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05 Endo > Early and Delayed Puberty > Flashcards

Early and Delayed Puberty Flashcards

1
Q

years of puberty for boys and girls

A

girls: 10-14
boys: 12-16

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2
Q

3 peaks of hpg

A

fetal midgestation
postnatal first 1-6 mos
puberty

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3
Q

hpg status in early childhood to pre-pubertal

A

dormant, undetectable serum lh and sex hormones

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4
Q

hpg secretion in peripuberty

A

low in the daytime, increases in amplitude and frequency during sleep

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5
Q

hpg secretion mid-puberty

A

lh pulses become evident even duing daytime and occur about 90-120 min intervals

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6
Q

hormone sequence in hpt axis

A

gnrh -> fsh and lh
fsh -> sertoli cells inhibin b
lh -> leydig cells -> testosterone -> estradiol

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7
Q

effects of estradiol

A

breast development (gynecomastia for males), growth acceleration, skeletal (bone) maturation

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8
Q

role of adrenals in puberty

A

produce dhea and dhea-s (marker for adrenal androgen secretion)
incerases at 6-8 yo

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9
Q

first changes in females

A

breast budding (some pubic and axillary hair)

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10
Q

first changes in males

A

testicular enlargement

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11
Q

breast development stages

A

1 - prepubertal with no palpable breast tissue
2 - breast bud, elevation of papilla and enlargement of areolar diameter
3 - enlargement without separation of areolar contour
4 - areola and papilla project, forms secondary mound
5 - recession of areola to match contour of breast, papilla projects beyond contour of breast

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12
Q

pubic hair development stages (female)

A

1 - prepubertal with no pubic hair
2 - sparse, straight hair along lateral vulva, pigmented
3 - darker, coarser, curlier, extends over mid-pubis
4 - adult like but doesnt extend over thighs
5 - adult, from thigh to thigh

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13
Q

external genitalia development (males)

A

1 - prepubertal
2 - testes and scrotum enlarge, scrotal skin reddens and changes texture
3 - enlargement of penis (length at first)
4 - increased size of penis, development of glans, testes and scrotum become larger, scrotal skin darker
5 - adult

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14
Q

pubic hair development (male)

A

1 - prepubertal
2 - sparse, straight pubic hair along base of penis
3 - darker, coarser, curlier extending over mid-pubis
4 - adult-like, but not extending to thighs
5 - adult, thigh to thigh

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15
Q

size of beads for comparison for testicular vol

A

prepubertal: 1-3 ml
pubertal: 4-12 ml
adult: 12-25 ml

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16
Q

girls peak height velocity

A

tanner stage 2-3

peak height velocity occurs before menarche

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17
Q

boys peak height velocity

A

tanner stage 4-5

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18
Q

t/f fusion of the epiphyses of the left hand is not a good indicator for further elongation

A

false, fusion of epiphyses in the left wrist and hand indicates no further elongation should be expected from the patient

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19
Q

___ in females leads to earlier breast development, pubic hair, or menarche

A

obesity

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20
Q

precocious puberty for f/m

A

f: before 8 yo
m: before 9 yo

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21
Q

delayed puberty for f/m

A

f: after 13 yo
m: after 14 yo

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22
Q

features of precocious puberty in girls

A 
before 8 yo
breast development (first sign)
earlier growth spurt
pubic and axillary hair
menstruation
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23
Q

features of precocious puberty in boys

A

before 9 yo
enlargement of testes (first sign)
pigmentation of scrotum and penile growth
pubic and axillary hair, earlier growth spurt, acne and deepened voice

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24
Q

diagnostic tests for precocious puberty

A 
bone age
fsh, lh, estradiol for f
baseline testosterone for m
gnrh stimulation test
17-ohp, tsh, ft4, hcg
pelvic and adrenal uts
cranial mri/ct
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25
Q

result of gnrh stimulation test in central peripheral puberty

A

increased lh response

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26
Q

abnormal results of blood tests for precocious puberty

A

17-ohp: cah
tsh and ft4: thyroid
hcg: gonadotropin secreting tumor

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27
Q

imaging tests for precocious puberty

A

pelvic and adrenal uts: ovary pathology or adrenal tumor

mri: hypothalamic or pituitary tumor

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28
Q

classification of precocious puberty

A

central: gonadotropin dependent (true), hpg axis is activated
peripheral: gonadotropin independent
incomplete or partial pubertal development

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29
Q

causes of organic cns/brain lesion

A

hypothalamic hamartoma
secretory brain tumors
cns infections (encephalitis, tb meningitis)

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30
Q

factors that are more likely organic causes of central pp

A

boys (75%) and younger boys (< 6 yo)

girls with rapid breast development, estradiol > 30 pg/ml, < 6 yo

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31
Q

clinical manifestations of central pp

A 
intracranial lesions with hypothalamic signs and symptoms
visual signs (suggests intracranial
headache (upon waking up = more intracranial)
32
Q

pathophysio of hypothalamic hamartoma

A

caused by ectopic neural tissue

glial cells produce tgf-b which activated gnrh pulses

33
Q

signs and symptoms of hypothalamic hamartoma

A

gelastic or psychomotor seizures

rapid progressive sexual precocity in very young children

34
Q

types of gonadotropin-secreting tumors

A

liver, cns, mediastinum, gonads, adrenals

elevated hcg and a-fetoprotein

35
Q

gonadotropin secreting tumors are more common in ___

A

boys, 10-20x more

36
Q

pathophysio of pp hypothyroidism

A

elevated tsh interacting with fsh receptors affecting bone age

37
Q

features of pp hypothyroid

A

f: breast enlargement and menses
m: testicular enlargement, modest or no penile development, no pubic hair

38
Q

the risk of sexual precocity is _____ to the age of the child at the time radiation was given

A

inversely proportional (lower age = more pp)

39
Q

other diseases associated with irradiation of the brain

A

gh deficiency and hypothyroid

40
Q

idiopathic precocious puberty is particularly seen in ___

A

girls, they have pubertal lh response to gnrh stimulation tests

41
Q

isosexual causes of peripheral pp in f

A 
mccune albright syndrome
autonomous ovarian cysts
ovarian tumor
ovarian follicular cyst
granulosa cell tumor
exogenous estrogens
42
Q

heterosexual causes of peripheral pp in f

A 
non-salt wasting cah
adrenal tumors
ovarian tumors
gonadoblastoma
sertoli-leydig cell tumors
exogenous androgens
43
Q

triad of mccune albright syndrome

A

precocious puberty
patchy cutaneous pigmentation
fibrous dysplasia of skeletin

44
Q

pathophysio of mccune albright syndrome

A

missense mutation, activation of acth, tsh, fsh, and lh causing autonomous hyperfunction
normal to high estradiol

45
Q

presentation of virilizing cah in females

A

due to untreated cah -> hirsutism, advanced bone maturation, compromised adult height

46
Q

isosexual causes of peripheral pp in m

A 
cah* (can be salt wasting or non salt wasting)
adrenocortical tumor
leydig cell tumor
familial male pp
exogenous androgen
47
Q

heterosexual causes of peripheral pp in m

A

feminizing adrenocortical tumor

exogenous estrogen

48
Q

presentation of cah in males

A

untreated cah -> non-salt wasting -> pubic hair, advanced bone maturation, compromised adult height

salt wasting cah is life threatening

49
Q

pathophysio of familial male pp

A

rare autosomal dominant missense mutation of lh receptor -> activation of camp production and leydig cells

50
Q

features of familial male pp

A

slightly enlarges testes with leydig cell maturation and hyperplasia
elevated testosterone
lh at prepubertal levels, no pulsatile secretion, no response to stimulation

51
Q

age of premature pubarche

A

f: 8
m: 9

f > m

52
Q

pathophysio of premature pubarche

A

early maturational event of adrenal androgen production, precocious maturation of zona reticularis, increased basal and acth-stimulated [17-oh pregnenolone, dhea, androstenedione]

53
Q

causes of premature menarche

A

common: vulvovaginitis, foreign body, sexual abuse
uncommon: urethral prolapse, sarcoma botryoides

54
Q

most common cause of medicational precocity

A

testosterone gels or creams causing virilization of children and women

55
Q

causes for pp due to prolonged exposure to edc

A

industrial solvents and their by-products, plasticss (BPA), plasticizers, pesticides

56
Q

outcomes of untreated pp

A

increased rate of bone maturation -> early closure of epiphysis, less than expected height, emotional behavior and mood swings

57
Q

medical therapy for pp

A

gnrh-agonist therapy injected every 3-4 weeks
levothyroxine for hypothyroid
glucocorticoid for cah

58
Q

indications for gnrh agonist treatment

A

most boys with central pp
girls with rapidly progressive precocious puberty
children who are small for gestational age (more aggressive treatment)

59
Q

types of gonadal dysfunction in delayed puberty

A 
hypergonadotropic hypogonadism (primary - at gonadal level)
hypogonadotropic hypogonadism (secondary or tertiary - pituitary or hypoth)
60
Q

clinical manifestation of delayed puberty

A 
absence of secondary sexual characteristics
short stature: turner and prader willi
tall stature: klinefelter
congenital abnormalities
neuro symptoms
61
Q

an arm span > height suggests ___

A

delayed epiphyseal closure secondary to hypogonadism

62
Q

test that differentiates primary, secondary, or tertiary hypogonadism

A

serum lh and fsh, estradiol (f) testosterone (m)

63
Q

test that detects hyperprolactinemia

A

serum prolactin

caused by prolactinoma or hp disorder

64
Q

test for cns diseases

A

serum free t4 and low tsh

65
Q

test that distinguishes between congenital gnrh deficiency and constitutional delay of puberty

A

adrenal androgen test (serum dhea-s)

gnrh deficiency likely have normal adrenal maturation and normal dhea-s

66
Q

test for evaluation of klinefelter (m) and turner syndrome (f)

A

karyotyping

67
Q

initial screening for delayed puberty

A

cbc, esr, bun, crea, lft

68
Q

results of progesterone challenge

A

(+) withdrawal bleeding: intact outflow tract, functional ovary, pit, and cns, likely due to anovulation
(-) withdrawal bleeding: require administration of hormonal cycle of estrogen with progesterone

69
Q

imaging for delayed puberty

A

xray for bone age
pelvic uts: +/- uterus
cranial mri: for neuro and kallman syndrome

70
Q

non-pathologic causes of delayed puberty

A

constitutional delay (90%) - malabsorption, underweight, chronic illness, (+) family history

71
Q

primary pathologic reasons for delayed puberty

A

high fsh and lh

congenital: turner syndrome (45xo), klinefelter syndrome (47, xxy)
acquired: autoimmune or post infectious disease, trauma/surgery, chemo/rad

72
Q

secondary pathologic reasons for delayed puberty

A

low to normal fsh and lh

73
Q

what is eugonadism

A

presents with anatomic abnormalities of the target organ or outflow tract, mullerian agenesis, vaginal septum, imperforate hymen, androgen insensitivity

74
Q

features of turner syndrome

A

short stature, gonadal dysgenesis -> delay in puberty

75
Q

features of klinefelter syndrome

A

tall height, prominent breasts, small testes

05 Endo (16 decks)

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