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[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.
17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development (46,XY DSD). The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III), [ 6 ] [ 7 ] presents as atypical genitalia in affected males.
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.
Autoimmune polyglandular syndrome type 1, Whitaker syndrome, Candidiasis-hypoparathyroidism–Addison's disease syndrome: Autoimmune polyendocrine syndrome type 1 is autosomal recessive: Specialty: Endocrinology, medical genetics: Symptoms: chronic mucocutaneous candidiasis: Causes: mutation in AIRE gene: Diagnostic method: CT scan, biopsy ...
Hypoprolactinemia is associated with ovarian dysfunction in women, [3] [4] and, in men, metabolic syndrome, [5] anxiety symptoms, [5] arteriogenic erectile dysfunction, [6] premature ejaculation, [5] oligozoospermia (low concentration of sperm in semen), asthenospermia (reduced sperm motility), hypofunction of seminal vesicles, and hypoandrogenism. [7]
Androgen deficiency most commonly affects women, and is also called Female androgen insufficiency syndrome (FAIS), although it can happen in both sexes. [ 2 ] [ 3 ] Androgenic activity is mediated by androgens (a class of steroid hormones with varying affinities for the androgen receptor ), and is dependent on various factors including androgen ...
The enzyme adenosine deaminase is encoded by the ADA gene on chromosome 20. [1] ADA deficiency is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 20 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Hypogonadism means diminished functional activity of the gonads—the testicles or the ovaries—that may result in diminished production of sex hormones.Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism.