Endo/Repro/Genetics Flashcards
What are sx of central precocious puberty? Dx? Tx? next step?
- accelerated bone growth
- high FSH/LH due to early activation HPO axis
Dx: GnRH stimulation test –> LH/FSH should increase
Tx: GnRH therapy to maximize height / prevent epiphyseal closure
next step: do CT/MRI to r/o pituitary/hypothalamus tumor
What does it tell you if LH/FSH increase by a lot when you give GnRH
central precocious puberty
What are sx of peripheral precocious puberty? Dx? next step?
- accelerated bone growth
- low FSH/LH
- M will not have enlarged testes
Dx: GnRH stim test –> LH/FSH flat
next step: do pelvic US to look for source of hormone
What is McCune Albright?
3 P’s
- precocious puberty
- pigmentation (cafe au lait)
- Polyostotic fibrous dysplasia (bone defects)
What is cause of primary dysmenorrhea? Tx?
release of prostaglandins from endometrium cause contraction
treat = NSAIDS
What are 4 causes of secondary dysmenorrhea?
endometriosis: uterosacral nodulartiy, adnexal tender
adenomyosis: uterine tender and enlarged
pelvic infection: CVM
uterine leiomyoma: uterine contour irregularity, heavy bleed
What are steps for evaluation primary amenorrhea?
if no secondary sex characteristics do pelvic exam/US
- if uterus present do FSH
- — increased FSH –> karyotype
- — decreased –> cranial MRI
- uterus absent: karyotype and T
- – 46 XX w/ normal T –> abnormal mullerian dev
- – 46 XY w/ high T –> androgen insensitivity
When is amenorrhea normal?
isolated amenorrhea w/ 2ndary sex characteristics normal to 16
w/ absent sex characteristics normal to 14
What are some med treatments for acute abnormal uterine bleed?
- high dose estrogen, progestin, or combined OCP
- tranexamic acid
What is most common cause abnormal uterine bleeding in adolescents?
immature HPO axis causing anovulatory cycles
When do you treat cryptorchidism? complications? effect of surgery?
treat before 1 year
complications _ inguinal hernia, testicle torsion,
surgery decreases but does not eliminate risk of cancer, subfertility; does eliminate risk of torsion
MC complication = subfertility
What is MCC acute scrotal pain/swelling in boy 12+? tx?
testricular torsion
= surgical emergency, can save if treat in 4-6 hrs
What ia a varicocele?
common after 10 mo
dilation of pampiniform venous plexus
–> bag of worms on palpation, reduced sperm count, reassurance for now, eventually may need surgery
usually L side
What is a hydrocele?
accumulation fluid in tunica vaginalis, usually resolves spontaneouls in year 1
dx: transilluminates, do not need to do US for confirmation
What is complete androgen insensitivity?
46 XY mut androgen receptor
breast dev, absent uterus and upper vagina, cryptorchid testes
minimal or absent pubic/axillary
keep testes in until puberty to help patient reach full height
What is mullerian agenesis?
46 X
absent or rudimentary uterus and upper vagina, normal ovaries, breast dev,
normal pubic hair
What is traverse vaginal septum?
46 XX
malrotation of urogenital sinus an dmulleim
normal uterus/ ovaries /pubic/ breast
abnormal vagina
What happens to sex characteristics in turner?
normal uterus and vagina w/ streak ovaries
low estrogen, high FSH b/c lack of negative feedback
normal axillary/pubic hair
What is presentation noonan syndrome?
short stature, ptosis, webbed neck, shield chest, cryptorchid, edema hand/feet
pulm stenosis
What is presentation kallman?
47 XY, XR failure GNRH and olfactory neurons to migrate
short stature, delayed/absent puberty
anosmia
can be F but usually M
What is presentation klinefelter
tall, marfinoid
What presentation / lab values in 21 hydroxylase deficiency?
- virilization
- vomiting/hypotension
- low cortisol/aldosterone
- high testosterone
- high 17 hydroxyprogesterone
high Na, high K
What is presentation / lab values in 11B hydroxylase?
- virilizatoin
- fluid/salt retention, hypertension
- low cortisol/aldosterone
- high testosterone
- high 11 deoxycorticosterone
- high 11 deoxycortisol
What is presentation / lab values 17 a hydroxylase?
- phenotypically female
- fluid/salt retention, hypertension
- low cortisol, high testosterone, high mineralocorticoids, high corticosterone
What is MC etiology congenital hypothyroid?
thyroid dysgenesis
What is presentation congenital thyrotoxicosis?
tachycardia/tachypnea, irritability, hyperactivity, low birth weight, thrombocytopenia, jaundice, hsm, heart failure
what should you think if thyromegaly in a kid?
most common = lymphocytic (hashimoto) thyroiditis
What is cushing syndrome?
moonlike facies, bruises, hypercortisol 2/2 ACTH secreting pituitary tumor
What are sx of bilateral adrenal hyperplasia? MCC?
cushingoid features
adrenal carcinoma = MC in infants
What is MCC cushingoid features in kid?
bilateral adrenal hyperplasia
What is albright syndrome? lab values?
pseudohypoparathryoidism = resistance to action of PTH
- low Ca, high Phos, high PTH
sx: short, delayed bone age, intellect disability, increased bone density, obesity w/ round face + short neck, cutaneous/subcutaneous calcifications, calficiations in basal ganglia
What is rickets? sx? labs? xray?
lack of vit D
decreased bone mineralization, craniotabes, delayed fontanelle closure, large skull, genu varum, large costochondral joints (never see this in normal)
low/normal Ca/Phos, high alk phos, high PTH, low vit D, low urine Ca
xray: osteopenia, metaphyseal cupping/fraying, epiphyseal widening
What is rickets unresponsive to vit D?
genetic abnormality in renal tubular absorption
normal Ca, low phos, high urine phos, decreased conversion vit D
What is presentation hypoparathyroidism? labs?
seizure, numbness, tingling, decreased bone resorption, decreased excretion phos, decreased vit D conversion, decreased absorption Ca
low Ca, high Phos
What labs do you see in medullary carcinoma of thryoid?
normal Ca/Phos but high calcitonin
What is diabetes insipidus? labs?
absent vasopression –> have polyuria, polydipsia, hypotonic large volume urine
labs: high Na/K
What labs do you see in hyperaldosteronism?
low K, high Na, high Cl, alkalosis
What is addison disease? labs?
combined deficiency glucocorticoids + mineralocorticoids
increased Na loss –> deplete blood volume –> in shock/crisis w/ low Na, high K
normally (not crisis state) will have normal electrolytes b/c compensated
What is acanthosis nigricans?
dark stainin gof back of neck/shoulders in DM2
What do you need to dx DM2?
- fasting glucose > 126 OR
- 2 hr oral gluocse > 200
OR
sx + random glucose > 200
What is treatment for labial adhesions?
topical estrogen cream for a week
What is cri-du-chat? genetics?
5p deletion
sx: hypotonia, short, microcephaly, hypertelorism, b/l epicantahl folds, high arched palate, mental retardation, self injury, repetitive behavior, intellect disability
What is beckwith wiedemann? genetics?
dysregulation imprinted gene ch 11
sx: fetal macrosomia, rapid growth, omphalocele or umbilical hernia, macroglossia, hemihyperplasia
complications: wilms, hepatoblastoma
hypoglycemia at birth b/c fetal hyperinsulinism
do screening ab US and AFP every 3 mo
What is patau?
trisomy 21
cleft lip(!!), polydactyly, intellect disability, FTT, seizure, cardiac malformations
What is prader willi?
papa’s gene deleted chr 15
hypotonia, hypogonad, hyperphagia, obesity
few movements in utero from hypotonia
What is angelman?
mama’s gene deleted chr15
happy puppet, unprovoked bursts of laughter, unusual gait
What is edward syndrome?
trisomy 18
low birth weight, closed fists, 3rd and 5th digit overlap (!!), microcephaly, prominent occiput, micrognathia, rocker bottom feet, VSD(!!)
What is down syndrome? sx? what GI/cardiac/endo abnormalities? physical sx?
trisomy 21
GI: duodenal atresia
cardiac: AV canal > VSD > ASD
endo: hypothryoid, DM1
protruding tongue, brushfield spots, redundant neck skin, MR
What is fragile X?
sx: large head, prominent forehead, joint laxity, large testes, hyperactivity, autism, learning disability
FMR1 gene CGG repeats
What is william’s syndrome? what cardiac abnormality?
friendly, no social boundaries, love music
supravalvular aortic stenosis
What is alport syndrome?
hematuria, progressive nephritis, deafness, ocular defects
marfan syndrome?
marfinoid body –> pectus excavatum, joint hypermobility, scoliosis, long face, palate high arch, crowded teeth
normal intellect
aortic root dilation
upward lens dislocation
mutation fibrillin-1
What are most common infections in CF?
staph aureus = MC in young kids esp w/ concurrent influenza –> start empiric anti-staph
What are GI problems in CF? ultrasound finding?
meconium ileus, dilated loops of bowel, microcolon from disuse
prenatal US = echogenic bowel
What is major complication of CF?
congenital b/l absence vas deferens –> infertility
How do you dx CF?
sweat test = quantitative pilocarpin iontophoreis –> induce sweat and measure CL > 60
