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Male-limited precocious puberty Classification and external resources OMIM 176410 Male-limited precocious puberty (also known as familial sexual precocity and gonadotropin-independent testotoxicosis)[1] is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty.[2] Signs of puberty can develop as early as an age of 1 year. The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an autosomal dominant[1] condition with a mutation of the LH receptor. Treatment is with drugs that suppress gonadal steroidogenesis, such as cyproterone acetate, ketoconazole or spironolactone and testolactone.[3] Male-limited precocious puberty has an autosomal dominant pattern of inheritance. References ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 176410 ^ Traggiai C, Stanhope R (2003). "Disorders of pubertal development". Best Pract Res Clin Obstet Gynaecol 17 (1): 41–56. doi:10.1053/ybeog.2003.0360. PMID 12758225.  ^ Reiter EO, Norjavaara E (2005). "Testotoxicosis: current viewpoint". Pediatr Endocrinol Rev 3 (2): 77–86. PMID 16361981.  External links Testotoxicosis at NIH's Office of Rare Diseases This genetic disorder article is a stub. You can help Wikipedia by expanding it. v • d • e v • d • e Endocrine pathology: endocrine diseases (E00–35, 240–259) Pancreas/ glucose metabolism Hypofunction Diabetes mellitus types: (type 1, type 2, MODY 1 2 3 4 5 6) · complications (coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy, cardiomyopathy) insulin receptor (Rabson–Mendenhall syndrome) · Insulin resistance Hyperfunction Hypoglycemia · beta cell (Hyperinsulinism) · G cell (Zollinger–Ellison syndrome) Hypothalamic/ pituitary axes Hypothalamus gonadotropin (Kallmann syndrome, Adiposogenital dystrophy) · CRH (Tertiary adrenal insufficiency) · vasopressin (Neurogenic diabetes insipidus) · general (Hypothalamic hamartoma) Pituitary Hyperpituitarism anterior (Acromegaly, Hyperprolactinaemia, Pituitary ACTH hypersecretion) · posterior (SIADH) · general (Nelson's syndrome) Hypopituitarism anterior (Kallmann syndrome, Growth hormone deficiency, ACTH deficiency/Secondary adrenal insufficiency) · posterior (Neurogenic diabetes insipidus) · general (Empty sella syndrome, Pituitary apoplexy, Sheehan's syndrome, Lymphocytic hypophysitis) Thyroid Hypothyroidism Iodine deficiency · Cretinism (Congenital hypothyroidism) · Myxedema · Euthyroid sick syndrome Hyperthyroidism Hyperthyroxinemia (Thyroid hormone resistance, Familial dysalbuminemic hyperthyroxinemia) · Hashitoxicosis · Thyrotoxicosis factitia · Graves' disease Thyroiditis Acute infectious · Subacute (De Quervain's, Subacute lymphocytic) · Autoimmune/chronic (Hashimoto's, Postpartum, Riedel's) Goitre Endemic goitre · Toxic nodular goitre · Toxic multinodular goitre Thyroid nodule Parathyroid Hypoparathyroidism Pseudohypoparathyroidism Hyperparathyroidism Primary · Secondary · Tertiary · Osteitis fibrosa cystica Adrenal Hyperfunction aldosterone: Hyperaldosteronism/Primary aldosteronism (Conn syndrome, Bartter syndrome, Glucocorticoid remediable aldosteronism) · AME · Liddle's syndrome · 17α CAH cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome) sex hormones: 21α CAH · 11β CAH Hypofunction/ Adrenal insufficiency (Addison's, WF) aldosterone: Hypoaldosteronism (21α CAH, 11β CAH) cortisol: CAH (Lipoid, 3β, 11β, 17α, 21α) sex hormones: 17α CAH Gonads ovarian: Polycystic ovary syndrome · Premature ovarian failure testicular: enzymatic (5-alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency) · Androgen receptor (Androgen insensitivity syndrome) general: Hypogonadism (Delayed puberty) · Hypergonadism (Precocious puberty) Height Gigantism · Dwarfism/Short stature (Laron syndrome, Psychosocial) Multiple Autoimmune polyendocrine syndrome (APS1, APS2) · Carcinoid syndrome · Multiple endocrine neoplasia (1, 2A, 2B) · Progeria (Werner syndrome, Acrogeria, Metageria) · Woodhouse-Sakati syndrome M: END anat/phys/devp/horm/cell noco(d)/cong/tumr, sysi/epon proc, drug (A10/H1/H3/H5) v • d • e Genetic disorder: Receptor deficiencies Growth factor receptor FGFR1 Pfeiffer syndrome · KAL2 Kallmann syndrome FGFR2 Apert syndrome · Antley-Bixler syndrome · Pfeiffer syndrome · Crouzon syndrome · Jackson-Weiss syndrome FGFR3 Achondroplasia · Hypochondroplasia · Thanatophoric dysplasia TGF beta receptors Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) · TGFBR1/TGFBR2 (Loeys-Dietz syndrome) Hormone receptor Thyroid hormone receptor Thyroid hormone resistance Thyrotropin receptor CHNG1 congenital hypothyroidism Parathyroid hormone receptor Jansen's metaphyseal chondrodysplasia · Pseudohypoparathyroidism Androgen receptor Androgen insensitivity syndrome · Kennedy disease Estrogen receptor Estrogen insensitivity syndrome Growth hormone receptor Laron syndrome Mineralocorticoid receptor PHA1AD pseudohypoaldosteronism Anti-Müllerian hormone receptor Persistent Mullerian duct syndrome II · Familial hypocalciuric hypercalcemia LH receptor Male-limited precocious puberty FSH receptor XX gonadal dysgenesis Other Robinow syndrome