Endo/Development Flashcards by Nalin Choudhary

What age should kids be able to transfer things between their hands?

6months

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Red flag: not being able to fix and follow by _____

3months

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Baby’s should be able to coo/laugh by about ______

3-4 months

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Baby should be able to sit unsupported by ____

6 months

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Red flag: unable to walk (or walk only on tip toe at any stage)… What age _____

18 months

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Red flag: Unable to run by _____

3 years

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Should be able to build a tower of 6 cubes by ____ and 9 cubes by _______

2 years and 3 years

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Autism generally diagnosed _____

2-4 yo

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DM 1 has a bimodal presentation at which age ______

Age 5-7 and Puberty

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Classic DM presentation/questions? (4 things)

Polyuria (nocturia, secondary eneuresis), polydipsia, LOW, polyphagia

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UEC on DKA?

Raised Urea, Creatinine and Postassium

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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.

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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

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Bicochemical test for diagnosing CAH?

Test for 17-dehydroxyprogesterone. Should be elevated

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Prolonged jaundice, consstipation, slugghish, hoarse cry and macroglossia, coarse facial features.

Congenital hypothyroidism

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What can congential hypothyroidism lead to?

Preventable intelectual and developmental disability.

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Neonatal hyperthyoidism (graves) is due to

transplacental passage of maternal thyroid stimulating Abs from mum with Grave’s disease.

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How do you manage Grave’s?

Carbimazole

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Inadequate protein intake with reasonable caloric intake (skinny baby with big belly - refugee)

Kwashiorkor

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Risk factors for Vit D def (Rickets)

Lack of exposure to sunlight
Dark Skin
Medical conditions
Medications (Isoniazid, rifampicin, anticonvulsant)

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Wrist widening, muscular bone pain, hypoC symptoms, delayed dentition or closure offontanelle

Rickets!

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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.

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Order of pubertal changes in females?

Thelarche
2 Pubarche
Growth sput
Menarche (2 years after thelarche)

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Late pubert in males classiffied as lack of testicular enlargement by _____

14 years of age

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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

Diagnosis of fetal alcohol syndrome has 3 components which are:

1. Characteristic facial anomalies - smooth philtrum, thin vermillon border and small palpebral fissures (Small eye opening, low nasal bridge, short nose and thin upper lip) 2. Growth retardation such as IUGR and failure to have "catch up" growths 3. 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

1. Height <3rd percentile 2. Decreased growth velocity 3. Midline craniofacial anomalies 4. Episodes of hypoglycaemia 5. 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?

1. Maternal antibody related 2. Iodine def 3. Prenatal exposure to anti-thyroid meds