Endo/Development Flashcards
What age should kids be able to transfer things between their hands?
6months
Red flag: not being able to fix and follow by _____
3months
Baby’s should be able to coo/laugh by about ______
3-4 months
Baby should be able to sit unsupported by ____
6 months
Red flag: unable to walk (or walk only on tip toe at any stage)… What age _____
18 months
Red flag: Unable to run by _____
3 years
Should be able to build a tower of 6 cubes by ____ and 9 cubes by _______
2 years and 3 years
Autism generally diagnosed _____
2-4 yo
DM 1 has a bimodal presentation at which age ______
Age 5-7 and Puberty
Classic DM presentation/questions? (4 things)
Polyuria (nocturia, secondary eneuresis), polydipsia, LOW, polyphagia
UEC on DKA?
Raised Urea, Creatinine and Postassium
DKA Mx: FUCKING
Fluids UEC and Bloods Consider catheter K replacement - usually start once 3.5-4 Insulin Next and Na: Fluids and sodium and stuff Glucose - Aim BL: 5-12mmol/L. Titrate Dextrose.
Pathophysiology for CAH?
21 hydroxylase deficiency. Autosomal recessive enzyme defect which leads to impaired production of glucocorticoids and mineralocorticoids.
Leads to increased production of sex hormones
Bicochemical test for diagnosing CAH?
Test for 17-dehydroxyprogesterone. Should be elevated
Prolonged jaundice, consstipation, slugghish, hoarse cry and macroglossia, coarse facial features.
Congenital hypothyroidism
What can congential hypothyroidism lead to?
Preventable intelectual and developmental disability.
Neonatal hyperthyoidism (graves) is due to
transplacental passage of maternal thyroid stimulating Abs from mum with Grave’s disease.
How do you manage Grave’s?
Carbimazole
Inadequate protein intake with reasonable caloric intake (skinny baby with big belly - refugee)
Kwashiorkor
Risk factors for Vit D def (Rickets)
Lack of exposure to sunlight
Dark Skin
Medical conditions
Medications (Isoniazid, rifampicin, anticonvulsant)
Wrist widening, muscular bone pain, hypoC symptoms, delayed dentition or closure offontanelle
Rickets!
Bow legs and knock knees are normal in ____
Bow legs normal in toddlers (resolve by 2-3yr)
Knock knees normal between 3-5y and resolve by about 8y.
Order of pubertal changes in females?
- Thelarche
2 Pubarche - Growth sput
- Menarche (2 years after thelarche)
Late pubert in males classiffied as lack of testicular enlargement by _____
14 years of age
Baby should be able to crawl by
9 months
Baby should be able to walk unsupported by
15months
Should be able to hop on one leg by _____
4 years
Should be able to ride a tricycle and walk up stairs by
3 years
Should be able to walk up and down stairs with railing
by 2 years
Should be able to sit without supported
by 7-8 months
Should be able to be pulled to sit with little or no head lag by
3 months
Should be able to roll front to back, pulls self to sitting
by about 6months
Strawberry tongue, facial sparing rash
Scarlet fever
What are the heart defects associated with William’s syndrome?
Supravalvular aortic stenosis and peripheral pulmonary stenosis
Small chin, posterior displacement of tongue and cleft palate
Pierre Robin Syndrome
Small chin and Rocker bottom feet
Edward’s syndrome.
Rocker-bottom feet also seen in Patau’s Syndrome - but when seen in combination with micrognathia - Edward’s is most likley
Microcephaly, small eyes, Cleft palate, Polydactyly, SCALP LESIONS
Patau syndrome (Trisomy 13)
Micrognathia, Low set ears, Rocker bottom feet, overlapping of fingers
Edward’s syndrome
Macrocephaly, long face, large ears, Small testes
Fragile X
Webbed neck, pectus excavatum, short stature and pulmonary stenosis
Noonan’s syndrome
Micrognathia, Posterior displacement of the tongue, cleft palate
Pierre Robin Syndrome
Hypotonia, Hypogonadism, Obesity
Prader Willi Syndrome
Short stature, Learning difficulties, Extrovert personality, transient neonatal hypercalcemia, Supravalvular aortic stenosis or pulmonary stenosis
William’s Syndrome
What are four risk factors for DDH?
Female sex, Breech presentation, first born child (or fam hx) or Oligohydramnios
What hearing test is done for newborns?
Screenign through Otacoustic emission test
What test is done if Otoacoustic emission test is abnormal?
Auditory brainstem response test
Distraction hearing tests is done at age ____
6-9months
Pure tone audiometry test are done after age
3
Diagnosis of fetal alcohol syndrome has 3 components which are:
- Characteristic facial anomalies - smooth philtrum, thin vermillon border and small palpebral fissures (Small eye opening, low nasal bridge, short nose and thin upper lip)
- Growth retardation such as IUGR and failure to have “catch up” growths
- CNS involvement such as cognitive impairment, learning disabilities, or behavioural abnormalities
There is some delay shown in AP XRAY of left hand and wrist for bone age in _______.
There is marked delay for ____
Some delay for constitutional delay of growth and puberty.
Marked delay for hypothyroidism and other endocrine causes.
______ syndrome: condition due to defective HR receptors resulting in GH insensitivity. Patients with this condition have high GH, but low levels of downstream activation (IGF-1) produced at growth plates and in the liver
Laron syndrome
GH causes two things:
1.
2.
GH causes chondrocyte proliferation and,
GH causes IGF release - this acts on long bones and liver
Arginine, Clonidine, insulin and dopamine cause a physiological ______ in GH
Increase in GH
5 indications fo GH deficiency (stimulation testing):
1. Height
- Height <3rd percentile
- Decreased growth velocity
- Midline craniofacial anomalies
- Episodes of hypoglycaemia
- Delayed Bone age, puberty
Side effects: pancreatitis, transient gynecomastia, increase of growth/pigmentation of nevi
GH therapy
The posterior fontanelle closes by ____ weeks and the anterior by ____ months
Posterior 8 weeks
Anterior Fontanelle 12-18mo
If a child has significant macrocephaly and crossing percentiles - check for ____- . And with which investigations?
Check for raised ICP. if fontanelle open - U/S. If closed - otherwise MRI/CT
How do you manage congenital Hyperthyroid (due to maternal graves)?
Carbimazole until 2-3mo of life.
Can consider Beta-blocker for Fetal tachy
Most common cause of congenital hypothyroidism?
85% are primary cases due to sporadic - mostly thyroid genesis
3 causes of transient hypothyroidism?
- Maternal antibody related
- Iodine def
- Prenatal exposure to anti-thyroid meds
