Hirsutism skeletal dysplasia mental retardation
Overview
A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
Symptoms
* Hirsutism * Skeletal dysplasia * Mental retardation * Learning difficulties * Concentration difficulties * Brachycephaly * Elbow deformities * Hallux valgus * Dislocated hip * Ear deformities * Hirsutism * Short head * High arched foot * Claw toes * Abnormal thumb position * Mental retardation * Antimongoloid eye slant * Epicanthic folds * Broad nasal root * Slightly wide set eyes * Everted prominent lower lip * Finger joint pain * Finger joint swelling * Finger joint redness * Prominent elbow joint * Partially dislocated hip joint * Partially dislocated toe * Long narrow thorax * Prominent manubrium * Long neck * Down-sloping shoulders * Coxa valga * Increased serum uric acid level * Reduced kidney uric acid excretion
Causes
Idiopathic hirsutism probably stems from a hereditary trait because the patient usually has a family history of the disorder. Causes of secondary hirsutism include endocrine abnormalities related to pituitary dysfunction (acromegaly or precocious puberty), adrenal dysfunction (Cushing’s disease, congenital adrenal hyperplasia, or Cushing’s syndrome), or ovarian lesions (such as polycystic ovary syndrome or ovarian neoplasm); prolactinoma; and iatrogenic factors (such as the use of minoxidil, androgenic steroids, testosterone, diazoxide, glucocorticoids, and hormonal contraceptives). Other kinds of hirsutism have been reported. (See Hypertrichosis.)
Diagnosis
* Mental Health: Home Testing: - Home Emotional Stress Tests
Treatment
* PCOS and idiopathic –Estrogen-predominant oral contraceptives decrease plasma androgens –Depo-Provera may also be used –Spironolactone works by competing for androgen receptors –Cimetidine has a side effect of decreasing testosterone and increasing estrogen levels –GnRH agonist to facilitate better function of the hypothalamic-pituitary axis * Drug-induced: Eliminate causative medication if possible and hirsutism may resolve spontaneously * Hyperprolactinemia: Bromocriptine (prolactin antagonist)
Resources
Hirsutism skeletal dysplasia mental retardation: Another name for Wiedemann Oldigs Oppermann syndrome