Normal and abnormal development of GT [Autosaved] (1)

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What is the purpose of the sex chromosomes in embryonic development?

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1

What is the purpose of the sex chromosomes in embryonic development?

They control the differentiation of the fertilized embryo into a male or female fetus.

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2

What is the genetic female karyotype?

XX.

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3

What is the genetic male karyotype?

XY.

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4

What gene directs the gonad to become a testis?

SRY gene.

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5

What happens in the absence of a Y chromosome?

The bipotential gonad differentiates into an ovary.

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6

What is gonadal sex dependent on?

The presence of testes in males and ovaries in females.

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7

Which ducts are present in all fetuses?

Both Mullerian and Wolffian ducts.

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8

What characterizes phenotypic sex?

It is determined by the appearance of external genitalia and secondary sexual characteristics.

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9

What are Müllerian ducts in females?

They develop passively to form fallopian tubes, uterus, and upper vagina.

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10

What hormone do Sertoli cells produce to suppress female internal genitalia development?

Müllerian-inhibiting substance (MIS) or anti-Müllerian hormone (AMH).

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11

What is the maximum number of primordial follicles present at 20 weeks gestation?

Six to seven million.

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12

What is gametogenesis?

The process where germ cells undergo meiotic division, reducing their chromosome number to haploid.

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13

What do the Wolffian ducts develop into in males?

Epididymis, vas deferens, and seminal vesicles.

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14

What occurs when testosterone is absent in males during development?

Regression of the Wolffian ducts.

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15

What happens under the influence of dihydrotestosterone during external genitalia development?

Determines the development of male external genitalia such as the penis.

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16

What do the genital tubercle and urogenital sinus develop into in females due to the absence of masculinization?

The clitoris and lower vagina/labia minora.

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17

What is ambiguous genitalia?

A condition where an individual's biological sex cannot be clearly classified as male or female.

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18

What are disorders of sex development (DSD)?

Congenital conditions where the development of chromosomal, gonadal, or anatomical sex is atypical.

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19

Which condition is characterized by a chromosomal sex of a female with male external genitalia?

Female pseudohermaphroditism.

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20

What causes male pseudohermaphroditism?

A chromosomal sex of a male with female external genitalia.

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21

Which syndrome is associated with 45XO karyotype?

Turner syndrome.

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22

What hormone deficiency is associated with congenital adrenal hyperplasia?

Deficiency of 21-hydroxylase resulting in excess androgens.

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23

What is the primary clinical presentation of Turner syndrome?

Primary amenorrhea and delayed or absent pubertal development.

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24

What is the significance of the SRY gene in sexual development?

It initiates testis development and male differentiation.

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25

What does the term 'gonadal dysgenesis' refer to?

A condition where the gonads do not develop properly.

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26

What condition refers to the presence of both ovarian and testicular tissues?

True hermaphroditism.

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27

What might be a treatment approach for ambiguous genitalia?

Plastic surgery and hormonal therapy.

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28

What is the genetic sex of a person with Klinefelter syndrome?

47,XXY.

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29

What is the function of androgen receptors in sexual differentiation?

They mediate the effects of androgens during the development of male external genitalia.

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30

What can excessive exposure to androgens during pregnancy cause in female fetuses?

Masculinization of external genitalia.

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31

What is the most common disorder of sex development?

Congenital adrenal hyperplasia.

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32

Which syndrome is characterized by a 46,XY karyotype with female external genitalia?

Androgen insensitivity syndrome.

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33

What hormonal treatment is often required for individuals with Turner syndrome?

Hormone replacement therapy (HRT).

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34

What do the abdominal gonads from the undescended testes present a risk for?

Malignancy.

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35

What happens to the Müllerian ducts in the presence of testosterone?

They regress in males due to AMH.

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36

What is a common finding at birth for children with congenital adrenal hyperplasia?

Ambiguous genitalia.

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37

What role does estrogen play in treatment for Turner's syndrome?

It supports the development of secondary sexual characteristics.

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38

What is a major complication of untreated Turner syndrome?

Osteoporosis.

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39

What is the chromosomal pattern associated with mixed gonadal dysgenesis?

46XY/45X mosaic.

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40

What can maternal exposure to androgens during pregnancy induce?

Masculinization of female external genitalia.

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41

What is a characteristic phenotype of Turner syndrome?

Short stature with webbed neck.

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42

What is one of the clinical presentations of androgen insensitivity syndrome?

Primary amenorrhea.

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43

What is necessary for the ovary to develop properly?

Intact germ cells.

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44

What condition describes a female with XY chromosomes and absence of functional androgen receptors?

Androgen insensitivity syndrome.

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45

What surgical procedures might individuals with ambiguous genitalia undergo?

Gonadectomy and plastic surgery.

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46

What hormonal dysfunction is noted in congenital adrenal hyperplasia?

Inadequate cortisol production leading to hyperplasia.

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47

What type of surgery might be performed to correct genital appearance in individuals with ambiguous genitalia?

Plastic surgery.

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48

What are sex chromosomes responsible for in development?

They determine the chromosomal sex of an individual.

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49

What is the role of the SRY gene?

SRY gene triggers the formation of testes in a developing embryo.

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50

What are the two primary types of sex chromosomes?

X and Y chromosomes.

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51

What does the presence of an SRY gene prompt?

The development of male reproductive structures.

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52

What happens to gonads in the absence of a Y chromosome?

They develop into ovaries.

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53

What are the embryonic structures present in both sexes?

Müllerian and Wolffian ducts.

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54

How does the Wolffian duct contribute to male reproductive anatomy?

It develops into the epididymis, vas deferens, and seminal vesicles.

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55

What is the impact of androgens on the Wolffian duct?

Androgens are required for the Wolffian ducts to develop into male structures.

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56

What is the process by which sperm are produced?

Spermatogenesis.

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57

What controls the growth of primordial follicles in females?

Gonadotropins such as FSH (follicle-stimulating hormone).

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58

What is the result of testosterone action on the Müllerian ducts in males?

Regression of the Müllerian ducts.

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59

What are secondary sexual characteristics?

Features that appear at puberty, influenced by sex hormones.

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60

What does congenital adrenal hyperplasia affect?

Hormonal production in adrenal glands leading to abnormal sexual development.

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61

What is the defining feature of androgen insensitivity syndrome?

Genetic males have female external genitalia.

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62

What does the term 'pseudohermaphroditism' imply?

An individual has both male and female characteristics but with a typical chromosomal sex.

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63

What results from a chromosomal pattern associated with Turner syndrome?

A female phenotype with a 45,X karyotype.

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64

What hormonal therapy might individuals with Turner syndrome require?

Hormone replacement therapy (HRT) for estrogen.

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65

What does the term 'gonadal dysgenesis' refer to?

Improper development of the gonads.

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66

What is a clinical presentation of Klinefelter syndrome?

Presence of male external genitalia with reduced testosterone levels.

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67

How does the body respond to excess androgens in fetal development?

Potential masculinization of female external genitalia.

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68

What is the chromosomal makeup of Klinefelter syndrome?

47, XXY.

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69

What surgical options are available for individuals with ambiguous genitalia?

Gonadectomy and reconstructive surgery.

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70

What can excessive exposure to estrogens in fetuses cause?

Alterations in sexual differentiation.

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71

What is the primary function of the Müllerian-inhibiting substance?

To prevent the development of female reproductive structures in males.

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72

What role does genetic testing play in disorders of sexual development?

It helps diagnose DSD by identifying chromosomal abnormalities.

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73

What is the significance of the genital tubercle in development?

It differentiates into external genitalia based on hormonal influence.

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74

What is a characteristic feature of 47,XXX karyotype?

Often associated with minimal physical effects, but potential for developmental delays.

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75

What is the impact of testicular feminization syndrome (TFM)?

Males with TFM have female external phenotype due to androgen receptor insensitivity.

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76

What do people with Turner syndrome typically lack?

Ovaries, resulting in infertility and short stature.

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77

What is ambiguous genitalia indicative of?

Potentially a mismatch between genetic and phenotypic sex.

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78

___ is the process by which the ovary develops from the bipotential gonad.

Ovarian differentiation.

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79

The presence of ___ leads to the development of male internal reproductive structures.

Testosterone.

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80

___ is a condition where individuals have a typical female karyotype but male external genitalia.

Androgen insensitivity syndrome.

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81

The main role of ___ in males is to promote the development of male secondary sexual characteristics.

Testosterone.

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82

In the absence of androgens, the Wolffian ducts ___ during development.

Regress.

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83

___ is the name of the gene that initiates the formation of testes.

SRY.

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84

The ___ are responsible for producing sperm in males after puberty.

Testes.

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85

The primary functions of the ___ are to store and mature sperm.

Epididymis.

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86

The Mullerian ducts develop into the ___, ___, and upper vagina in females.

Fallopian tubes, uterus.

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87

Congenital adrenal hyperplasia leads to an excess of ___ production.

Androgens.

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88

A chromosomal pattern of 46,XX with male external genitalia indicates ___.

Female pseudohermaphroditism.

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89

___ can cause the XY karyotype to exhibit female characteristics due to androgen receptor insensitivity.

Androgen insensitivity syndrome.

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90

Testosterone acts on the ___ to stimulate the development of male external genitalia.

Genital tubercle.

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91

The ___ is the primary hormone produced by the ovaries.

Estrogen.

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92

___ are needed to initiate the menstrual cycle in females.

Gonadotropins.

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93

Individuals with Turner syndrome often present with short stature and ___ neck.

Webbed.

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94

In females, the primary site of gametogenesis is the ___.

Ovary.

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95

___ occurs when there is a discrepancy between an individual's chromosomal and phenotypic sex.

Disorder of sex development (DSD).

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96

In males, the presence of the ___ hormone leads to regression of the Müllerian ducts.

Müllerian-inhibiting substance (MIS).

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97

In Turner syndrome, the karyotype is typically ___.

45,X.

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98

The clinical presentation of ___ syndrome typically includes infertility and primary amenorrhea.

Turner.

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99

In typical male development, the genital tubercle develops into the ___.

Penis.

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100

___ is the medical term for ambiguous genitalia at birth.

Intersex condition.

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