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18 Cards in this Set
- Front
- Back
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What are the features of Turner's Syndrome?
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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.
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What is mosaicism?
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The development of two or more cell lines in one individual.
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What is the most common genotype of one who has mosaicism and a Y chromosome?
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XO/XY
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What happens to those patients with a Y chromosome, mosaicism, and gonads?
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Prophylactic removal of the gonad because it has a tendency to develop a gonadal malignancy.
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What is "pure gonadal dysgenesis" or "gonadal agenesis?"
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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.
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What are paties with Pure Gonadal Dysgenesis and a Y chromosome at risk for?
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Dysgerminoma and Gonadoblastoma
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What is Kleinfelter's Syndrome?
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Patients who are phenotypic males with an XXY karyotype.
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What are the characteristics of Kleinfelter's?
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Small testicles, azoospermia, hyalinization of semineferous tubules, low circulating testosterone levels, gynecomastia, excessive growth in long bones (lower extremities > upper), inc incidence of MR
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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?
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75% of the time, the extra X chromosome comes from the mother, suggesting meiotic non-disjunction during oogenesis.
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What is the genotype and phenotype of a male pseudohermaphrodite?
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46 XY and gonads are testicles (although testicles may not be readily apparent, so the pt can appear female).
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What are the possible causes of male pseudohermaphroditism?
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Deficient androgen formation, androgen insensitivity, and 5-alpha-reductase deficiency.
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What is the most common cause of male pseudohermaphroditism, and what are its characteristics?
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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).
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What are the characteristics of 5-alpha reductase deficiency?
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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.
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What are the characteristics/causes of female pseudohermaphroditism?
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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.
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What is congenital Adrenal Hyperplasia?
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Dec ability of adrenal gland to secrete cortisol, which inc ACTH and results in overproduction of steroids not dependent on defcient enzyme; Autosomal Recessive
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What is the most common form of CAH and what are its features?
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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)
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What is 11-beta-Hydroxylase deficiency?
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There is inc 11-DOC (precursor of aldosterone) and androgen prod; results in hypertension and masculinization.
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What is true hermaphroditism?
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Coexistence of ovarian and testicular tissue. 70% have XX karyotype. Phenotypically there is wide variation.
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