:10.1111/cen.14578
• Howard SR and Dunkel L. Management of Hypogonadism From Birth to Adolescence. Best Practice & Research Clinical Endocrinology & Metabolism. 2018 doi: 10.1016/j.beem.2018.05.011

 

See also https://researchpublications.qmul.ac.uk/publications/staff/30006.html