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Chapter-03 Monogenic Diabetes: Perspectives and Clinical Implications from Pediatric to Adult Endocrinology

BOOK TITLE: CDiC Textbook of Pediatric Diabetes

Author
1. Srikanta SS
2. Das Ashok K
3. Kalra Sanjay
4. Reshma BV
5. Muniraj Kavitha
6. Chandrika KM
7. Rao S Geetha
8. Reddy L
9. Rangaraj Usha
10. Nath Vasanthi
11. Gupta Neera
12. Sen Ranjini
13. Dhingra Mudita
ISBN
9789352700868
DOI
10.5005/jp/books/14155_4
Edition
1/e
Publishing Year
2018
Pages
10
Author Affiliations
1. Jnana Sanjeevini Diabetes and Medical Centre, Bengaluru, Karnataka, India, Samatvam Endocrinology Centre and, Jnana Sanjeevani Medical Centre, Bengaluru
2. Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, Pondicherry Institute of Medical Sciences, Puducherry, India
3. Bharti Hospital, Karnal, Haryana, India, Bharti Hospital and B.R.I.D.E., Karnal 132 001, Haryana, India, Bharti Hospital and BRIDE Karnal; Indian J Endocrinology Metabolism, Bharti Hospital, Karnal, Haryana, India, Bharti Hospital, Karnal-132001, Haryana, India, Indian J Endocrinology and Metabolism; J of Social Health in Diabetes (JoSH Diabetes), Bharti Hospital and BRIDE, Karnal, Haryana, India, Bharti Hospital and BRIDE, Karnal, Haryana, India, Bharti Research Institute of Diabetes and Endocrinology (BRIDE), Karnal, Haryana, India
4. Dr S Srikanta and the Diabetes Collaborative Study Group, Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center, Samatvam: Science and Research for Human Welfare Trust, Bangalore, Karnataka, India
5. Dr S Srikanta and the Diabetes Collaborative Study Group, Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center, Samatvam: Science and Research for Human Welfare Trust, Bangalore, Karnataka, India
6. Dr S Srikanta and the Diabetes Collaborative Study Group, Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center, Samatvam: Science and Research for Human Welfare Trust, Bangalore, Karnataka, India
7. Dr S Srikanta and the Diabetes Collaborative Study Group, Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center, Samatvam: Science and Research for Human Welfare Trust, Bangalore, Karnataka, India
8. Dr S Srikanta and the Diabetes Collaborative Study Group, Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center, Samatvam: Science and Research for Human Welfare Trust, Bangalore, Karnataka, India
9. Dr S Srikanta and the Diabetes Collaborative Study Group, Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center, Samatvam: Science and Research for Human Welfare Trust, Bangalore, Karnataka, India
10. Dr S Srikanta and the Diabetes Collaborative Study Group, Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center, Samatvam: Science and Research for Human Welfare Trust, Bangalore, Karnataka, India
11. Novo Nordisk Education Foundation, Bangalore, Karnataka, India
12. Novo Nordisk Education Foundation, Bangalore, Karnataka, India
13. Rotary Hospital, Ambala, Haryana, India, Radhakishan Hospital, Kurukshetra, Haryana, India, Radhakishan Hospital, Kurukshetra, Haryana, India
Chapter keywords
Monogenic diabetes, gene mutation, neonatal diabetes, familial mild hyperglycemia, autosomal dominant, genetic syndrome, insulin resistance syndrome, glucokinase monogenic diabetes

Abstract

Monogenic diabetes results from one or more defects in a single gene. The disease may be inherited within families as a dominant, recessive, or non-Mendelian trait or may present as a spontaneous case due to a de novo mutation. Well over 40 different genetic subtypes of monogenic diabetes have been identified to date, each having a typical phenotype and a specific pattern of inheritance. The majority of patients with genetically proven monogenic diabetes are initially incorrectly diagnosed as T1DM or T2DM. Correct clinical and genetic diagnosis facilitates optimum diagnosis, genetic counseling, and therapy. Beta-cell dysfunction monogenic diabetes, insulin resistance monogenic diabetes, population prevalence of monogenic diabetes, and glucokinase monogenic diabetes and gestational diabetes mellitus are also discussed in this chapter.

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