Makindo Medical Notes"One small step for man, one large step for Makindo" |
|
---|---|
Download all this content in the Apps now Android App and Apple iPhone/Pad App | |
MEDICAL DISCLAIMER: The contents are under continuing development and improvements and despite all efforts may contain errors of omission or fact. This is not to be used for the assessment, diagnosis, or management of patients. It should not be regarded as medical advice by healthcare workers or laypeople. It is for educational purposes only. Please adhere to your local protocols. Use the BNF for drug information. If you are unwell please seek urgent healthcare advice. If you do not accept this then please do not use the website. Makindo Ltd. |
Related Subjects: |Causes of Short Stature in Children |Causes of Male Infertility |Causes of Tall Stature in Children |Marfan syndrome |Klinefelter Syndrome |Turner's syndrome (Children)
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). |