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12. UroPed (1583) > 2 - pediatric genital abnormalities > Flashcards

2 - pediatric genital abnormalities Flashcards

1
Q

source of problem if appropriate gonadotropins but low testosterone in neonatal period

A

gonadal

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2
Q

source of problem if low gonadotropinsat expected surge in neonatal period

A

central

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3
Q

most common cause of 46 xx DSD

A

CAH

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4
Q

non-CAH cause of 46xx DSD

A

maternal virilizing condiitons

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5
Q

2 examples of maternal virilizing conditions causing 46xx DSD

A

p450 aromatase deficiency with no T to E, or elevated maternal androgens

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6
Q

46 xx dsd - CAH effect on males and females

A

males already virilized, females virilize

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7
Q

46 xx dsd - CAH missing hormone

A

cortisol insufficiency +/- aldosterone- shunt of steroid toward sex steroi

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8
Q

enzyme deficiencies for 3 types of CAH involved in virilization

A

21-hydroxylase
11b- hydroxylase
3-b hydroxysteroid dehydrogenase

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9
Q

physical location of these enzyme deficiencies

A

adrenal cortex

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10
Q

most common enzyme CAH

A

21-oh - 90%

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11
Q

CAH inheritance

A

autosomal recessive

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12
Q

what precourser is elevated in 21-OH deficiency - 2

A

elev 17-oh progesterone and androstenedione

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13
Q

2 genes responsible for 21-OH deficiency

A

CYP21A and B

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14
Q

location of CYP21A/B genes for 21-OH deficiency

A

chr 6

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15
Q

symptoms of 21-OH deficiency

A

classic - simple virilization, salt wasting 75%

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16
Q

medication for 21-OH deficiency

A

fludrocortisone

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17
Q

2nd most comm CAH

A

11 b-hydroxylase

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18
Q

symptoms of 11b-OH deficincy - 2

A

virilization, HTN

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19
Q

what precourser is elevated in 11b-OH deficiency

A

deoxy corticosterone (DOC) and elevated 17-oh progesterone

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20
Q

steroids for 11-b OH deficiency?

A

no fludrocortisone

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21
Q

symptoms of 3b-hydroxysteroid dehydrogenase deficiency

A

salt wasting, male ambiguous gniralia

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22
Q

what is elevated in 3b-hydroxysteroid dehydrogenase deficiency

A

pregnenalone (DHEA)

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23
Q

workup for suspected CAH

A

karyotype, pelvic us, genitogram, hormone assays

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24
Q

who gets prenatal treatment for possible CAH

A

when family hx CAH

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25
Q

what is prenatal tx for CAH

A

dexamethasone given by 9th wk to prevent virilization

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26
Q

caveat with prenatal tx for CAH

A

7/8 tx’d unnecessarily because inheritance is AR

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27
Q

implication of nonclassic CAH

A

infertility may be only implication

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28
Q

treatment of nonclassic CAH

A

dexamethasone

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29
Q

what does STAR stand for (star mutation)

A

steroidogenic acute regulatory protein

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30
Q

what is STAR mutation

A

proximal steroid synthesis disorder

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31
Q

presentation of STAR mutation

A

severe glucocorticoid and mineralocorticoid production deficiency at 1 mo, severe secondary hyperpigmentation

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32
Q

what is implication of STAR mutation

A

female phenotype in XX/XY, no androgen production or potential

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33
Q

what does TART stand for

A

testicular adrenal rest tumors

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34
Q

who gets TART

A

poorly controlled 46 XY CAH w increased ACTH

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35
Q

puberty and nodules in TART

A

puberty contributes to increased size of lesions due to LH receptors on nodules

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36
Q

where are TART nodules found

A

nodular growth in rete testis

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37
Q

TART histology

A

similar to leydig cells but no reinke crystals

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38
Q

TART outcome

A

often result in primary gonadal failure

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39
Q

how does TART result in primary gonadal failure

A

obstructive azoospermia, peritubular fibrosis

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40
Q

how to treat TART

A

maximize compliance w steroid therapy. Remove only in pain

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41
Q

what is swyler syndrome

A

pure gonadal dysgenesis - 46XY with no testosterone or MIS

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42
Q

swyler syndrome phenotype

A

normal F internal and external genitalia (but 46 xy), normal height, primary amenorrhea, delayed puberty

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43
Q

swyler and SRY mutation

A

found in 20%

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44
Q

initial mgmt of swyler syndrome

A

gonadectomy due to risk of malignancy

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45
Q

partial gonadal dysgenesis definition

A

mix of mullerian and wolfian structures

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46
Q

partial gonadal dysgenesis phenotype

A

depends on amount of testosterone child exposed to

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47
Q

partial gonadal dysgenesis- gonads

A

gonads - poorly differentiated testicular tubules and ovarian like stroma

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48
Q

genotype for mixed gonadal dysgenesis

A

45 XO, 46 XY

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49
Q

significance of mixed gonadal dysgenisis found on amniocentesis

A

95% boys have nl phenotype –> expression of mosiacism varies

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50
Q

phenotype for mixed gonadal dysgenisis

A

wide range - turner stigmata - female external and internal genitalia to nl male w subfertility

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51
Q

turner syndrome genotype

A

45 XO

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52
Q

turner syndrome - phenotype

A

Female but no pubic hair, breast, or menses. and short stature

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53
Q

turner gonads

A

streak

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54
Q

turner mosaic genotype

A

45XO, 46 XX

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55
Q

turner mosiac presentation - 2

A

pubertal development uncommon, secondary amenorrhea (similar to regular turners)

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56
Q

turner stigmata - 7

A 
short stature
 coarctation of aorta
 horseshoe kidney
 broad chest
 webbed neck, low hairline, low ears
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57
Q

what is 46 XY DSD

A

UNDERvirilization +/- DSD

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58
Q

potential causes of 46 xy DSD - 3

A

androgen synthesis, conversion, insensitivity

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59
Q

androgen syn defect outcome

A

micropenis +/- hypospadius, mullerian tissue absent b/c testicular tissue present

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60
Q

structure of penis in micropenis

A

urethra/prepuce small but formed

61
Q

main cause of micropenis

A

failed stimulation after 14 wks due to primary hypogonadism, hypogonadotrophic hypogonadism

62
Q

micropenis tx

A

early testosterone tx

63
Q

inheritance of androgen conversion defect

A

AR

64
Q

phenotype of androgen conversion defect

A

pseudovaginal perineoscrotal hypospadius -no tubularization of urethra or elongation of phallus. no mullerian structures present b/c nl sertoli function and nl T

65
Q

what enzyme is involved in androgen conversion defect

A

5alphareductase-type 2 defic

66
Q

enzyme missing in androgen conversion defect

A

low DHT

67
Q

outcome of androgen converson defect

A

masculinize with puberty

68
Q

androgen insensitivity - pathophys

A

wide number of mutations - some bind DHT but not T

69
Q

androgen insensitivity inheritance

A

x-linked recessive

70
Q

complete androgen insensitivity - phenotype

A

internal female genital tract abscent but distal vag and hymen present - from UG sinus.
rudimentary wolfian structures present because no response to T. often hernia

71
Q

how does complete androgen insensitivity present

A

primary amenorrhea

72
Q

mgmt of complete androgen insensitivity

A

do karyotype

73
Q

what is ovotesticular DSD

A

both ovarian and teticular tissue on gonadal biopsy

74
Q

ovotesticular DSD - karyotype

A

most 46 XX some 46 XY, some mosaic

75
Q

ovotesticular DSD - gonad phenotype

A

unilat or bilat ovary, testis, or ovotstis.

76
Q

ovotesticular DSD mgmt

A

removal of discordant genital organs with assigned sex. ex - if ovarian protion remains in male, may get breast development.

77
Q

what is ovotesticular DSD

A

true hermaphrodite

78
Q

what is MRKH

A

mullerian agenesis

79
Q

MRKH - whats missing - 2

A

absence of uterus, upper vagina, renal agenesis/anomaly common

80
Q

MRKH whats present

A

distal 1/3 vag- from ug sinus, ovaries present and have nl pubertal development

81
Q

MRKH - how do they present

A

primary amenorrhea

82
Q

tumors in DSD - 3

A

GCT, gonadoblastoma, itgcn

83
Q

what tumor presents in turner syndroe and why

A

gonadoblastoma b/c have streak gonad

84
Q

tumors in turner synd - gonad mgmt

A

Gonadectomy in childhood if 45 XO/46XY mosaic

85
Q

mixed gonadal dysgenisis - gonadal mgmt - streak vs descended gonad

A

in streak gonad, early gonadectomy due to presence of Y

if descended nl testis, do bx @ 10 yo to r/o itgcn and consider XRT

86
Q

relative risk of testicular tumor - H/I/L

A 
hi - XY gonadal dysgenesis
 int - XO/XY
 low - CAIS - 5-10% postpubertal
 ovotesticular DSD - cryptorchid risk
 other XY DSD - no inc risk other than cryptorchid
87
Q

descent of urorectal septum - destination and function

A

destination of septum is mature colacal membrane and splits cloaca into ug sinus membrane and anal menbrane

88
Q

when is urorectal septum descended

A

complete by 7 wks

89
Q

urorectal septum descent is temporally related to what?

A

mullerian fusion

90
Q

classic vs cloacal exstrophy and relation to urorectal septum

A

classic - after complete descent

cloacal - before complete descent

91
Q

exstrophy epispadius complex - 5

A 
exstrophic bladder (halves)
 abd wal efect
 pubic diastasis
 penile/clitoral malformations
 vaginal duplication
92
Q

persistent cloaca

A

extreme anorectal malformation in females
highly variable anatomy
rectal atresia
single vs duplicate vag /atresia

93
Q

classic bladder exstrophy assd w/?

A

nothing

94
Q

cloacal exstrophy assd w/?

A 
midline defects (omphalocele, cardiac, spinal dysraphism (905)
 GI - duplications
 renal abn
 cryptorchidism
 lower ext malformations
95
Q

persistent exstrophy assd w/?

A

obstructive uropathy (w/ hydrocolpos)
cardiac
renal abn
sacral abd/ tethered cord

96
Q

what % teticles are not descended by 1 yr

A

1%

97
Q

when do most testicles descend by

A

6 mo

98
Q

what initiates masculinization in fetus

A

SRY gene

99
Q

primary amenorrhea DDX

A

MRKH, complete androgen insensitivity

100
Q

at how many wks are genital organs first seen

A

5 wks

101
Q

what genital organs are seen at 5 wks - 3

A

indifferent gonad, mesonephric duct, and mullerian ducts

102
Q

gene determining sexual differentiation

A

sex determining region y (SRY)

103
Q

what is the gene product of SRY

A

high mobility group box sequence

104
Q

function of high mobility group box

A

DNA binding motief that kinks DNA altering gene expression and leading to formatin of testis and male phenotype.

105
Q

what if SRY is absent in XY

A

phenotypic females

106
Q

how does rete testis develop

A

once induced to form testis, gonad develops clustered cords of germ cells that converge to form rete testis

107
Q

source of germ cells for spermatogenisist?

A

cells converging to form rete testis serve as renewing source of germ cells for spermatogenisis

108
Q

testosterone produciton in first 12 wks

A

testosterone made by differentiating leydig cells at 8 wks, then declines by 12 wks

109
Q

testosterone and mesonephric duct

A

testosterone stimulates mesonephric duct to form ureter in both sexes

110
Q

mesonephric duct develops into what 4 structures

A

vas deferens, epididumis, ejaculatory duct, and SV

111
Q

WT1 and early secual development

A

helps genital ridge become bipotential gonad

112
Q

2 genes involved in differentiation of indifferent gonad from urogenital ridge

A

WT1 (may explain association with genital abn in denys drach and WAGR), SF1 (steroidogenic factor 1)

113
Q

2 genes involved in formation of testis

A

SRY and SOX 9

114
Q

2 genes involved in formation of ovary

A

Wnt4, and DAX1 (doseage sensitive sex reversal region of x chromosome)

115
Q

3 structures that come from mullerian duct

A

fallopian tubes, uterus, and upper vagina

116
Q

2 vestigial structures of mullerian duct in male

A

appendix testis and prostatic utricle

117
Q

persistent mullerian duct syndrome inheritance

A

x linked or autosomal dominant

118
Q

persistent mullerian duct syndrome -what is it?

A

male with nl phenotype but also fully developed uterus and fallopian tube due to incomplete involution of mullerian derivatives

119
Q

what is persistent mullerian duct syndrome

A

mullerian inhibitory substance not secreted

120
Q

what is hernia uteri unguinalis

A

hernia containing uterus and fallopian tubes in persistent MDS

121
Q

what secretes insulin-like 3

A

leydig cells

122
Q

what does insulin like 3 do?

A

promotes transabdominal testis migration that begins testis descent into scrotum

123
Q

how does testis descent begin

A

result of differential growth of gubernaculum tesis

124
Q

how long after birth can it take for descent to occur

A

upto 1 yr

125
Q

role of DHT

A

masculinizes genital ridge to form external genitalia, including penis, scrotum, and prostate

126
Q

MIS deficiency - what is it

A

problem with production of MIS by sertoli cells or its action on target receptors

127
Q

MIS deficiency AKA

A

heria uteri inguinale

128
Q

MIS defciency presentation

A

encountering fallopian tubes and uterus during hernia surgery or exploration for undescended testis

129
Q

MIS deficiency undescended testicle problem

A

both testicles can be on one side with vas running within the wall of the uterus

130
Q

mis deficiency found at orchiopexy mgmt

A

proceed with orchiopexy, split uterus sagitally if the vas is tethered

131
Q

hypospadius - when doesandrogen stimulation play its role

A

9-12 wks of delopment

132
Q

androgen effect on urethral development

A

genital tubercle to elongate and UG folds to migrate toward midline and fuse, enclosing urethral groove

133
Q

root cause of hypospadius

A

arrested penile development

134
Q

associated gu abnormalities with hypospadius

A

none

135
Q

when to do hypospadius surgery

A

> 3 mo and < 18 mo (genital awareness)

136
Q

when does normal testicular descent happen

A

28th wk

137
Q

timing of correction for cryptorchidism

A

wait until atleast 4 months - most undescended will come down by then with neonatal T surge. best to do by 1 yr old to maximize fertility

138
Q

why do orchidopexy by 1 yr ideally

A

fertility - germ cell counts decrease after 1 yo. initially normal

139
Q

treatment for testicle found in groin on us

A

surg not indicated for us findings for undescended testis.

140
Q

tests to order if bilateral nonpalpable testis

A

FSH, LH, and testosterone

141
Q

what lab result indicates anorchia

A

FSH > 3x nl

142
Q

if FSH/LH < 3x nl and bilateral udt - what next

A

give HCG stim to detect any rise in testosterone

143
Q

bilateral nonpalpable testis and any phallic development - significance

A

considered female with CAH regardless of phallic development

144
Q

hematologic problem mimmicing torsion

A

henoch-schonlein purpura

145
Q

small or large communicating hydrocele in infants

A

usually resolve within 1-2 yrs of life

146
Q

varicocele management in adolescents - 3 mgmt steps

A
  1. initial observation, catchup growth happens often, 2. varicocele ligation if ipsilateral volume loss > 20%, 3. abnormal semen analysis in tanner 5 teenager
147
Q

bilateral testicles found at hernia repair in female - meediate mgmt?

A

finish hernia repair. che has complete androgen insensitivity

148
Q

mgmt of testicles in complete androgen insensitiviy

A

will eventually need to be removed, can remain during childhood

12. UroPed (1583) (13 decks)

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