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Repro / GU > SM_199b: Sexual Differentiation: Normal and Abnormal > Flashcards

SM_199b: Sexual Differentiation: Normal and Abnormal Flashcards

1
Q

Describe sex development

A

Sex development

  1. Chromosomal sex
  2. Sex differentiation via ovary-determining genes or testis-determining genes
  3. Gonadal sex
  4. Sexual differentiation via gonadal steroids
  5. Phenotypic sex
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2
Q

Chromosomal sex is developed via ____

A

Chromosomal sex is developed via meiosis

(nondisjunction can occur)

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3
Q

Describe development of gonadal sex

A

Gonadal sex development

  1. First few weeks: gonad starts to develop primordial germ cells in yolk sac
  2. 5-6th week: urogenital ridge develops further and germ cells migrate from hindgut to genital ridge
  3. Differentiation occurs by 8 weeks of differentiation
  4. Ovary develops later after week 10 and requires presence of germ cells
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4
Q

____ is necessary for development of gonads and adrenal glands

A

SF1 is necessary for development of gonads and adrenal glands

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5
Q

____ and ____ must act for testis formation

A

SRY and SOX9 must act for testis formation

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6
Q

___ must be suppressed and ___ active for ovarian development

A

SOX9 must be suppressed and WNT4 active for ovarian development

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7
Q

Describe development of reproductive tract

A

Reproductive development tract

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8
Q

Sertoil cells secrete ____ to promote Mullerian regression

A

Sertoil cells secrete AMH to promote Mullerian regression

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9
Q

Leydig cells secrete ____ and ____ to promote male sexual differentation

A

Leydig cells secrete testosterone and DHT to promote male sexual differentation

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10
Q

Describe AMH (anti-mullerian hormone)

A

AMH (anti-mullerian hormone)

  • Produced by Sertoil cells
  • Regulated by SF1 and SOX9
  • Causes regression of mullerian structures
  • Paracrine effects: AMH from testis causes regression on ipsilateral side
  • Described human mutations of AMH are in 46 XY individuals with persistent mullerian duct syndrome
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11
Q

5 alpha reductase 2 mediates ____ and is required for ____

A

5 alpha reductase 2 mediates conversion of testosterone to dihydrotestosterone and is required for masculinization of external genitalia

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12
Q

Describe phenotypic sex development

A

Phenotypic sex development

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13
Q

Compare and contrast 46 XY and 46 XX development

A

46 XY and 46 XX development

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14
Q

Sex development and gender development are ____

A

Sex development and gender development are different

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15
Q

Disorders of sexual development can present at ___

A

Disorders of sexual development can present at any time

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16
Q

Describe disorders of sexual development

A

Disorders of sexual development

  • Sex chromosome DSD
  • 46 XY DSD: disorders of gonadal development, disorders of androgen synthesis or action
  • 46 XX DSD: disorders of gonadal development, androgen excess
17
Q

Described mixed gonadal dysgenesis

A

Mixed gonadal dysgenesis

  • Variable external genitalia
  • Variable internal genitalia
  • Often asymmetric
  • Gender identity: more male but varies
  • Pubertility / fertility: may produce testosterone and sperm
  • Increased rate of germ cell tumor
18
Q

Describe overtesticular DSD

A

Overtesticular DSD

  • Variable external genitalia
  • Variable internal genitalia
  • Gender identity: varies
  • Puberty / fertility: can produce testosterone or estrogen, subfertility but can produce sperm or eggs
  • Mildly increased rate of germ cell tumor
19
Q

Compare and contrast mixed gonadal dysgenesis and ovotesticular DSD

A

Mixed gonadal dysgenesis and ovotesticular DSD

20
Q

Describe 46 XY DSD

A

46 XY DSD

  • Disorders of gonadal development affect gonadal sex
  • Disorders of androgen synthesis or action affect phenotypic sex
21
Q

Describe complete gonadal dysgenesis

A

Complete gonadal dysgenesis

  • Female-typical external genitalia
  • Mullerian structure present
  • Gender identity: usually female
  • No puberty, no gametes, but can carry pregnancy
  • Increased rate of germ cell tumor
22
Q

Describe partial gonadal dysgenesis

A

Partial gonadal dysgenesis

  • Variable external genitalia
  • Variable internal genitalia
  • Gender identity varies
  • Testosterone and sperm but varies based on testicular function
  • Increased rate of germ cell tumor
23
Q

Compare and contrast complete gonadal dysgenesis, partial gonadal dysgenesis, and ovotesticular DSD

A

Complete gonadal dysgenesis, partial gonadal dysgenesis, and ovotesticular DSD

24
Q

Describe complete androgen insensitivity syndrome

A

Complete androgen insensitivity syndrome

  • Female-typical external genitalia
  • No mullerian structures
  • Gender identity: usually female
  • Testosterone converted to estrogen, no gametes
  • Mildly increased rate of germ cell tumor
25
Describe partial androgen insensitivity syndrome due to AR mutation
Partial androgen insensitivity syndrome due to AR mutation * Variable external genitalia * Gender identity varies * Variable testosterone effect, sperm production possible * Increased rate of germ cell tumor
26
Describe partial androgen insensitivity syndrome due to 5-alpha reductase deficiency
Partial androgen insensitivity syndrome due to 5-alpha reductase deficiency * Variable external genitalia * Gender identity: more often male * Some testosterone at puberty, sperm production possible * No increased rate of germ cell tumor
27
Compare and contrast complete androgen insensitivity, partial androgen insensitivity, and 5-alpha reductase deficiency
Complete androgen insensitivity, partial androgen insensitivity, and 5-alpha reductase deficiency
28
Describe 46 XX DSD
46 XX DSD * Disorders of gonadal development affect gonadal sex * Androgen excess affects phenotypic sex
29
Compare and contrast testicular DSD and ovotesticular DSD
Testicular DSD (XX + SRY) and ovotesticular DSD
30
Describe CAH due to 21 hydroxylase deficiency (salt-wasting)
CAH due to 21 hydroxylase deficiency (salt-wasting)
31
Describe congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency * Salt-wasting * Cortisol deficiency * Low Na, high K * Lethargy, poor feeding * Starts at 5-7 days of life * Replace with Florinef and Cortef * Gender idnetity is usually female * Estrogen and eggs
32
Infant with penoscrotal hypospadias, scrotal tissue rugated on the right but flat on left, right testis palpable in scrotum but left testis nonpalpable Ultrasound: small mullerian structure present Most likely diagnosis is \_\_\_\_
Infant with penoscrotal hypospadias, scrotal tissue rugated on the right but flat on left, right testis palpable in scrotum but left testis nonpalpable Ultrasound: small mullerian structure present Most likely diagnosis is mixed gonadal dysgenesis (asymmetry)
33
Infant born with prominent clitorophallic structure, single urogenital sinus, fused labioscrotal tissue (no hyperpigmentation or rugation), no palpable gonads Ultrasound: Mullerian structure present Karyotype: 46 XX Most likely diagnosis is \_\_\_\_
Infant born with prominent clitorophallic structure, single urogenital sinus, fused labioscrotal tissue (no hyperpigmentation or rugation), no palpable gonads Ultrasound: Mullerian structure present Karyotype: 46 XX Most likely diagnosis is CAH due to 21-hydroxylase deficiency
34
A 16 year old girl presents with primary amenorrhea. She began breast development at age 11 years. Pubic hair is Tanner 2. She has a few wispy axillary hairs. On exam, her external genitalia appears phenotypically female but you palpate 2 inguinal masses. Most likely diagnosis is \_\_\_\_
A 16 year old girl presents with primary amenorrhea. She began breast development at age 11 years. Pubic hair is Tanner 2. She has a few wispy axillary hairs. On exam, her external genitalia appears phenotypically female but you palpate 2 inguinal masses. Most likely diagnosis is complete androgen insensitivity syndrome

Repro / GU (46 decks)

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