ENDOCRINOLOGY
There are more than 170 endocrine diseases, impacting people of all ages. Patients often require lifelong treatment, which seriously impact their quality of life. Many endocrine diseases are still incurable now, and existing therapies have limited benefits or cause great side effects, which are yet to be resolved.
Growth hormone deficiency
Growth hormone deficiency (GHD) is a condition caused by the inadequate secretion of growth hormone (GH) from the anterior pituitary gland. GHD can happen in children, and also in adults. The prevalence of GHD is approximately 1/5,000 [1] in children and approximately 2-3/10,000 [2] in adults .[9].
Optimizing Height Achievement
Children with GHD may not achieve full height potential if left untreated. Moreover, they experience increased risk of consequences beyond their height
Metabolic and Endocrine Disorders
Higher incidence of conditions such as adrenal insufficiency, diabetes insipidus, hypothyroidism and hypogonadism (as part of hypopituitarism)[2]
Mortality Risk
Significantly increased (HR, 8.3–9.4) mortality risk in adult life [3]
Fractures
50% lower peak bone mass and almost 3-fold increase rate of fracture in adulthood [4][5]
Cardiovascular Health
Deficiencies in cardiac health, development and ventricular structure
[6][7][8]
Mental Health
Higher incidence of anxiety, ADHD, depression and sleep disorders[2]
References:
- Brod M, et al. Qual Life Res. 2017;26(7):1673-1686.
- Kaplowitz P, et al. J Manag Care Spec Pharm. 2021;1-11.
- Stochholm K, et al. Eur J Endocrinol. 2007;157(1):9-18.
- Bex M, et al. Horm Res. 2003;60(suppl 3):80-86.
- Wüster C, et al. J Bone Miner Res. 2001;16(2):398-405.
- Binay C, et al. Growth Horm IGF Res. 2015;25(6):294-297.
- Capalbo D, et al. J Clin Endocrinol Metab. 2017;102(11): 4080-4088.
- Metwalley KA, et al. Indian J Endocrinol Metab. 2013;17(5):876-882.
- Lindsay R, et al. J Pediatr.1994;125(1):29-35.
Hypoparathyroidism (HP)
Hypoparathyroidism (HP) is a disease characterized by absence or inappropriately low concentrations of circulating parathyroid hormone (PTH), leading to hypocalcaemia, hyperphosphataemia and elevated fractional excretion of calcium in the urine. The prevalence of HP in the United States is approximately 37/100,000.
Burden of Disease
PTH plays important role in serum calcium and phosphate normal balance. HP patients with hypocalcemia (low calcium in the blood) experience abnormal tingling, burning, numbness (paresthesia) ,brain fog (impaired judgement, memory loss, headache), muscle cramps (tetany), seizures.
Long term symptoms, such as calcification: calcium deposits in the kidney, brain, blood vessels, eye and other soft tissues. The symptoms are not specific to HP, please visit Endocrinology clinics for help if you have any concerns.
Achondroplasia
Achondroplasia (ACH) is an autosomal dominant disorder associated with the most common form of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene results compress of bone growth. Those affected have an average adult height of 130 CM. Majority of cases occur in children of parents of average stature and result from a new mutation, which most commonly originates as a spontaneous change during spermatogenesis or oogenesis. Normal parents give birth of ACH baby with low possibility. Prevalence rate is 1/25,000. ACH has been defined as a rare disease in Taiwan. [1]
Burden of Disease
In those with the condition, the arms and legs are short, shortening of the proximal limbs. Other features includes frontal bossing, flattened nasal bridge, spinal kyphosis, short fingers and toes, with "trident hands". Complcations: hydrocephalus, ear infections.
References:
