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2nd Repro > Congenital Anomalies > Flashcards

Congenital Anomalies Flashcards

1
Q

FActors to consider in gender assignment DSD

A

Most children with DSD will form a normal male or female gender identity

Natural history of the condition: Most likely future gender identification

Endocrine function, Surgical reconstructibility, Likelihood of future sexual function, Potential for fertility, Effect of Testosterone imprinting on brain, Parents perceptions and desire

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2
Q
  • Small phallus
  • Hypospadias
  • Cryptorchidism
  • Bifid scrotum
  • Absence of scrotal rugation
A

Features of UNDERvirilized males

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3
Q
  • Clitoromegaly
  • Common Urogenital Sinus
  • Fused labioscrotal folds
  • Rugated labioscrotal folds
A

Features of Virilized female

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4
Q

46 XX DSD

  • Excessive fetal androgen production leading to: Congenital adrenal hyperplasia:
  • is the MOST COMMON CAUSE OF 46 XX DSD
A

21-hydroxylase deficiency

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5
Q

Other then 21 hydroxylase deficiency what are some causes of 46 XX DSD?

A
  • Excessive maternal androgens (virilizing tumors)
  • Maternal Drugs
  • Associated with other congenital anomalies
  • Patients with Ovotesticular DSD are usually 46XX
  • XX males (presence of SRY sequences on X-chromosom
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6
Q
  • Defect in testicular differentiation: Genetic defects: SRY, X-loci, autosomes
  • Defect in Sertoli Cell function: inadequate MIS or persistence of Mullerian ducts
  • Defect in Leydig Cell function: _testosterone biosynthetic defec_t • LH/HCG response defect

ALL seen in

A

46 XY

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7
Q

50% of 46XY cases of infants with ambigious genitalia are

A

idiopathic

some associated with congenital abnomalities

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8
Q

46 XY DSD

Defect in function of androgen in target tissue:

  1. Defect in DHT production results in:
  2. Defect in androgen receptor action:
A
  1. DHT required for complete virilization before birth but not at puberty
  2. androgen insensitivty syndromes
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9
Q

46 XY DSD from congenital adnreal hyperplasia thus inhibiting testicular and adrenal steridogenesis:

causes

A
  • 3 beta-Hydroxysteroid Dehydrogenase deficiency
  • 17-Hydroxylase/17,20 Lyase combined deficiency
  • Side Chain Cleavage deficiency
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10
Q

• Both ovarian and testicular tissue w/ normal

responsiveness to hormones

  • Karyotype: 46XX (70%), 46XY, or 46XX/XY(20%)
  • Phenotype is a spectrum from feminine to masculine
A

Ovotesticular DSD

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11
Q

Phenotype is a spectrum from feminine to masculine in Ovotesticular DSD

A
  • Gonads: bilateral ovotestes, or testis on one side and ovary on other. In one gonad,each element may be well-defined or admixture of testicular and ovarian elements
  • Ext genitalia: variable spectrum from feminine to masculine
  • Int genitalia: parallels the nature of the ipsilateral gonad
  • Hormone profile: testosterone levels reflect amount of testicular tissue
  • Variable MIS: depends on testicular elements.
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12
Q

fertility in ovotesticular DSD

A

uncommon

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13
Q

Tx for Ovotesticular DSD

A

Needs:
• Laparoscopy with gonad biopsy as infant
• Surgical reconstruction to match gender assignment.
• Excision of organs inconsistent with gender assignment

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14
Q

When do you consider DSD

A

BILATERAL NONPALPABLE GONADS

SEVERE HYPOSPADIAS ESP. WITH NONPALPABLE GONADS

CLITOROMEGALY (OR MICROPHALLUS?)

POSTERIOR FUSION OF VAGINAL OPENING (OR UNDERVIRILIZED SCROTUM?)

WHENEVER GENITALIA DO NOT LOOK COMPLETELY NORMAL

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15
Q

Androgen Insensitivity syndrome:

what is the genotype?

What are most common presentations?

A

Xlinked recessive with 46 XY

CAIS = complete insensitivity

Partial = variable spectrm

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16
Q

You have a female adolescent with primary amenorrhea and breast but NO pubic hair

OR

female child with testes discovered in inguinal hernia

A
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17
Q

THis presents as spectrum from ambigious female genetalia to normal male with infertility

its an x linked recessive disorder

A

Androgen Insensitivity Syndrome

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18
Q

Patient with Testes, androgen present, Wolfiann duct regress, MIS made thus no Mullerian ducts.

What do we expect for external genetalia?

what is teh karyotype

A

this is CAIS: 46 XY

have external female genetalia; get femenizing puberty but no menses bc no ovariain system

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19
Q

IN CAIS what do we see in adult in regard to 2nd sex characteristics

A

46 XY with complete androgen insufficiency

see breast devo (bs excess androgen–> estrogen)

No pubic hair or acne bc receptors don’t respond to androgens

will have high levels of testosterone

20
Q

What are clues to Partial androgen insensitivity?

A

often present as male with fertility issues

micropenis and gynecomastia

21
Q

PAIS is complex; what do we see with:

gonads:

ext genitalia:

internal genetalia:

A
  • Karyotype: 46XY
  • Gonads: testes vary in location. Abdominal-inguinal-scrotal
  • Ext genitalia: variable spectrum of severely undervirilized male • Int genitalia: lack all mullerian duct structures
22
Q

Hormone profile in PAIS individual

A
  • Hormone profile: Normal-High testosterone. Normal MIS.
  • Variable response to exogenous testosterone
23
Q

Needs for children with PAIS

A

can be male or female: most satisfied with gender identity but unsatisfied by apperance or functionality of genetalia

Complex surgical reconstruction depending on gender identity often delayed until puberty when patient can express input

Psychological support

24
Q

Karyotype variable: 46XX (mostly), 46XY or 46XY/46XX

• Both ovarian and testicular tissue present

May be bilateral ovotestes, or testis on one side and ovary on other

A

Ovotesticular DSD

25
Q
  • External genitalia of variable appearance: spectrum from masculine to feminine in appearance
  • Internal anatomy and endocrine function parallels the nature of the ipsilateral gonad
  • Fertility is uncommon
  • Sex of rearing can be complex decision
A

Ovotesticular DSD : 46XX (mostly), 46XY or 46XY/46XX

26
Q

There are two enzymes key in taking androstendione to DHT:

Androstendione–> enZ?

Testosterone –> enZ?

DHT

A

androstendione –> testosterone: **17-ketosteroid reductase: **

Testosterone –> DHT: 5-alpha reductase

27
Q

Defects to what 2 enZ would lead to androgen biosynthetic defects?

A

17-ketosteroid reductase

5-alpha-reductase

28
Q

Complete testosterone biosynthetic defect

A

Testes devo, no androgens (enZ defient), Wolff ducts regress, MIS made thus Mullerian regress, external genitals= female, feminizing puberty if given estrogen

29
Q

Androgen levels in complete testosterone biosynthetic defec

What happens to wolfiann ducts

A

NO androgens thus wolfiann ducts regress

30
Q

What happens to mullerian ducts in complete testosterone biosynthetic defect (karyo is XY)

A

MIS is made thus mullerian ducts regress

31
Q

What do we see for external genetalia and puberty in complete biosynthetic testosterone defect (karyotype = 46XY) ?

A

External = female genatalia

feminizing puberty if given estrogen therapy

32
Q

46 XY karyotype, autosomal recessive

Mutation in enZ needed to converts Testosterone (T) to Dihydrotestosterone (DHT)

A

5-alpha Reductase Deficiency

33
Q

____is critical for virilization prior to birth, but ___is critical at

puberty

A

DHT

TEstosterone ****Experience surge of T at puberty, these males undergo dramatic virilization even in absence of DHT in 5 alpha reductase deficiency

34
Q

5alpha reductasae defieicney: 46 XY autoR

Testes:

Androgens:

Wolffian ducts:

A

testes devo

testosterone but NO DHT produced

wolf ducts develope (supported by testosterone)

35
Q

5alpha reductasae defieicney: 46 XY autoR

MIS made?

Mullerian Duct fate

External genitalia

A

MIS made thus mullerian ducts regress

external genitals are AMBIGIOUS

OPTIONS: testes left intact see partial masculinizing puberty

or feminizing puberty if testes removed and estrogen therapy

36
Q

Causes of 46 XX DSD Congenital adrenal hyperplasia

A

21-OH deficinency

11-OH def or 3B-HSD

37
Q

Causes of 46 XY DSD congenital adrenal hyperpasia

A

46 XY DSD

SCC def (CYP11A)

17-OH def (CYP17)

3-HSDDef

38
Q
  • Most common form of CAH and of 46,XX DSD
  • Mild to severe virilization of female fetus due to adrenal

androgen excess

A

CAH due to 21-hydroxylase deficiency

39
Q

How can we test for CAH d/t 21-hydroxylase deficiency in newborns?

A

Tested by measuring level of 17-hydroxyprogesterone on state newborn screens

• Late onset form presents in adolescent or young adult females; no congenital virilization

40
Q

Treatment for CAH due to 21-hydroxylase deficiency

A

cortisol replacement to suppress ACTH and reduce adrenal androgens

41
Q

CAH due to 21-hydroxylase deficiency with 46 XX:

Ovaries:

androgen production:

Wolfian duct

Mullerian duct:

A

CAH due to 21-hydroxylase deficiency

ovaries devo, no testicular androgens but excessive adrenal androgens

Wolfiann regress, NO MIS thus Mullerian ducts devo

42
Q

CAH due to 21-hydroxylase deficiency : external genitatila and puberty

A

ambigous external genitalia and feminizing puberty if treated with cortisol

43
Q
  • 12 day old “male with perineal hypospadius and cryptorchidism” • newborn screen 17-OH progesterone was normal
  • urology consultant suggested endocrine evaluation

• high dose steroids for respiratory problem day of life 1-12

  • day 12: 17-OH progesterone 169 ng/dl (normal)
  • day 14: 17-OH progesterone 37,400 ng/dl
A

Moderate virilization

high dose steroids messed up test!; way elevated

44
Q
  • 2 week old infant
  • positive newborn CAH screen, abnormal genitalia missed

• serum 17-OH progesterone = 30,690 ng/dl (<200)

A

Mild virilization

45
Q

3 week old infant
• discharged after circumcision as bilateral cryptorchid

male with follow-up appointment in urology clinic

  • presented near death with salt losing crisis
  • karyotype 46 XX
A

Complete Virilization

46
Q

What is the most accurate description of internal and external genitalia in 46XX DSD 21-hydroxylase deficiency CAH

A

Wolfiann duct absent, mullerian duct present, external genitalia virilized

47
Q

• Making an accurate diagnosis is critical for what reasons

A
  • Prediction of response to treatment (esp. androgen response)
  • Predication of fertility potential
  • Estimation of androgen effect on fetal brai

2nd Repro (16 decks)

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