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Reproductive And Development > 2-24-16-Disorders Of Sexual Development DSA (Cole) > Flashcards

2-24-16-Disorders Of Sexual Development DSA (Cole) Flashcards

1
Q

Before week __, sex is indistinguishable

A

6

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2
Q

In males, testis organization begins in weeks ___

External genitalia of both sexes are identical up until about week ___

Female development begins at week ___

A

6 and 7

8

12

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3
Q

___ stimulates the growth of the genital tubercle and induces fusion of urethral folds and labioscrotal swellings

___ inhibits the growth of vesicovaginal septum preventing the development of the vagina

A

DHT

DHT

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4
Q

Male external genitalia is entirely formed at the end of __ weeks

A

12

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5
Q

___ gene is on the Y chromosome, has 1 exon, is GC-rich in the 5’ region, has 2 zinc-finger rich recognition sites for Sp1

A

SRY

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6
Q

___ pairs and recombines with the X-chromosome and the SRY is near but not directly in this region.

A

Pseudo Autosomal Region (PAR)

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7
Q

___ is required for SRY expression; gonads and adrenal development also require this

A

SF1–> required for: sexual determination and differentiation, steroidogenesis, lipid metabolism

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8
Q

WT1 and SF1 expression is required for ___

SRY expression in sertolie cells upregulates ___ expression

A

SRY

SOX9 (SRY-related HMG-Box 9)

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9
Q

SOX9 mutation can result in ___

A

Campomelic dysplasia

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10
Q

___ is characterized by bowing of long bones, shortening of long bones, skeletal dysplasia such as hypoplastic scapulae, narrowed iliac bones, and chest hypoplasia (respiratory distress)

A

Campomelia dysplasia

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11
Q

Without ___, mullerian ducts do not degenerate and ovary development occurs in 46 XY campomelia dysplasia.

A

SOX9

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12
Q

___ diffuses from sertoli cells to paired mullerian duct primordia and attaches to receptors that are serine-threonine protein kinase single transmembrane domains and leads to apoptosis of mullerian duct primordia

A

AMH

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13
Q

___ is normally down-regulated in developing testes but not in the ovary. A mutation of deletion of ___ results in congenital adrenal hypoplasia and hypogonadotropic hypogonadism

A

DAX1

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14
Q

At the termini of Y chromosomes are ___. The few genes within these regions are the same on the X and Y chromosomes and are inherited in an autosomal manner

A

Pseudoautosomal region (PAR)

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15
Q

___ expression is required not only for proper sex differentiation but also for chondrogenesis.

A

SOX9

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16
Q

Mutations in __ gene result in severe dwarfism syndrome, camptomelic dysplasia and also XY female sex reversal (46 XY complete gonadal dysgenesis)

A

SOX9

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17
Q

An important target for SOX9 in sex determination is ___

A

AMH

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18
Q

Development of both male and female gonads and adrenal glands requires the expression of ___ gene. This gene also regulates the steroid hydroxylase enzyme system

A

SF1

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19
Q

Failure of __ gene expression to occur in adrenals causes a cascade of events in which insufficient corticosterone produces significant consequences

A

SF

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20
Q

SF1 acts synergistically with __ to up-regulate AMH which diffuses from sertoli cells to the paired mullerian duct primordia and effects apoptosis through ser/thr protein kinase surface receptors

A

WT1

21
Q

Sex reversal can occur from a duplication of a region on the X chromosome called ___. It is regulated by SF1 through feedback inhibition

A

DSS (Dosage-sensitive sex reversal)

22
Q

DSS contains a gene designated as ___ for DSS-AHC critical region on the X chromosome. Prior to testis determination, ___ is expressed in both gonads. As SRY expression increases from the Y chromosome, ___ expression declines in testes. In the ovary, where SRY expression is not normal or expect in 46 XX females, ___ expression is present and blocks the synergistic activity of SF1 and WT1 to upregulate AMH expression

A

DAX1

DAX1

DAX1

DAX1

23
Q

When Sry expression increase, DAX1 expression is ___

A

Repressed–> DAX1 expression does not occur in testes, where SRY expression is high, and ovary formation is prevented

24
Q

If DAX1 gene is duplicated on the X chromosome in the male, the amount of SRY is insufficient to antagonize the increased DAX1 activity. DAX1 will remain active and continues to prevent ___ formation and will result in ___

A

Testis

46 XY female (46 XY complete gonadal dysgenesis

25
Q

The x-linked form of adrenal hypoplasia congenita (AHC) is caused by loss of function mutations in ___

A

DAX1–> results in hypogonadotropic hypogonadism

26
Q

Week ___ -Primordial germ cells–> recognizable in the yolk sac wall; mitosis; migrate through dorsal mesentery of the hindgut

Week ___ -Medioventral border of the urogenital ridge thickens to become the gonadal ridge

Week ___ -Primordial germ cells incorporated into the primary sex cords

A

4

5

6

27
Q

___ is an abnormality of anterior urethral development in which the urethral opening is ectopically located on the ventrum of the penis proximal to the tip of the glans penis. The opening may be seen as proximal as the scrotum or perineum. The penis is more likely to have associated ventral shortening and curvature, called chordee, with more proximal urethral defects

A

Hypospadias

28
Q

This DSD is characterized by both ovarian and testicular tissue in one or both gonads. The internal and external differentiation is variable, often ambiguous, cryptorchidism and hypospadias is common.

A

Ovotesticular disorder –> ovotestis is the most common gonad found

29
Q

___ is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of 7-dehydrocholesterol reductase. It is characterized by pre and post-natal growth retardation, microcephaly, moderate to severe mental retardation, and may include malformations such as cleft palata, cardiac defects, underdeveloped external genitalia in males, and 2-3 syndactyly of the toes

A

Smith-Lemli-Opitz syndrome

30
Q

A deficiency in this enzyme can lead to:

  • No sex hormones or cortisol
  • Elevated production of mineralocorticoids (cause HTN)
  • Phenotypically female but unable to mature
A

17-alpha-hydroxylase

31
Q

A deficiency in this enzyme causes the following:

  • No testosterone
  • Elevated estrogens from androstenedione
  • Increased FSH and LH
  • Phenotypically female
  • Virilization at puberty
A

17-beta-HSD

32
Q

A deficiency in this enzyme causes the following:

  • Female genitalia
  • Partial virilization at puberty
  • Elevated testosterone:DHT ratio
A

5-alpha-reductase

33
Q

A deficiency in this enzyme can lead to the following:

  • No glucocorticoids, mineralocorticoids, androgens, and estrogens
  • Salt excretion in urine
  • Early death
A

3-beta-HSD

34
Q

___ is caused by maternal intake of endocrine disruptors such as BPA, phthalates, parabens, PBDE, Dioxin, pesticides and heavy metals

A

Congenital Non-genetic 46,XY DSD

35
Q

A “true hermaphrodite” is known as ___

A “pseudohermaphrodite” is known as ____

A

Ovotesticular DSD

Pseudohermaphrodite –> Male 46, XY DSD or Female 46, XX DSD

36
Q

This enzyme deficiency is the most frequent cause of male pseudohermaphroditism (Male 46,XY DSD) due to testosterone deficiency

A

17-beta-HSD

At puberty-Virilization: deepening voice, clitoral enlargement, hirsutism, male muscularity, breast development

37
Q

A defect in the conversion of testosterone to DHT is due do a deficient __ enzyme

A

5-alpha-reductase

38
Q

This 5-alpha-reductase isozyme is expressed before and after birth in the prostate, wolffian derivatives, scrotum and liver:___

This 5-alpha-reductase isozyme is expressed before and after birth in the non-genital tissues:___

A

Type 2

Type 1

39
Q

This enzyme is deficient is Female 46, XX DSD

A

Aromatase (cytochrom P450-aromatase)

40
Q

Excess ___ hormone masculinizes external genitalia during female development, prematurely virilize external genitalia of affected males, virilize a woman during pregnancy of affected child

A

Androgen

41
Q

Describe the characterization of virilization in a pregnant female:

A
  • Acne
  • Low pitch voice
  • Clitoral hypertrophy

-Child-ambiguous genitalia

42
Q

Describe the phenotypic characteristics of female development and elevated androgens before 12 weeks and after 12 weeks:

A

Before 12 weeks–> labioscrotal fusion and clitoral enlargement

After 12 weeks –> clitoral enlargement

43
Q

___ is the most common cause of hypogonadism, 1 in 500 male births, is 47 XXY but can have variants such as XXXY, XXXXY, XXYY, and XXY/mosaics. It is usually a result from maternal nondisjunction

A

Klinefelter syndrome

44
Q

Describe testosterone and serum LH and FSH levels in an individual with klinefelter syndrome:

A

Leydig cells are functionally abnormal–>
Decreased testosterone production
Serum LH increased –> cause leydig cells to secrete estradiol
FSH also increased

45
Q

Autosome monosomies are ___

Y chromosome monosomy (45 Y) is ___

X chromosome monosomy (45 X) is ___

A

Lethal

Lethal

Viable

46
Q

Individuals with ___ are 45, X, have gonadal dysgenesis, short stature, webbed neck, coarctation of aorta, high-arched palate, shield-like chest with widely spaced nipples, occurs in 1/2000 live female births, and they can have normal intelligence

A

Turner syndrome–> can also have short metatarsals, renal abnormalities, cubitus valgus, edema of hands and feet , micrognathia

47
Q

___ leads to “web” neck

A

Cystic hygroma

48
Q

___ is “male Turner” syndrome, autosomal dominant, mutations in PTPN11 gene (~50% of cases). Characteristics include delayed puberty, down-slanting or wide-set eyes, hearing loss, low set or abnormally shaped ears, pulmonary stenosis, sagging eyelids (ptosis), short stature, unusual chest shape, webbed and short-appearing neck

A

Noonan syndrome

49
Q

A mutation in __ gene leads to the more severe form of Noonan syndrome

A mutation in __ gene leads to heart problems (hypertrophic cardiomyopathy) in Noonan syndrome

A

KRAS

RAF1

Reproductive And Development (16 decks)

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