Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

causes of masculinized female due to fetal androgens

A

placental aromatase deficiency

congenital adrenal hyperplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

most common cause of female newborns with ambiguous genitalia

A

congenital adrenal hyperplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

hormone pathology in cah

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

causes of undermasculinized male

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

poor testosterone production = ambiguous genitalia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

proteins needed for differentiation of the gonadal ridge

A

wilms tumor 1 protein

steroidogenic factor 1 protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

features of deyns drash syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

anorchia (no testes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

___ enzyme converts testosterone to dht

A

5a reductase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

lack of 5a reductase leads to ___

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

most common cause of undermasculinized male

A

resistance to androgen (partial or complete)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

features of androgen resistant males

A

ambiguous genitalia

hypospadia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

what is true hermaphroditism

A

presence of both testicular and ovarian tissue

most common gonad type: ovotestis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

features of bladder exstrophy

A 
bladder protrudes from abdominal wall
epispadias in male
undescended testes
inguinal hernia
broad scrotum
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

in babies presenting with ambiguous genitalia associated by urogenital anomalies, we can say that the AG is ___

A

secondary to embryogenesis defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

features of micropenis

A

stretched penile length >2 sd below average
< 2 cm at birth
< 4 cm before normal puberty

27
Q

causes of micropenis

A 
hypogonadotropic hypogonadism (pituitary problem)
primary hypogonadism (testes problem)
incomplete or partial androgen insensitivity syndrome (PAIS)
28
Q

therapy for micropenis

A

testosterone injections come puberty

29
Q

pertinent blood tests for diagnosis of AG

A

17-oh progesterone to rule out cah!!

electrolytes, rbs, cortisol assay, testosterone assay

30
Q

possible imaging tests for AG diagnosis

A 
uts: pelvic, adrenal, renal
pelvic mri
cystourethroscopy
contrast exam of urogenital sinus
renogram
ivp
31
Q

genetic studies for AG diagnosis

A

fluorescence in situ hybridization (FISH)

32
Q

factors to consider in female/male sex rearing

A

chromosomal sex
gonadal sex
phenotypic sex

33
Q

treatment for cah

A

lifetime: hydrocortisone, fludrocortisone, na 1g/10kg weight
females: clitoral plasty or recession, vaginoplasty

34
Q

treatment for cryptorchidism

A

medical: hcg therapy
surgical: orchidopexy (if medical fails)

35
Q

t/f patient with 46xy and complete androgen insensitivity syndrome will be reared as female

A

true

36
Q

treatment for female sex rearing

A

surgery: remove testis

estrogen teratment

37
Q

treatment for male sex rearing

A

medical: gnrh analog or hcg for testicular descent in cryptochorchidism, testosterone for micropenis
surgical: orchidopexy to bring testes to scrotum, repair hypospadias

38
Q

when is newborn screening done

A

immediately after the 24th hour of life

39
Q

method for newborn screening

A

heel prick method

40
Q

more common endocrine disorders found in nbs

A

congenital hypothyroidism

41
Q

disorders screened in 6 test panel

A 
congenital hypothyroidism
cah
galactosemia
phenylketonuria
g6pd deficiency
maple syrup disease
42
Q

expanded newborn screening includes

A 
hemoglobinopathies
disorders of aa and organic acid met
disorders of fa oxidation
disorders of carb met
disorders of biotin met
cystic fibrosis
43
Q

anatomical reasons for congenital hypothyroidism

A

athyrosis, hypoplasia, ectopic

44
Q

treatment for congenital hypothyroidism

A

l-thyroxine

45
Q

effects of not screening for congenital hypothy

A

severe growth and mental retardation

46
Q

newborn screening for cah

A

21-hydroxylase enzyme deficiency -> confirm with 17-ohp elevation

47
Q

effects of not screening for cah

A

adrenal crisis
salt losers may die
simple virilizing (non-salt losers) may have further virilization (F) or precocious puberty (M)

48
Q

pathophysiology of galactosemia

A

deficiency of enzymes to convert galactose to glucose (GALT)

49
Q

effects of not screening to galactosemia

A

hepatomegaly, kidney failure, brain damage, cataract, death

50
Q

treatment for galactosemia

A

strict exclusion of galactose from diet (lactose)

51
Q

pathophysio of phenylketonuria

A

excessive amounts of waste products of phenylalanine (phenylketones) in the urine

52
Q

effects of not screening for pku

A

severe mental retardation, growth retardation, microcephaly, seizures

53
Q

treatment for pku

A

special milk formula

54
Q

pathophysio of msud

A

inborn error of metabolism due to deficiency in activity of branches chain alpha keto dehydrogenase complex = accumulation of leucine, isoleucine, valine

55
Q

effects of not screening for msud

A

mental retardation, seizures, death

56
Q

treatment for msud

A

special milk formula (msu milk)

57
Q

most common condition among filipinos in newborn screening panel

A

g6pd deficiency

58
Q

gold standard for g6pd def diagnosis

A

measure actual enzyme activity of g6pd

59
Q

treatment for g6pd def

A

avoid certain drugs or food

60
Q

effects of not screening for g6pd def

A

hemolytic crisis

61
Q

effects of not screening for organic acid disorders

A

developmental delay, breathing problems, neurologic damage, hypogly, seizures, coma, death

62
Q

effects of not screening for fa oxidation disorders

A

developmental delay, neurologic damage, sudden death, coma and seizures, cardiomegaly, hepatomegaly, muscle weakness

63
Q

hemoglobinopathies identified in nbs

A

thalassemia and sickle cell disease

64
Q

effects of not screening for hemoglobinopathies

A

anemia, stroke, multi-organ failure, death

05 Endo (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions