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18 Cards in this Set

  • Front
  • Back
What are the features of Turner's Syndrome?
High arched palate, low-set prominent ears, low posterior hairline, cubitus valgus, shield chest, pigmented nevi, carctation of the aorta, normal intelligence, and streak ovaries.
What is mosaicism?
The development of two or more cell lines in one individual.
What is the most common genotype of one who has mosaicism and a Y chromosome?
What happens to those patients with a Y chromosome, mosaicism, and gonads?
Prophylactic removal of the gonad because it has a tendency to develop a gonadal malignancy.
What is "pure gonadal dysgenesis" or "gonadal agenesis?"
These are patients who have streak gonads and sexual infantilism but lack the other stigmata of Turner's; their genotype is 46 XX or 46 XY.
What are paties with Pure Gonadal Dysgenesis and a Y chromosome at risk for?
Dysgerminoma and Gonadoblastoma
What is Kleinfelter's Syndrome?
Patients who are phenotypic males with an XXY karyotype.
What are the characteristics of Kleinfelter's?
Small testicles, azoospermia, hyalinization of semineferous tubules, low circulating testosterone levels, gynecomastia, excessive growth in long bones (lower extremities > upper), inc incidence of MR
Does the extra X chromosome of Kleinfelter's come from the mother or the father, and what does this suggest about the problem of division?
75% of the time, the extra X chromosome comes from the mother, suggesting meiotic non-disjunction during oogenesis.
What is the genotype and phenotype of a male pseudohermaphrodite?
46 XY and gonads are testicles (although testicles may not be readily apparent, so the pt can appear female).
What are the possible causes of male pseudohermaphroditism?
Deficient androgen formation, androgen insensitivity, and 5-alpha-reductase deficiency.
What is the most common cause of male pseudohermaphroditism, and what are its characteristics?
Androgen Insensitivity: the result of an abnormal androgen receptor, inherited as X-linked; have intra-abdominal testes, normal external female genitalia (phenotypically female), vagina ends in blind pouch. Pts have inc circulating testosterone and LH; testosterone serves as a substrate for estrogen production through aromatase; they are also at risk for gonadal malignancy (Y chromosome).
What are the characteristics of 5-alpha reductase deficiency?
Penis at Twelve: dec dihydrotestosterone; auto. recessive; severe hypospadias and variable dev of vagina w/ no mullerian structures. Pts undergo marked virilization at time of puberty.
What are the characteristics/causes of female pseudohermaphroditism?
46 XX; nl ovarian tissue/internal genitalia; usu result of deficiencies of enzymes involved in steroid synth.: Congential Adrenal Hyperplasia, 21-Hydroxylase Deficiency, 11-beta-Hydroxylase Deficiency.
What is congenital Adrenal Hyperplasia?
Dec ability of adrenal gland to secrete cortisol, which inc ACTH and results in overproduction of steroids not dependent on defcient enzyme; Autosomal Recessive
What is the most common form of CAH and what are its features?
21-Hydroxylase Deficiency: due to the inc ACTH there is inc prod of DHEA-S, Androstenedione, and Testosterone. Probs incl electrolyte imalance (hypo-Na, hyper-K, dehydration)
What is 11-beta-Hydroxylase deficiency?
There is inc 11-DOC (precursor of aldosterone) and androgen prod; results in hypertension and masculinization.
What is true hermaphroditism?
Coexistence of ovarian and testicular tissue. 70% have XX karyotype. Phenotypically there is wide variation.