Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917801 (insomnia)
 10,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Defects of androgen receptor gene lead to testicular feminization syndrome, which is one of the most common etiology of male pseudohermaphroditism. A 22-year-old phenotypic female with primary amenorrhea and insomnia is presented. Gross appearance revealed sparse axillary and pubic hair, poor breast development, clitoromegaly and absence of vagina. Ultrasound demonstrated no evidence of the uterus or adnexal structures, but the prostate gland was found. The laboratory data showed elevated follicle-stimulating hormone and a male 46, XY karyotype. Computed tomography localized the position of bilateral undescending testes, which were removed by operative laparoscopy procedures later. The patient was discharged without complication postoperatively.
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PMID:Bilateral laparoscopic gonadectomy for testicular feminization syndrome. 931 Dec 3

Androgens are defined as the steroids having a binding affinity of the androgen receptor. In the reproduction age a daily production of testosterone is equally divided between the ovaries and adrenal and local tissue conversion of androstenedione and DHEA. After menopause the 80% of testosterone is produced in ovaries, but majority of precursors for peripheral conversion is adrenal origin. Androgen receptors are present throughout in the body; over 200 cellular actions of androgens have been described. Androgenic action is determined by quantitative level of the androgen present in the circulation, its degree of binding to proteins, the degree of interconversion to other androgens and estrogens, and the biological potency and androgen receptor binding affinity of the androgen. The most common clinical symptoms of androgen deficiency are the reduction of sex motivation, sex fantasy, sex enjoyment, sex arousal, vaginal vasocongestion, but also reduction of pubic hair, bone mass, muscle mass, worsening of quality of life (mood, affect, energy), more frequent vasomotors symptoms, insomnia, depression, headache. All these signs and symptoms can be multifactorial. Most common conditions associated with hypoandrogenism in women are hypothalamic-pituitary abnormalities, lack or insufficiency of ovaries, adrenal insufficiency, glucocorticoid therapy, exogenous estrogen administration. Besides the clinical picture the free testosterone measuring is important for diagnosis. The method of choice of this measure is equilibrium dialysis assay. Despite of clinical importance of androgen insufficiency in women, none of methods of androgen substitution is approved by FDA.
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PMID:[Androgen deficiency in women]. 1682 Dec 29