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Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male undervirilization. Symptoms: Hypothyroidism, Cryptorchidism [2] Causes: Mutations found in the 17β-HSD III gene [3] Diagnostic method
[citation needed] In women with mild cases, elevated blood pressure and/or infertility is the presenting clinical problem. 17α-hydroxylase deficiency in genetic males results in moderate to severe reduction of fetal testosterone production by adrenal glands and testes. Undervirilization is variable and sometimes complete.
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
Diagnosis is often based on urine tests, blood tests and the fluid deprivation test. [1] Despite the name, diabetes insipidus is unrelated to diabetes mellitus and the conditions have a distinct mechanism, though both can result in the production of large amounts of urine. [1] Treatment involves drinking sufficient fluids to prevent dehydration ...
Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones.The adrenal glands—also referred to as the adrenal cortex—normally secrete glucocorticoids (primarily cortisol), mineralocorticoids (primarily aldosterone), and androgens.
Central diabetes insipidus, recently renamed arginine vasopressin deficiency (AVP-D), [1] is a form of diabetes insipidus that is due to a lack of vasopressin (ADH) production in the brain. Vasopressin acts to increase the volume of blood (intravascularly), and decrease the volume of urine produced.
A disintegrin and metalloprotease 17 (ADAM17), also called TACE (tumor necrosis factor-α-converting enzyme), is a 70-kDa enzyme that belongs to the ADAM protein family of disintegrins and metalloproteases, activated by substrate presentation.
Antidiuretic hormone (ADH) deficiency leads to the syndrome of diabetes insipidus (unrelated to diabetes mellitus): inability to concentrate the urine, leading to polyuria (production of large amounts of clear urine) that is low in solutes, dehydration and—in compensation—extreme thirst and constant need to drink , as well as hypernatremia ...