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25 Cards in this Set
- Front
- Back
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1. Virilization?
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a. Masculinization where infant girls exhibit clitoromegaly, labial fusion, and labial pigmentation.
b. Infant boys usually appear normal |
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2. Goals of evaluation of infant w/ambiguous genitalia?
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a. Determine the aetiology of the intersex problem
b. Assign gender c. Intervene w/surgical or other treatment asap. |
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3. 4 Intersex abnormalities (just to prep)?
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1. Female Pseudohermaphrodite
2. Male Pseudohermaphrodite 3. True hermaphrodite 4. Mixed gonadal dysgenesis. |
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4. Female Pseudohermaphrodite?
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a. 46, XX
b. Largest neonatal group w/ambiguous genitalia c. Predominant aetiology is CAH. d. Rarer aetiologies include exposure to maternal androgens/progestins and congenital vaginal absence with uterine absence or abnormality. e. Degree of masculinization depends on stage of development at time of androgenic stimulation and potency and duration of exposure. |
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5. Male Pseudohermaphrodite (46, XY) aetiologies?
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a. Testosterone dyssynthesis
b. 5α-reductase/dihydrotestosterone deficiency c. Decreased androgen binding to target tissues (androgen insensitivity syndrome= most common form of male Pseudohermaphroditism. |
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6. How do male Pseudohermaphrodites typically appear?
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a. Phenotypical females w/functioning testicular tissue, variable incomplete virilization of genitalia, and short, pouch-like vaginas.
b. Typically diagnosed at puberty when primary amenorrhea noted. |
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7. Tx of male Pseudohermaphrodites?
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a. Maintain as females and offer vaginoplasty.
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8. Karyotype of true hermaphrodites?
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a. 70% 46, XX. Remainder 46 XY or mosaic.
b. Comprises <10% of all intersex cases. |
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9. Pathophys and Presentation of true hermaphrodites?
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a. Bilateral ovotestes or ovary and testis on opposite sides.
b. Testicular tissue determines degree of virilization. c. Gender assigment based on genitalia appearance (approximately 75% assigned male gender). d. Contradictory reproductive structures removed in older pts w/assigned gender. |
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10. Mixed gonadal dysgenesis karyotype and pathophys?
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a. 46, XY/45,XO.
b. Testis w/Sertoli and Leydig cells, but no germinal elements, on one side and streak gonad on the other. |
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11. Pathophys of Mixed gonadal dysgenesis?
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a. Hypospadias, partial labioscrotal fusion, and undescended testes most common (incompletely virilised male appearance)
b. Usually assigned female gender and undergo gonadectomy (25% of streak gonads develop malignancy). c. Assign as male if testes descended. |
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12. Critical findings on PE of ambiguous infant?
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a. Presence or absence of a testis in the labioscrotal compartment.
b. Hyperpigmentation of the labioscrotal folds (common in infants w/CAH). c. Phallic size and location of urethral opening. d. Palpation of a uterus on bimanual exam. e. Evidence of failure to thrive (failure to regain birth weight, progressive weight loss, vomiting. f. Dehydration. |
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13. Most important factor in determining an infant’s sex assignment?!?!
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a. Phallic size.
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14. Test to order if CAH is suspected?
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a. 17α-hydroxyprogesterone level.
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15. Plasma testosterone levels?
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a. Alone, are usually NOT helpful.
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16. What test helps to determine whether there is a block in testosterone synthesis or 5α-reductase deficiency exists?
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a. Measuring urinary steroids and plasma androgens before and after administration of ACTH (corticotropin) and hCG.
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17. Tx of ambiguous genitalia?
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a. Bc the presence of ambiguous external genitalia may reinforce doubt about the sexual identity of the infant, reconstructive surgery is performed as early as medically and surgically feasible, usually before 6 months of age.
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18. Most common surgical procedure for female pseudohermaphrodites, true hermaphrodites, and in male pseudohermaphrodites reared as females?
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a. Feminizing genitoplasty.
b. The goal of this surgery is to reduce the size of the clit while maintaining vascularity and innervation, feminizing labioscrotal folds, and ultimately creating a vagina. c. Gonadectomy is also mandatory bc of the high incidence of gonadal tumours in individuals w/certain forms of gonadal dysgenesis. |
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19. Tx of males w/hypospadias?
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a. Often requires multiple procedures to create a phallic urethra.
b. Circumcision is avoided in these individuals bc the foreskin is commonly used for reconstruction. |
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20. Tx of CAH?
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a. Hydrocortisone. Helps to inhibit excessive production of androgens and further virilization.
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21. Tx of hypogonadal pts at expected time of puberty?
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a. Hormone substitution therapy, so that 2° sexual characteristics develop.
b. Oral oestrogenic hormone substitution is initiated in female c. Repository testosterone injections are given to males |
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22. Which 2 types of ambiguity are exceptions to the general rule that disorders that cause ambiguous genitalia usually lead to infertility?
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1. Female pseudohermaphrodites
2. True hermaphrodites. |
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23. Gonad in labioscrotal fold plus Uterus and ovary on sonograph, think?
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a. True hermaphrodite.
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24. Symptoms of Prader-Willi?
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a. At birth:
1. Marked hypotonia 2. Small penis 3. Unilateral cryptorchidism 4. Hypogonadism b. By 6 yrs: 1. Hyperphagia 2. Obesity 3. Mental Retardation 4. Appearance of bizarre behaviour |
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25. complete
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25. complete
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