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Human Reproduction > Week 1: Disorders of Sex Development > Flashcards

Week 1: Disorders of Sex Development Flashcards

1
Q

Describe the genital indifferent stage

A
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2
Q

Hypospadias

A
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3
Q

Anterior and posterior hypospadias

A
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4
Q

Male epispadias

A
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5
Q

Typical newborn female vs clitoral hyperplasia

A
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6
Q

Diagnosis of Atypical genitalia

A
  • Newborn exam
  • Newborn screening - CAH (congenital adrenal hyperplasia)
  • FISH
  • Karyotype
  • Labs
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7
Q

Labs for atypical genitalia

A
  • Chemistry
  • FSH
  • LH
  • Testosterone
  • Estradiol
  • Mullerian inhibiting substance (MIS)
  • Specific metabolites if suspecting adrenal hyperplasia
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8
Q

DSD classification system

A
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9
Q

Sex Chromosome DSD

A
  • 45, X (Turner Syndrome and variant)
  • 47, XXY (Klinefelter syndrome and variants)
  • 45, X/46, XY (MGD)
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10
Q

Questions

A
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11
Q

Turner syndrome karyotype

A
  • 45, XO
  • One functional X chromosome
  • 10% have 46, XY mosaicism -> risk for gonadoblastoma
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12
Q

Pathophysiology of Turner Syndrome

A
  • one functional X chromosome
  • Meiotic nondisjunction
  • no barr body
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13
Q

What is the most common cause of primary amenorrhea?

A

Turner syndrome

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14
Q

What Turner Syndrome karyotype carries a risk for gonadoblastoma?

A

46, XY mosaicism (10% of cases) have risk for gonadoblastoma

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15
Q

What is primary amenorrhea?

A

Menopause before menarche

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16
Q

Symptoms of Turner Syndrome

A

Also,

  • Pressure difference between the upper and lower extremities > 20 mmHg
  • Risk of aortic dissection in pregnancy
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17
Q

Turner Syndrome cardiovascular symptoms

A
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18
Q

Lab values of Turner Syndrome

A
  • Decreased Estrogen
  • Increased FSH
  • Increased LH
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19
Q

Streak gonads vs normal ovary

A
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20
Q

Sex chromosome Disorders of Sexual Development

A
  • 45, X or 46, XY mosaicism Turner Syndrome
  • 47, XXY Klinefelter syndrome
  • X/46, XY Mixed Gonadal Dysgenesis (MGD)
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21
Q

What is the most common sex chromosome disorder

A

Klinefelter Syndrome

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22
Q

Klinefelter Syndrome in childhood

A
  • May be a normal physical exam in childhood
  • May have developmental delay
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23
Q

Epidemiology of Klinefelter Syndrome

A
  • Most common sex chromosome disorder
  • Most common chromosomal cause for hypogonadism and subfertility
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24
Q

What is the most common chromosomal cause for hypogonadism and subfertility

A

Klinefelter syndrome

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25
Q

Karyotype features of Klinefelter syndrome

A
  • 47, XXY
  • Extra X - inactivated -> Barr body present
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26
Q

Klinefelter Syndrome symptoms

A
  • testis atrophy
  • Androgynous body shape
  • Tall with long extremities
  • Gynecomastia
  • Female hair distribution
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27
Q

Klinefelter Syndrome Lab findings

A
  • Testis atrophy - abnormal seminiferous tubules and abnormal leydig cell function
  • Decreased inhibin B -> increased FSH
  • Decreased Testosterone -> increased LH
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28
Q

What is the second most common cause of atypical and “unclassifiable” genital appearance at birth

A

Mixed Gonadal Dysgenesis

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29
Q

Mixed Gonadal Dysgenesis reproductive organs

A

Typically a streak gonad on one side and a testis, which may be undescended, on the other side

30
Q

Most common karyotype of MGD

A
  • 45, X
  • 46, XY mosaicism
31
Q

Mixed Gonadal Dysgenesis concerns

A

concerns for infertility and gonadoblastoma

32
Q

Karyotype of Ovotesticular DSD

A

46, XX

33
Q

Disorders of gonadal (ovary) development

A
  • Gonadal dysgenesis
  • Ovotesticular DSD
  • Testicular DSD (eg SRY, dup SOX9, dup SOX3, RSPO1, WNT4)
34
Q

Ovotesticular DSD was previosly known as?

A

Previously known as true hermaphroditism

35
Q

True hemaphroditism is now known as

A

Ovotesticular DSD

36
Q

Ovotesticular DSD reproductive organs

A
  • indicates that there is actual testicular and ovarian gonadal tissue
  • Most common phenotype is an ovotestis on one side and ovary on other side
37
Q

Ovotesticular DSD karyotype

A

Most common karyotype is 46, XX

38
Q

Ovotesticular DSD most common external anatomy

A

Most common external anatomy resembles male with severe hypospadias

39
Q

Question

A

D. Ovotestis and ovary

40
Q

Ovotesticular DSD most common external genitalia phenotype

A
41
Q

What is the most commonly encountered DSD is?

A

Congenital adrenal hyperplasia (CAH)

42
Q

46, XX DSD androgen excess pathologic mechanism

A

Enzyme deficiency -> decreased steroid -> increased metabolites and lack of ACTH suppression

43
Q

46, XX DSD androgen excess: What is the most common enzyme deficiency?

A

Most common enzyme deficiency is 21-hydroxylase (90%)

44
Q

46, XX DSD androgen excess: 21-hydroxylase deficiency

A
  • Virilization in infancy
  • Salt wasting in infancy
  • Precocious puberty in childhood
45
Q

Steroid synthesis pathway

A
46
Q

46, XX DSD androgen excess: 11-β Hydroxylase prevalence

A

5% of cases

47
Q

46, XX DSD androgen excess: 11-β Hydroxylase symptoms

A
  • Virilization and hypertension
  • Hypertension seconday to accumulation of DOC
48
Q

46, XX DSD androgen excess: 17α-Hydroxylase prevalence

A

Rare

49
Q

46, XX DSD androgen excess: 17α-Hydroxylase symptoms

A
  • HTN and lack of sex hormones
  • Male - ambiguous and undescended testes
  • Female - amenorrhea, lack of secondary sex development
50
Q

External genitalia of CAH

A
51
Q

Question

A

D. 21α-hydroxylase

52
Q

Question

A

C. 11Desoxycortisol

53
Q

Fetoplacental androgen excess types

A
  • Aromatase (CYP19) deficiency
  • Oxidoreductase (POR) deficiency
54
Q

Placental aromatase deficiency symptoms

A
  • Rare
  • Virilization of female infants - clitoral hyperplasia
  • May present with virilization of mother in 3rd trimester as fetal androgens cross placenta
  • Maternal serum -> increased testosterone, decreased estrogen
55
Q

Genitalia of Placental Aromatase deficiency

A
56
Q

5α-reductase deficiency inheritance pattern

A

Autosomal recessive

57
Q

5α-reductase deficiency pathophysiology

A

46, XY without conversion of T to DHT -> ambiguous genitalia until adolescence when increase T -> virilization and phallic growth

58
Q

5α-reductase deficiency lab values

A
  • Testosterone normal
  • Estrogen normal
  • LH may be increased or normal
59
Q

5α-reductase deficiency genitalia

A
60
Q

Androgen insensitivity syndrome

A
61
Q

Androgen insensitivty syndrome types

A
  • CAIS
  • PAIS
62
Q

Androgen insensitivty syndrome: CAIS

A
  • Defect in androgen receptor -> typical external female genital exam
  • Rudimentary vagina
  • Absent internal mullerian structures
  • May present with inguinal hernia in childhood
  • Amenorrhea
63
Q

Androgen insensitivty syndrome: CAIS genitals

A
64
Q

Kallmann syndrome pathophysiology

A

Defect with GnRH-releasing neurons and olfactory bulbs

65
Q

Kallmann syndrome symptoms

A
  • Hyposmia or anosmia
  • Infertility in males
  • amenorrhea in females
  • hypogonadotropic hypogonadism
66
Q

Kallmann syndrome lab values

A
  • Decreased FSH
  • Decreased LH
  • Decreased estrogen/testosterone
67
Q

What is Hyposmia or anosmia

A

Hyposmia, or microsmia, is a reduced ability to smell and to detect odors. A related condition is anosmia, in which no odors can be detected. Some of the causes of olfaction problems are allergies, nasal polyps, viral infections and head trauma. … Lifelong hyposmia could be caused by Kallmann syndrome.

68
Q

Case

A
69
Q

Complete the table

A
70
Q

Case

A
71
Q

Complete the table

A

Human Reproduction (40 decks)

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