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Endo/Repro Exam 2 > Genetic Related Developmental Sex Disorders > Flashcards

Genetic Related Developmental Sex Disorders Flashcards

1
Q

What is aneuploidy?

A

Unequal distribution of one pair of homologous chromosomes to the daughter cells

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2
Q

When does aneuploidy occur?

A

When daughter sex cells split

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3
Q

What is mosaicism?

A

Nondisjunction during early cleavage of the zygote

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4
Q

When does mosaicism occur?

A

When zygotes split

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5
Q

What does every extra X chromosome found in a human cause?

A

Adds a 15% chance of retardation for each extra X

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6
Q

What is a true hermaphrodite?

A

Has both testes and ovaries in the same body (can be contained in the same structure or separate)

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7
Q

What is a pseudohermaphrodite?

A

Male with testes but wrong external genitalia or female with ovaries but wrong external genitalia

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8
Q

What aneuploidy disorders occur in females?

A

Turner’s Syndrome 45 XO

47 XXX

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9
Q

What aneuploidy disorders occur in males?

A

Klinefelter’s Syndrome 47 XXY

47 XYY

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10
Q

What sex genetic mutations occur only in females causing pseudohermaphroditism?

A

Congenital adrenal hyperplasia

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11
Q

What sex genetic mutations occur only in males causing pseudohermaphroditism?

A

Testosterone insensitivity

5a-reductase deficiency

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12
Q

Frequency of Turner’s Syndrome:

A

1/8000 live female births

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13
Q

Intelligence in Turner’s Syndrome?

A

Normal intelligence

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14
Q

What are the key features in Turner’s Syndrome?

A

Stature below 5 feet
Infertile
Lymph stasis in infants of hand foot and neck
Bilateral webbing of the neck
Complete loss of oocytes by 2 years old
Preductal coarctation (BP high in upper extremity low in lower extremity)

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15
Q

What is Klinefelter Syndrome?

A

47 XXY Male (can be XXXY, XXY, XYY)

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16
Q

What is Turner’s syndrome?

A

45 XO

17
Q

What does a Klinefelter patient present as?

A

Male with completely female features

18
Q

What is the histology of the testis in Klinefelter patients?

A

Pink
Hyaline
Collagenous ghosts
Atrophic tubules

19
Q

What happens to seminiferous tubules in Klinefelter?

A

They do not form leading to decreased inhibin and increased FSH

20
Q

What occurs to sex hormones in Klinefelter?

A

No Leydig cells to produce Testosterone so GnRH will increase but only effect is an increase in estradiol production

21
Q

Frequency of Klinefelter:

A

1/660 Male births

22
Q

What occurs in testosterone insensitivity?

A

Can be one of multiple reasons there is a dysfunction in androgen receptors

23
Q

What is elevated in testosterone insensitivity?

A

Testosterone and LH

24
Q

What is absent in testosterone insensitivity?

A

Mesonephric ducts
DHT
Prostate and external genitalia

25
Q

How is testosterone insensitivity differentiated from 17 alpha-hydroxylase deficiency?

A

Absence of hypertension

26
Q

Why are there no ovaries in testosterone insensitivity?

A

Because the testis are present therefore are the Sertoli cells to secrete AMH causing destruction of Wolffian ducts

27
Q

Why do testosterone insensitive males have female and not male external genitalia?

A

No DHT to form male secondary/external genitals

28
Q

Where are testis located in testosterone insensitive females?

A

In the Labia majora

29
Q

Why do the testis develop in testosterone insensitive females?

A

There is a Y chromosome to encode for them and not the default ovaries

30
Q

What does 5a-reducatase deficiency cause in males?

A

No DHT formation from Testosterone

31
Q

What is 5a-reductase deficiency genitalia like?

A

Testis with female genitalia

32
Q

What is different about 5a-reductase deficiency and testosterone insensitivity?

A

5a-reductase deficiency you have Wolffian duct since you have AR for testosterone to bind and activate Sertoli cells to release AMH and you develop a rudimentary penis when puberty hits bc the increase in testosterone

33
Q

What can cause female pseudohermaphroditism congenital adrenal hyperplasia?

A

21a-hydroxylase deficiency

11b-hydroxylase deficiency

34
Q

Key signs in 21a-hydroxylase deficiency?

A

Water wasting
Hypotension
Hyponatremia
Hyperkalemia

35
Q

Key signs in 11b-hydroxylase deficiency?

A

Water retention
Edema
Hypertension
Hypernatremia

36
Q

Why does congenital adrenal hyperplasia occur?

A

A deficiency in the enzymes forming mineralocorticoids or glucocorticoids will cause a shunting to the formation of androgens causing hyperplasia of the zona reticularis

Endo/Repro Exam 2 (18 decks)

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