Bone |
- Osteogenesis imperfecta
- Skeletal dysplasia (e.g. achondroplasia, fibrous dysplasia etc.)
- Metabolic bone diseases
- Rickets
- Calcium and phosphate metabolic disorders with potential genetic etiology (e.g. calcium sensor defects, X-linked hypophosphatemic rickets) or requiring surgical intervention (e.g. parathyroid adenoma / hyperplasia)
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Diabetes Mellitus |
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Type 1 diabetes
- Patients on insulin pump
- Neonatal diabetes and other monogenic diabetes (e.g. DIDMOAD)
- Patients with co-existing autoimmune diseases (excluding well-controlled thyroid diseases)
- Patients with diabetic complications (excluding intermittent microalbuminuria)
- Patients with Type 1 diabetes and eating disorders with unstable diabetic control
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Poorly controlled diabetes with one of the following:
- HbA1c ≥ 9.5% for over 1 year
- Recurrent diabetic ketoacidosis (DKA) (>1 DKA / year in past 2 years)
- Recurrent severe hypoglycaemic episodes (>1 severe hypoglycaemic episodes / year in past 2 years)
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Type 2 diabetes
- Patients with Type 2 DM and ≥ 2 obesity related problems including hypertension, dyslipidaemia, OSAS, PCOS or fatty liver
- Patients with diabetic complications
- Poorly controlled diabetes with persistent HbA1c > 8% for over 1 year
- Patients requiring long term insulin treatment
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Disorder of sexual differentiations |
- Ambiguous genitalia
- Undervirilized male or virilized female
- Congenital adrenal hyperplasia
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Endocrine Oncology |
- Adrenal tumor / cancer
- Phaeochromocytoma
- Thyroid cancer
- Brain tumor with panhypopituitarism / central diabetes insipidus
- Hormone-secreting tumor e.g. Cushing’s syndrome, acromegaly, prolactinoma
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Growth and puberty |
- Growth and pubertal issues suspected to be related to underlying genetic syndrome (e.g. Turner syndrome, Prader-Willi Syndrome, Klinefelter syndrome, Noonan syndrome, Russell Silver syndrome)
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