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05 Endo > Ambiguous Genitalia and Newborn Screening > Flashcards

Ambiguous Genitalia and Newborn Screening Flashcards

1
Q

3 related sequential processes in sexual development

A

establishment of chromosomal sex: genetic control
determination of gonadal sex: hormonal control
development of sexual phenotype: hormonal control

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2
Q

newborns requiring investigation

A
  • ambiguous genitalia
  • severe hypospadias w or w/o undescended testes, micropenis, bifid scrotum, shawl scrotum
  • male infant with non-palpable testes
  • female infant with inguinal hernia
  • isolated clitoromegaly and/or labial fusion
  • genital anomalies associated with sydromes
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3
Q

causes of masculinized female due to maternal androgens

A
  • from synthetic progestins with androgenic activities (danazol for endo)
  • ovarian and adrenal tumors (arrhenoblastoma, hilar cell tumors, kurkenberg tumor)
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4
Q

causes of masculinized female due to fetal androgens

A

placental aromatase deficiency

congenital adrenal hyperplasia

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5
Q

pathophysiology of placental aromatase deficiency

A

fetal adrenals produce large amounts of 17-ohp and 16-hdh enzymes which go to the placenta to be converted. deficiency of the aromatase enzyme will let fetal androgens accumulate and return to fetal circulation = masculinization

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6
Q

most common cause of female newborns with ambiguous genitalia

A

congenital adrenal hyperplasia

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7
Q

hormone pathology in cah

A

21-hydroxylase deficiency*
elevated 17-ohp
elevated precursors
low aldosterone and cortisol

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8
Q

clinical symptoms and labs in cah

A 
androgen excess (virilization in f, precocious puberty in m)
glucocorticoid and mineralocorticoid deficiency = hypogly, hyponat, hyperkal
46xx karyotype
non-palpable gonads in inguinal area
uts shows ovaries and uterus
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9
Q

causes of undermasculinized male

A

abnormal testes determination (partial xy, mixed xo/xy gonadal dysgenesis)
androgen biosynthetic defects
resistance to androgen

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10
Q

genetic abnormalities in 46xy (partial)

A

genes for formation of early urogenital ridge or bipotential gonad
gene mutation needed to differentiate the bipotential gonads into testes

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11
Q

pathophysiology in 46 xy (partial)

A

partial abnormality of both leydig (testosterone production) and sertoli cells (anti-mullerian hormone) = partial masculinization of external genitalia + mullerian duct

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12
Q

anatomical abnormalities in 45xo/45xy (mixed)

A 
poorly differentiated testicular gonad on one side of the body (usually accompanied by wolffian ducts)
gonadal streak (undifferentiated)
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13
Q

patients with mixed gonadal dysgenesis have poor ___ production related to their poorly developed testicular gonad

A

poor testosterone production = ambiguous genitalia

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14
Q

proteins needed for differentiation of the gonadal ridge

A

wilms tumor 1 protein

steroidogenic factor 1 protein

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15
Q

features of deyns drash syndrome

A

wt1 mutation on c11
ambiguous genitalia in 46xy infants
proteinuria
wilms tumor

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16
Q

features of xy gonadal agenesis syndrome

A 
ambiguous external genitalia but more female
hypoplasia of labia
labioscrotal fusion
small clitoris like phallus
a perineal urethral opening
no uterus or gonadal tissue
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17
Q

regression of testes after 20 wks aog in xy gonadal agenesis syndrome results to ___

A

anorchia (no testes)

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18
Q

___ enzyme converts testosterone to dht

A

5a reductase

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19
Q

lack of 5a reductase leads to ___

A

inability to convert t to dht in androgen target cell = abnormal sex differentiation

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20
Q

features of 5a reductase deficiency

A 
normal testes (fully functioning leydigs and sertoli)
46xy
ambiguous genitalia
palpable gonads
no ovaries and uterus
normal 17-ohp
hight testosterone
low dht
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21
Q

most common cause of undermasculinized male

A

resistance to androgen (partial or complete)

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22
Q

features of androgen resistant males

A

ambiguous genitalia

hypospadia

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23
Q

what is true hermaphroditism

A

presence of both testicular and ovarian tissue

most common gonad type: ovotestis

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24
Q

features of bladder exstrophy

A 
bladder protrudes from abdominal wall
epispadias in male
undescended testes
inguinal hernia
broad scrotum
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25
in babies presenting with ambiguous genitalia associated by urogenital anomalies, we can say that the AG is ___
secondary to embryogenesis defect
26
features of micropenis
stretched penile length >2 sd below average < 2 cm at birth < 4 cm before normal puberty
27
causes of micropenis
``` hypogonadotropic hypogonadism (pituitary problem) primary hypogonadism (testes problem) incomplete or partial androgen insensitivity syndrome (PAIS) ```
28
therapy for micropenis
testosterone injections come puberty
29
pertinent blood tests for diagnosis of AG
17-oh progesterone to rule out cah!! electrolytes, rbs, cortisol assay, testosterone assay
30
possible imaging tests for AG diagnosis
``` uts: pelvic, adrenal, renal pelvic mri cystourethroscopy contrast exam of urogenital sinus renogram ivp ```
31
genetic studies for AG diagnosis
fluorescence in situ hybridization (FISH)
32
factors to consider in female/male sex rearing
chromosomal sex gonadal sex phenotypic sex
33
treatment for cah
lifetime: hydrocortisone, fludrocortisone, na 1g/10kg weight females: clitoral plasty or recession, vaginoplasty
34
treatment for cryptorchidism
medical: hcg therapy surgical: orchidopexy (if medical fails)
35
t/f patient with 46xy and complete androgen insensitivity syndrome will be reared as female
true
36
treatment for female sex rearing
surgery: remove testis | estrogen teratment
37
treatment for male sex rearing
medical: gnrh analog or hcg for testicular descent in cryptochorchidism, testosterone for micropenis surgical: orchidopexy to bring testes to scrotum, repair hypospadias
38
when is newborn screening done
immediately after the 24th hour of life
39
method for newborn screening
heel prick method
40
more common endocrine disorders found in nbs
congenital hypothyroidism
41
disorders screened in 6 test panel
``` congenital hypothyroidism cah galactosemia phenylketonuria g6pd deficiency maple syrup disease ```
42
expanded newborn screening includes
``` hemoglobinopathies disorders of aa and organic acid met disorders of fa oxidation disorders of carb met disorders of biotin met cystic fibrosis ```
43
anatomical reasons for congenital hypothyroidism
athyrosis, hypoplasia, ectopic
44
treatment for congenital hypothyroidism
l-thyroxine
45
effects of not screening for congenital hypothy
severe growth and mental retardation
46
newborn screening for cah
21-hydroxylase enzyme deficiency -> confirm with 17-ohp elevation
47
effects of not screening for cah
adrenal crisis salt losers may die simple virilizing (non-salt losers) may have further virilization (F) or precocious puberty (M)
48
pathophysiology of galactosemia
deficiency of enzymes to convert galactose to glucose (GALT)
49
effects of not screening to galactosemia
hepatomegaly, kidney failure, brain damage, cataract, death
50
treatment for galactosemia
strict exclusion of galactose from diet (lactose)
51
pathophysio of phenylketonuria
excessive amounts of waste products of phenylalanine (phenylketones) in the urine
52
effects of not screening for pku
severe mental retardation, growth retardation, microcephaly, seizures
53
treatment for pku
special milk formula
54
pathophysio of msud
inborn error of metabolism due to deficiency in activity of branches chain alpha keto dehydrogenase complex = accumulation of leucine, isoleucine, valine
55
effects of not screening for msud
mental retardation, seizures, death
56
treatment for msud
special milk formula (msu milk)
57
most common condition among filipinos in newborn screening panel
g6pd deficiency
58
gold standard for g6pd def diagnosis
measure actual enzyme activity of g6pd
59
treatment for g6pd def
avoid certain drugs or food
60
effects of not screening for g6pd def
hemolytic crisis
61
effects of not screening for organic acid disorders
developmental delay, breathing problems, neurologic damage, hypogly, seizures, coma, death
62
effects of not screening for fa oxidation disorders
developmental delay, neurologic damage, sudden death, coma and seizures, cardiomegaly, hepatomegaly, muscle weakness
63
hemoglobinopathies identified in nbs
thalassemia and sickle cell disease
64
effects of not screening for hemoglobinopathies
anemia, stroke, multi-organ failure, death

05 Endo (16 decks)

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