HOMO SAPIENS DISEASES - ENDOCRINE APPARATUS
(see also physiology of endocrine apparatus)

Table of contents :


  • diseases of hypothalamus
  • diseases of hypophysis / pituitary gland
  • diseases of thyroid
  • diseases of parathyroids
  • diseases of liver
  • diseases of kidney
  • diseases of endocrine pancreas
  • diseases of adrenal glands
  • diseases of epiphysis / pineal gland
  • diseases of gonads
  • diseases of adipose tissue
  • hyperthermy
  • hypothermy
  • web resources
  • bibliography

  • type
    deficiency
    form
    pseudohermaphroditism
    postnatal virilization
    mineralocorticoid metabolism
    elevated steroids
    decreased steroids
    I
    steroidogenic acute regulatory (StAR) protein : death during childhood
    lipoid adrenal hyperplasia
    male pseudohermaphroditism
    no
    salt wasting
    none all
    II
    HSD3B2
    classic





    salt wasting
    male pseudohermaphroditism
    yes
    salt wasting
    DHEA, 17-OH -pregnenolone aldo, T, cort, estradiol
    non-salt wasting
    male pseudohermaphroditism
    yes
    normal
    DHEA, 17-OH- pregnenolone aldo, T, cort, estradiol
    nonclassic
    no
    yes
    normal
    DHEA, 17-OH- pregnenolone -
    III
    CYP21A2 / 21 hydroxylase (95% : homozygous deficiency causes fetal death due to lack of cortisol synthesis)
    • partial deletions (10-30%)
    • silencing (10%)
    • point mutations (60-75%)
    classic





    salt wasting (complete deficiency)
    female pseudohermaphroditism
    yes
    salt wasting, anorexia, vomiting, hypovolemia and cardiovascular shock within first weeks of life
    progesterone, 17-OH- progesterone, D4- androstenedione aldo, cort
    simple virilizing (50% : partial deficiency)
    female pseudohermaphroditism
    yes
    normal
    17-OH- progesterone, D4-A cort
    nonclassic
    no
    yes
    normal
    17-OH- progesterone, D4-A -
    IV
    CYP11B1 / 11b hydroxylase
    classic
    female pseudohermaphroditism
    yes
    secondary systemic arterial hypertension
    11-DOC, 11- deoxycortisol cort, aldo
    nonclassic
    no
    yes
    normal
    11-deoxycortisol ± 11-DOC -
    V
    CYP17A1 steroid 17a-hydroxylase activity
    -
    male pseudohermaphroditism : hypokaliemic alkalosis, no hydrocortisone, hypospadia, gynecomastia
    no
    secondary systemic arterial hypertension
    11-DOC, corticosterone aldo, andro, cort, estro
    CYP17A1 17,20 lyase activity
    -
    male pseudohermaphroditism
    no
    normal
    - DHEA, T, D4-A

    multiple deficiency