Term
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Definition
| informs gonadal sex of chromosomal sex. gonads then give hormonal output which informs phenotypic sex. |
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Term
| gonad differentiation determined by |
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Definition
| TDF - produced from SRY gene on Y chromosome |
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Term
| genes other than sry in differentiation |
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Definition
| Sox9(differentiation like sry), WT1(Wilms), SF1(regulates AMH), DSS (inhibits sry and makes ovaries) |
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Term
| no AMH AND no testosterone |
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Definition
| vs. testosterone AND AMH. internal ductile system. |
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Term
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Definition
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Term
| DHT AND androgen receptor |
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Definition
| vs. no DHT OR no androgen receptor. external genitalia. |
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Term
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Definition
| pseudovaginal perineoscrotal hypospadias |
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Term
| what do you need for evaluating for DSD? (6) |
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Definition
| absence of testes in males (but otherwise normal phenotype) and vice versa, OR hypospadias + undescended testis, OR perineal hypospadias. Female- clitoral hypertrophy, hernia with gonad, fused labia minora |
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Term
|
Definition
| having both ovaries and testicles |
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Term
| exogenous reasons for virilization of females |
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Definition
| only 10% of cases; tumor, or maternal adrogen ingestion |
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Term
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Definition
| 21-hydroxylase (90% cases), 50-65% of them present with vascular collapse and salt wasting, increased 17-OH progesterone in the serum. 11-beta hydroxylase: salt retention. 3 beta ol dehydrogenase: rare, fatal, severe salt wasting, ambiguous genitalia in BOTH sexes |
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Term
| indication for CAH screening / what to test |
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Definition
| previous child with it. test for 17-hydroxyprogesterone(2nd trimester only), 21-hydroxylase gene |
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Term
|
Definition
| 2nd trimester; 1st trimester = chorionic villous sampling |
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Term
|
Definition
| dexamethasone - begin at 6th week to prevent adrenal androgen production |
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Term
| where can things go wrong in male sexual differentiation (4) |
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Definition
| androgen receptor, testosterone, 5alpha-reductase, MIF |
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Term
|
Definition
| X-linked recessive, amenorrhea, inguinal hernia with testis in female, maybe ambiguous genitalia, maybe palpable gonads in a female = testicular feminization |
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Term
| 5alpha-reductase deficiency |
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Definition
| pseudo-vaginal perineoscrotal hypospadias, inguinal testes palpable, nonvirilized until puberty |
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Term
| pigmented ambiguous genitalia |
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Definition
|
|
Term
| ambiguous genitalia radiography (2) |
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Definition
| genitogram (contrast) or ultrasound |
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|
Term
| ambiguous genitalia cytogenetics |
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Definition
| buccal smear (barr body, fluorescent), karyotype (FISH) |
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Term
| ambiguous genitalia biochemistry (6) |
|
Definition
| serum more effective than urine; serum: electrolytes, testosterone, 17-OH progesterone. urine: 17 ketosteroid (steroids), 17 OH P |
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Term
| determining sexual assignment (5) |
|
Definition
| prognosis for fertility, sexual orientation, gender identity, underlying etiology of ambiguity, appearance and prospect for reconstruction |
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Term
|
Definition
| feminization of boys and girls, virilization of boys, removing potentially cancerous gonads |
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Term
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Definition
|
|
Term
| if surgery to change sex of rearing is done neonatally |
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Definition
| testosterone probably won't matter, but if done at age 6 months then it won't "work". = neonatal imprinting, prenatal imprinting |
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Term
|
Definition
| at least half boys changed to girls had gender identity issues. maximal testosterone imprinting. REINER data. |
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Term
|
Definition
| female, for fertility purposes |
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|
Term
| penile agenesis usually raised how |
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Definition
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Term
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Definition
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|
Term
| fertility ensured with mullerian derivatives? |
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Definition
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