CH 3 Genetic Disorders & Sex Chromosome Abnormalities

Question 1

Characteristics of Turner’s Syndrome

Answer 1

sexual infantilism with ovarian streaks, short stature, 45 x chromosome complement (in 2/3) and 2 or more somatic anomalies (webbing of neck, cubitus valgus, retardation of growth, shield chest, overweight, high palate, micrognathia, epicanthal folds, low set ears, hypoplasia of nails, osteoporosis, pigmented moles, HTN, lymphedema, cutis laxa, keloids, coarctation of aorta, mental retardation, intestinal telangiectasia, and deafness)

Question 2

True Hermaphroditism - definition

Answer 2

Patient has both ovarian and testicular tissue

Question 3

Klinefelter’s syndrome

Answer 3

Testis develops with up to 4 Xs and only 1 Y

Question 4

Diagnosis of true hermaphroditism and rearing

Answer 4

Firm diagnosis possible after onset of puberty, but should be made in infancy. In the past they have been reared as males (due to look of external genitalia) but most should be reared as females since most develop breast and many have a period

Question 5

Klinefelter’s syndrome signs and symptoms

Answer 5

Occurs only in males. Characterized by small testes, azoospermia, gynecomastia, relatively normal external genitalia. Disease usually not recognized until 16-40 years old. Some have mental retardation

Question 6

Klinefelter’s syndrome labs

Answer 6

excessive amount of pituitary gonadotropin in urine or serum assay

Question 7

Klinefelter’s syndrome Treatment

Answer 7

no treatment. May have breasts removed in gynecomastia, May have testosterone replacement in those with symptoms of hypoleydigism. Donor sperm may be offered in cases of infertility