Endocrine disease

Articles

• congenital adrenal hyperplasia
  15 April 2005

  CAH, adrenogenital syndrome

• 17-hydroxylase deficiency
  26 May 2009

  Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme CYP17A1.
  17-alpha hydroxylase deficiency causes 1% of congenital adrenal hyperplasia.
  All patients have female external genitalia due to increased deoxycorticosterone and arterial hypertension.
  It produces decreased synthesis of both cortisol and sex steroids, with resulting increase in mineralocorticoid production. (...)

• multiple endocrine neoplasia type 1
  19 June 2004

  Definition: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder characterized by multiple parathyroid, pancreatic, duodenal, and pituitary neuroendocrine tumors. Nonendocrine mesenchymal tumors, such as lipomas, collagenomas, and angiofibromas have also been reported.Multiple endocrine neoplasia type I is caused by mutation in the MEN1 gene.
  Nota bene: Multiple endocrine neoplasia syndromes (MENs) - Other forms of multiple endocrine neoplasia include (...)

• 17,20-desmolase deficiency
  22 July 2010

  Synopsis
  ambiguous genitalia
  in utero virilization of female fetus
  fetal and maternal virilization associated with pregnancy
  normal karyotype / normal female genotype
  extremely high levels of pregnenolone, pregnenolone sulfate, progesterone d in association with low plasma levels of delta 4-androstenedione, testosterone, dehydroepiandrosterone and its sulfate
  cortisol 17OH-progesterone and ACTH levels and plasma renin activity normal.
  all the progestagens rise further after (...)

• 11-hydroxylase deficiency
  26 May 2009

  11β-Hydroxylase deficiency, 11beta-hydroxylase deficiency

• 3-hydroxysteroid dehydrogenase deficiency
  25 May 2009

  3β-Hydroxysteroid dehydrogenase