| Cause |
Clinical Features |
Investigations |
Management |
| Familial Tall Stature |
Tall stature in the context of family history; normal growth velocity and puberty, normal development. |
Growth charts, review of family growth patterns, normal hormone levels. |
Reassurance and monitoring; no treatment typically required. |
| Marfan Syndrome |
Tall stature with long limbs, arachnodactyly, pectus excavatum, scoliosis, lens dislocation, aortic dilation, normal or delayed puberty. |
Clinical evaluation, genetic testing for FBN1 mutations, echocardiogram for aortic root assessment, ophthalmologic examination. |
Regular cardiovascular monitoring, beta-blockers or angiotensin receptor blockers (ARBs), surgical repair of aortic root if necessary, management of skeletal abnormalities. |
| Klinefelter Syndrome (47,XXY) |
Tall stature, long legs, small testes, gynecomastia, learning difficulties, infertility, delayed or incomplete puberty. |
Karyotype analysis, serum testosterone, FSH, and LH levels, bone age assessment. |
Testosterone replacement therapy, educational support, fertility counseling, management of associated conditions (e.g., osteoporosis). |
| Gigantism |
Excessive growth before the closure of epiphyseal plates, large hands and feet, coarse facial features, signs of pituitary tumour (e.g., headaches, visual disturbances). |
Serum IGF-1 levels, growth hormone suppression test, MRI of the pituitary gland, bone age assessment. |
Surgical removal of pituitary adenoma, somatostatin analogs, dopamine agonists, and/or radiation therapy if surgery is not curative. |
| Sotos Syndrome (Cerebral Gigantism) |
Rapid growth in early childhood, large head, advanced bone age, learning disabilities, hypotonia, distinctive facial features. |
Clinical evaluation, genetic testing for NSD1 mutations, bone age assessment, developmental assessment. |
Supportive management including physical, occupational, and speech therapy, educational support, regular monitoring for associated complications. |
| Homocystinuria |
Tall stature, long limbs, lens dislocation, intellectual disability, thromboembolic events, osteoporosis, Marfanoid habitus. |
Plasma homocysteine levels, genetic testing for CBS gene mutations, amino acid chromatography, ophthalmologic examination. |
Dietary restriction of methionine, supplementation with pyridoxine (vitamin B6), folate, and vitamin B12, anticoagulation therapy, management of complications. |
| Thyrotoxicosis |
Accelerated growth, advanced bone age, weight loss despite increased appetite, tachycardia, tremor, goiter. |
Serum TSH, free T4, and free T3 levels, thyroid ultrasound, bone age assessment. |
Antithyroid medications (e.g., methimazole), beta-blockers, radioactive iodine therapy, or thyroidectomy in refractory cases. |
| Precocious Puberty |
Early onset of secondary sexual characteristics, rapid growth initially, but early closure of epiphyseal plates may lead to short adult stature. |
Serum LH, FSH, estradiol/testosterone levels, GnRH stimulation test, bone age assessment, brain MRI if central cause suspected. |
GnRH analogs to delay puberty, monitoring growth and development, treatment of underlying causes (e.g., CNS lesions). |