Laron syndrome
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| ICD-10 | E34.3 |
|---|---|
| ICD-9 | 259.4 |
| OMIM | 262500 245590 |
| DiseasesDB | 7262 |
| eMedicine | ped/1277 |
| MeSH | D046150 |
Laron syndrome is a disorder characterized by an insensitivity to growth hormone, caused by a variant of the growth hormone receptor. It causes short stature. It is named after Zvi Laron, the Israeli researcher who, with A. Pertzelan and S. Mannheimer, first reported the condition in 1966.
[edit] See also
Resistance to GH was first reported by Laron in 1966. Since then, severe resistance to GH, characterized by grossly impaired growth despite normal levels of GH in serum, has been termed Laron syndrome. Molecular genetic investigations have shown that this disorder is mainly associated with mutations in the gene for the GH receptor. These can result in defective hormone binding to the ectodomain or reduced efficiency of dimerization of the receptor after hormone occupancy. It is an autosomal recessive disorder. There is exceptionally low levels of IGF-1 and its principal carrier protein, insulin-like growth factor binding protein 3. Physical symptoms inclue: prominent forehead, depressed nasal bridge, under-development of mandible, truncal obesity and a very small penis. Treatment may include administration of IGF-1.
[edit] External links
thyroid Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre) - Hyperthyroidism (Graves-Basedow disease, Toxic multinodular goitre) - Thyroiditis (De Quervain's thyroiditis, Hashimoto's thyroiditis)
pancreas Diabetes mellitus (type 1, type 2, coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy) - Zollinger-Ellison syndrome
parathyroid Hypoparathyroidism (Pseudohypoparathyroidism) - Hyperparathyroidism (Primary hyperparathyroidism, Secondary hyperparathyroidism, Tertiary hyperparathyroidism)
pituitary hyperfunction (Acromegaly, Hyperprolactinaemia, Syndrome of inappropriate antidiuretic hormone) - Hypopituitarism (Sheehan's syndrome, Kallmann syndrome, Simmonds' disease, Growth hormone deficiency) - Diabetes insipidus - Hypothalamic-pituitary dysfunction
adrenal Cushing's syndrome (Nelson's syndrome, Pseudo-Cushing's syndrome) - Congenital adrenal hyperplasia (due to 21-hydroxylase deficiency) - Hyperaldosteronism (Conn syndrome, Bartter syndrome) - Adrenal insufficiency (Addison's disease) - Hypoaldosteronism
gonads Polycystic ovary syndrome - 5-alpha-reductase deficiency - Hypogonadism - Delayed puberty - Precocious puberty
other Autoimmune polyendocrine syndrome - Carcinoid syndrome - Laron syndrome - Psychogenic dwarfism - Androgen insensitivity syndrome - Progeria
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