6. Males: no marked effect on genitalia so might go undetected at birth
7. Salt losing form (“classic”): usually present in a crisis at about age 2 weeks (salt wasting and acute adrenal crisis)
8. Simple form: may go undetected until about 6 months of age and at that time they show signs of androgen excess like pubic and axillary hair, body odor
20. IF the couple already has a baby who had CAH or are known carriers, then mom should take oral dexamethasone for the first 10 weeks. Fetal cells then need to be sampled – either by CVS at 10-12 weeks or amnio at 14-18 weeks
21. Gender is determined, and f male then mom stops taking the dexa; if female mom keeps taking the dexa and more testing is done (the dexa is used to help prevent virilization of the females)
24. Need to replace both glucocorticoid (hydrocortisone) and mineralocorticoid (fludricortisone); high dose hydrocortisone actually will have both a gluco and also a mineralocorticoid effect so can effectively treat
25. Stress dose of hydrocortisone os considered 100mg/m2/day
27. Understand the value of neonatal screening for salt-losing CAH in male infants with normal genitalia
28. Since they are difficult to phenotypically identify at birth, having the neonatal test will help catch them before they come in suffering from an acute adrenal crisis around age 2 weeks
30. Has a low specificity in exchange for very high sensitivity, and in fact about 98% false positive rate
31. Cases manifesting with low elevations (40-100ng/mL) can usually be repeated; if the level is higher than 100 on the initial test that needs to be urgently addressed, get serum lytes and bring peds endo on board promptly
32. Understand that maternal exposure to androgens and progestins can cause virilization in female infants
39. Kids who are on the low end (<3rd percentile) on the growth curve usully fell their sometime during the first 2 years of life and then follow their own curve afterward; they should maintain a normal growth rate.
45. Familial short stature, growth hormone deficiency, hypothyroidism, chronic disease, malnutrition are among the most common causes of short stature (worldwide the leading cause is malnutrition)
46. Plan the evaluation of children whose height has decreased from the 20th to the 5th percentile
47. Important to know at what age and over what time period this happened. For example it is “normal” for a child to fall down curves prior to age three and then maintain themselves on their new, lower curve. It is NOT normal for a child to fall off curves AFTER age 3 and this always requires further evaluation
48. Assess the reliability of the measurements, calculate the growth velocity, analyze weight for height in the context of target height (need to know parental heights)
49. If no known growth velocity then need to measure a second height in 3 to 6 months
51. If well nourished / obese then need to look for an endocrinopathy like GHD, hypothyroidism, glucocorticoid excess; need to check a bone age, serum IGF-1
52. If undernourished or low weight for height or an initial decline in weight followed by decreased growth velocity then need to look for primary GI, nutritional, renal or other chronic dz; especially ruling out a malabsorption problem
54. Distinguish among constitutional short stature, genetic (familial) short stature, and growth hormone or thyroid deficiencies by growth chart evaluation
68. By definition they must have no evidence of an endocrine or systemic disorder and they must have a family h/o short stature
69. Normal weight and length at birth, dropping across curves over their first three years until they get to their genetically determined curve. They follow their own curve during prepubescent years. Puberty begins at a normal age and rate of progression is normal
90. Acquired is often idiopathic, but can come from tumors (esp craniopharyngioma, glioma, germinoma) and also head trauma, CNS infection or radiation, surgical damage to the pituitary or hypothalamus
125. Need to rule out estrogen excesses, either endogenous or exogenous
126. Management = thorough hx, note their growth velocity, tanner stage, skin exam to look for other signs of pubertal changes; bone age, check estrdiol and LH/FSH levels; need f/u exams q3months
127. If any of the above reveal abnorms then need to do an MRI of the head, pelvic U/C, GnRh stim test
129. Development of pubic hair, axillary hair, acne, body odor in a child younger than 8 (female) or 9 (male)
130. Should have no other virilization; i.e. for boys no changes in testicular size and for girls no clitormegaly, breast development or menses
131. Can be due to CNS insults, obesity, exposure to androgens
132. Management: make sure if any of the above are present and look at the growth velocity; check a DHEAS, androstenedione, testosterone, 17OHP, bone age; follow up every 4 months
133. If initial screens as above are abnorm then need adrenal/pelvic imaging and ACTH stim test
134. Know the pathophysiology and differentiating features of normal vs abnormal gynecomastia in males
145. Most are benign and represent normal physiologic changes of fibroadenomatous lesions; these can be monitored, will change with menses, wax/wane, etc
146. Mammography would rarely be indicated b/c the breast tissue of the adolescent is so dense that it will be difficult to interpret
147. Referral to a breast surgeon if the lesion is persistent, enlarging, atypical, or a source of anxiety; most masses can be monitored for at least 4-8 weeks, if it is cystlike then can follow clinically for about 3 months, if c/w a fibroadenoma then can follow for 6 months
156. Know that premature thelarche occurs without other signs of puberty, is most common among those 1-4 years of age and often regresses spontaneously
157. Recognize the importance of obtaining the h/o medication use, including phytoestrogens and estrogen based creams, when evaluating a child with premature breast development
158. Recognize the tumors that may produce precocious puberty (e.g. in the liver, CNS, ovary, testes, adrenal glands)
170. Absence of secondary sexual characterstics in a 13 year old female or a 14 year old male; or more than 5 years passing between onset of puberty and completion of puberty
214. On U/S of solid then need further workup, if solid and COLD on uptake scan then have a high likelihood of carcinoma and an excisional bx or FNA is needed
240. Use the TSH to tell you if you need to increase (high TSH) dose or decrease (low TSH) dose; however don’t use it alone and also check a FT4 according to PREP (they say never to use TSH alone to guide thyroxine dose changes)
241. Tidbit: if you get lab on a pt being txed with thyroxine (LT4) and the TSH is high and s if the FT4, it probably means they have issues managing their meds (missed doses and then took extra to “make up” for the missed doses); they can both remain high for up to 7 days
260. After delivery baby can have tachycardia, feeding probs, failure to gain weight, thyrotoxic stare, jitteriness, persistent jaundice
261. Findings might be delayed for several days after birth if baby was exposed to antithyroid meds in utero
262. The level of circulating TSI is what determines the baby’s chances of having neonatal hyperthyroidism
263. Babies who have had neonatal thyrotoxicosis might later develop a secondary hypothyroidism weeks to months after birth, they need to have their thyroid function monitored monthly for several months after delivery until the TSH normalizes and production of T4 resumes normally (TSH was shut down while in utero and takes a while to wake back up)
289. Progressive or central obesity, failure to grow taller, hirsutism, weakness, buffalo hump, acne, striae, and hyperpigemntation (if increased ACTH)
297. Know how to manage sick days in diabetic patients
298. By “sick days” they mean days when a patient diabetes is actually ill
299. Need to monitor their sugars more closely – they might need more insulin due to the stress, etc and subsequent increase in blood glucose; they might need less of they have poop o intake
300. Also important for them to check urine ketones about every 3-4 hours to prevent DKA from occurring when already ill
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