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28 Cards in this Set
- Front
- Back
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A history of hypoglycemia, prolonged jaundice, cryptorchidism, and microphallus suggest what?
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Hypopituitarism
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A 5-year presents for his wcv. He's grown 1 inch in the past year. Worried about his poor growth velocity (< 2 inches/year), you order films for a bone age determination. He has a delayed bone age. What's your ddx?
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1) Constitutional short stature (late bloomer) - ask parents about puberty
2) Hypothyroid - measure thyroid levels 3) Hypercortisol - ask about steroid use 4) Growth hormone deficiency - low IGF-1 --> daily subcu injections of growth hormone 5) Chronic disease |
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A 5-year presents for her wcv. She's grown 1 inch in the past year. Worried about her poor growth velocity (< 2 inches/year), you order films for a bone age determination. She has a normal bone age. What's your ddx?
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1) Family short stature - comes from a short family
2) IUGR 3) Turner syndrome 4) Skeletal dysplasia - achondroplasia/ricketts |
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When does female puberty begin?
When does male puberty begin? |
7-13 years
9-14 years |
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What is the role of FSH/LH in males and females?
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Males
1) FSH - stimulate SPERM production 2) LH - stimulate ANDROGEN production Females 1) FSH - stimulate production of ovarian follices 2) LH - LH surge responsible for ovulation |
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Mom is worried because her 1-year old daughter has breast buds. What do you tell her?
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Re-assure her that premature thelarche in first two years of life is COMMON
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What's precocious puberty and what's your work-up?
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Definition
1) Boys - puberty changes before 9 2) Girls - thelarche/adernarche before 7 OR menarche before 9 Work-up GnRH stimulation test 1) If precocious puberty caused by early activation of HPG axis, DRAMATIC INCREASE IN LH 2) If precocious puberty caused by peripheral production of male/female steroids, NO INCREASE in LH |
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You determine that a boy's precocious puberty is caused by early activation of the HPGA. What's your next step?
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MRI in ALL BOYS
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On your GU exam, you note that your 6-year old patient has pubic hair. How do you know that his early pubertal onset is caused by peripheral production of testosterone?
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NO TESTICULAR ENLARGEMENT (need FSH for testicular enlargmenet)
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Name the syndrome:
6-year old boy presents with cafe-au-lait spots, testicular enlargement, and bony changes. |
McCune-Albright syndrome - cause of peripheral precocious puberty that causes testicular enlargment
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Define delayed puberty and the two causes
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Delayed puberty
1) Males: no testicular enlargement by 14 2) Females: no breast tissue by 13; no menarche by 14 Causes 1) Dysfunctional hypothalamus/pituitary 2) Dysfunctional gonads |
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How can hypothyroidism affect puberty?
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1) Can cause central precocious puberty with poor growth and delayed bone age
2) Can cause central delayed puberty |
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Name the syndrome:
Pubertal delay (2/2 FSH and LH deficiciency) AND inability to smell |
Kallmann syndrome
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Name the syndrome:
Obesity, retinitis pigmentosa, hypogonadism, and polysyndactyly |
Lawrence-Moon-Biedl syndrome
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A newborn is born with ambigious genitalia but karyotyping reveals 46 XX. Mom denies using any virilizing drugs during pregnancy. What's your most likely diagnosis?
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Congenital adrenal hyperplasia - poor cortisol is hallmark leading to increased ACTH and ADRENAL HYPERPLASIA
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CAH can be caused by a number of deficiencies. What deficiencies do the following babies have?
1) Newborn baby (46 XX) with ambigious genitalia has life-threatening vomiting/dehydration and hypotension. 2) Newborn baby (46 XX) with ambigious genitalia. No other abnormalities noted. 3) Newborn baby (46 XX) with ambigious genitalia has increased BP/hypokalemic |
1) Severe 21-hydroxylase deficiency - salt-wasting b/c of no minerolocorticoid
2) Simple virilizing CAH - only increase in cortisol 3) 11B-OH deficiency |
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How can you tell the difference between primary and secondary adrenal insufficiency?
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Primary adrenal insufficiency will present with hyperpigmentation and hyperkalemia
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Baby presents with congenital adrenal hyperplasia. Diagnostic work-up shows
1) Increased 17-OHP levels 2) Increased levels of specific compound S 3) Increased levels of DHEA and 17-hydroxypregnenolone What's the enzyme deficiency |
1) 21-hydroxylase
2) 11B-OH 3) 3B-hydroxysteroid |
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Define type I and type II polyglandular syndromes
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Type I - adrenal insufficiency, hypothyroid, type I DM
Type II - adrenal insufficiency, |
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How can you test for adrenal insufficiency?
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ACTH stimulation test
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Type I DM is associated with which HLA haplotypes?
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DR3 and DR4
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What Ab are present in patients with type I DM?
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Islet cell Ab
Ab against insulin and glutamic acid decarboxylase |
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A 6-year old with DM I presents to your ED with a 6-hour hx of vomiting, abdominal pain, and lethargy. A FSG reads "too high to read." His BMP reveals hyperkalemia and a gap acidosis. UA is strongly positive for ketones. What's your dx and your next step in management?
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DKA
1) Tx - combo of IV fluids and insulin - monitor K carefully |
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1-month old presents with history of prolonged jaundice and poor feeding. On PE, you note large anterior/posterior fontanelles, an umbilical hernia, and mottled skin. What's your next step?
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Check thyroid function tests and start thyroid replacement IMMEDIATELY
* Most cases of congenital hypothyroid are caused by thyroid dysgenesis * |
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2-year old presents with persistently bowed legs, short stature, prominent costochondral junctions, craniotabes, and delayed suture closure. Wrist X-rays show CUPPING at the distal end of the metaphysis. What's the most likely dx and what will labs likely show?
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Rickets - vitamin D deficiency leading to deficient mineralization of growing bones
Labs: low phosphate, calcium, and elevated alk phos |
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What is hypoglycemia and what are the clinical manifestations in newborns and older children?
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Hypoglycemia - serum glucose < 40
1) Newborns - myoclonic jerks, cyanosis, seizures 2) Older children - similar to adults |
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5-day old newborn presents with persistent neonatal hypoglycemia (> 3 days). What's your DDX?
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Hyperinsulinism
1) Nesidioblastosis - islet cell hyperplasia 2) Beckwith-Wiedemann syndrome - visceromegaly, hemihypertrophy, macroglossia Hereditary defects in carb metabolism Hormone deficiencies (GH/ cortisol deficiency) |
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What is the most common cause of hypoglycemia in children 1-6 years of age and what's the underlying pathophys?
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Ketotic hypoglycemia - hypoglycemia occuring in late AM in presence of ketonuria and low insulin levels - cannot adapt to fasting state
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