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    Endocrine Endocrine Document Transcript

      • Sex differentiation
      • Normal development
      • Ambiguous genitalia
      • Recognize the signs and symptoms of CAH
      • Females: ambiguous genitalia, usually identified at birth
      • Males: no marked effect on genitalia so might go undetected at birth
      • Salt losing form (“classic”): usually present in a crisis at about age 2 weeks (salt wasting and acute adrenal crisis)
      • 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
      • Know the lab evaluation of CAH
      • 21-OH deficient salt losers
      • elevated 17-OH progesterone
      • hypoNa, hyperK, hypoglycemia
      • elevated renin, low aldosterone
      • elevated androgens
      • 21-OH deficient non-salt losers
      • elevated 17-OH progesterone
      • elevated androgens
      • Know that CAH can be diagnosed prenatally
      • Measure the 17-OH progesterone in amniotic fluid
      • 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
      • 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)
      • Plan the treatment for adrenal crisis in a patient with CAH
      • Need aggressive fluid therapy
      • 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
      • Stress dose of hydrocortisone os considered 100mg/m2/day
      • Might need to treat life threatening hyperK
      • Understand the value of neonatal screening for salt-losing CAH in male infants with normal genitalia
      • 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
      • Tests for levels of 17-OH progesterone
      • Has a low specificity in exchange for very high sensitivity, and in fact about 98% false positive rate
      • 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
      • Understand that maternal exposure to androgens and progestins can cause virilization in female infants
      • Timing of the exposure affect the phenotype
      • Exposure prior to 8 weeks may cause labial fusion and clitoromegaly
      • Exposure after the first trimester can lead to clitoromegaly without the midline fusion
      • Growth
      • Short stature
      • Know the most common causes of short stature
      • 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.
      • Linear growth rates:
      • Ist year: 25 cm/year
      • 2nd year: 12 cm/year
      • 3rd year: 8 cm/year
      • After age 3 and until puberty: 4-7cm/year
      • 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)
      • Plan the evaluation of children whose height has decreased from the 20th to the 5th percentile
      • 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
      • 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)
      • If no known growth velocity then need to measure a second height in 3 to 6 months
      • Check for nutritional status
      • 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
      • 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
      • Understand that growth velocity may be decreased in children with chronic disease
      • Distinguish among constitutional short stature, genetic (familial) short stature, and growth hormone or thyroid deficiencies by growth chart evaluation
      • Constitutional short stature
      • Growth velocity slows during the first three years with both height and weight crossing growth percentiles downward
      • Normal or near normal GV, height is below but parallel to the 5th percentile during prepubertal years
      • Delayed bone age and pubertal maturation
      • Adult height usually in the normal range, but occasionally lower than expected for parental height
      • Familial short stature
      • Usually a normal weight and length at birth but then cross the linear growth percentiles downward during the first years after birth
      • They will reach their genetic appropriate linear growth percentile and stay on their own growth curve
      • Onset of puberty and its rate of progression are normal for chronologic age
      • Adult height is short, but appropriate for parental heights
      • GHD
      • Hypothyroid
      • Recognize the signs of familial short stature
      • By definition they must have no evidence of an endocrine or systemic disorder and they must have a family h/o short stature
      • 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
      • Bone age typically not delayed and is c/w chronologic age
      • Adult height is short, but in target height range based on parental heights
      • Know how to distinguish between familial short stature and other conditions
      • See above
      • Know the natural hx of familial short stature
      • See above
      • Know how to use lab tests to effectively to distinguish between constitutional growth delay and other conditions
      • Checking bone age will show a delayed bone age; plotting he height against their bone age usually “normalizes” them percentile wise
      • Know the natural h/o constitutional growth delay
      • Normal height and weight at birth, fall off growth curve at 18-24 months
      • Normal growth velocity along the 3-5%ile
      • Delayed bone and dental age
      • Onset of puberty will correlate with bone age
      • Usually have a family hx of same
      • Recognize the signs and sx of acquired and congenital growth hormone deficiency (e.g. micropenis)
      • Congenital: normal length/weight at birth
      • Microphallus due to IGF-1 deficiency
      • Direct hyperbilirubinemia
      • Hypoglycemia
      • Single central incisor
      • 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
      • Specific clinical features vary with the cause
      • Slow growth rate is often the prominent feature
      • Tall stature
      • Differentiate among the causes of short stature
      • Most common cause = tall parents or early maturation
      • Growth hormone excess, i.e. GH secreting tumor
      • Would see other effects of GH excess like large hands and feet, soft tissue thickening, widened spaces between the teeth
      • Sotos syndrome (cerebral gigantism)
      • Not an endo problem
      • Born at >90th %ile, hit the 97th until about age 4-5 and then slow down to a normal rate
      • Beckwith Wiedemann
      • Due to excessive IGF-1
      • Fetal overgrowth: macroglossia, HSM, nephromegaly, beta cell hyperplasia
      • Often develop early hypoglycemia
      • Monitor for Wilms and nephroblastoma every 3-6 months for the first 6years of life
      • Klinefelter
      • Marfan
      • Autosomal dominant
      • Tall, increased arm span, arachnodactyly
      • Heart problem = aortic dilatation
      • Eye problem = upward lens subluxation
      • Homocysteinuria
      • Autosomal recessive
      • Inborn error of AA metabolism
      • Phenotypically similar to Marfan, BUT
      • MR
      • Eye problem = downward lens subluxation
      • Puberty
      • Normal
      • Distinguish between the variations of normal (e.g thelarche, pubarche) and precocious puberty
      • Premature thelarche
      • Isolated breast development in females age 6-7 years
      • No other signs of puberty, bone age = height age
      • Should experience normal pubertal development and normal adult height attained
      • Need to rule out estrogen excesses, either endogenous or exogenous
      • 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
      • If any of the above reveal abnorms then need to do an MRI of the head, pelvic U/C, GnRh stim test
      • Premature adrenarche
      • Development of pubic hair, axillary hair, acne, body odor in a child younger than 8 (female) or 9 (male)
      • Should have no other virilization; i.e. for boys no changes in testicular size and for girls no clitormegaly, breast development or menses
      • Can be due to CNS insults, obesity, exposure to androgens
      • 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
      • If initial screens as above are abnorm then need adrenal/pelvic imaging and ACTH stim test
      • Know the pathophysiology and differentiating features of normal vs abnormal gynecomastia in males
      • Normal pubertal gynecomastia occurs in up to 2/3 of boys
      • Defined as <4cm tanner 2 breast; with tanner 2, 3 or 4 pubic hair
      • Will self-resolve, usually in 12-18 months
      • Macrogynecomastia is >4cm
      • Tanner stage 3, 4 or 5 breast
      • Does not self resolve and does need referral
      • Due to increased estrogen:testosterone ratio
      • Source might be from liver, kidney or thyroid disease, adrenal tumor, testicular tumor, anabolic steroids, HCG secreting tumor, increased aromatase activity (obesity)
      • If due to decreased testo level, might be due to gonadal failure, Klinefelter
      • Understand the significance of a breast mass in an adolescent girl
      • Most are benign and represent normal physiologic changes of fibroadenomatous lesions; these can be monitored, will change with menses, wax/wane, etc
      • Mammography would rarely be indicated b/c the breast tissue of the adolescent is so dense that it will be difficult to interpret
      • 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
      • Precocious puberty
      • Recognize the testosterone creams used by parents can cause virilization in male or female children
      • Recognize the si/sx of precocious puberty
      • In the female will have adrenal and gonadal changes
      • Only need gonadal changes in the male (any testicular size >3cc or 2.5 cm prior to age 9
      • Know the differential dx of precocious puberty
      • Brain tumor in 10% of the girls, 50% of the boys
      • Ectopic neural tissue (GnRH secretory hormones)
      • Know that premature thelarche occurs without other signs of puberty, is most common among those 1-4 years of age and often regresses spontaneously
      • Recognize the importance of obtaining the h/o medication use, including phytoestrogens and estrogen based creams, when evaluating a child with premature breast development
      • Recognize the tumors that may produce precocious puberty (e.g. in the liver, CNS, ovary, testes, adrenal glands)
      • Hypothalamic hamartomas are non-neoplastic, congenital malformations that contain GnRH secreting cells
      • Brain, liver and mediastinum tumors can produce hCG the hCG cross-binds with LH receptors and leads to progesterone or testosterone production
      • Tumors of the adrenal cortex or gonad can produce sex steroids autonomously
      • CAH and glucocorticoid resistance can raise ACTH-induced production of adrenocortical androgens
      • Know how to use laboratory tests effectively to distinguish the adrenal etiology of precocious puberty
      • DHEA-S provides an estimate of adrenocorticoid sex steroid hormone levels
      • Values elevated beyond that expected for the pubertal stage suggesting adrenal pathology
      • Biosynthetic defects of adrenocortical steroids are identified best by high concentrations of the substrate for the enzyme that is deficient
      • i.e. high levels of 17-OH progesterone on 21-OH hydroxylase deficiency
      • Delayed Puberty
      • Recognize the signs and symptoms of delayed puberty
      • 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
      • Differiential: hypergonadotrophic hypogonadism VS hypogonadotrophic hypogonadism
      • Hyper-hypo = high FSH/LH
      • Hypo-hypo = low FSH/LH
      • Recognize the signs and symptoms of gonadal dysgenesis (Turner syndrome)
      • 45 X,0 (50%); 15% are a mosaic, 45X,0/46 XX
      • SHORT STATUE is present in 100% of cases at presentation and is due to absence of SHOX gene
      • Web neck, wide nipples, cubitus valgus, short 4th metacarpal, low posterior hairline
      • Swollen hands and feet at birth with the classic phenotype
      • At age 3-5 years will have decreased growth velocity, short stature
      • Abnormal puberty
      • Cardiac lesions: bicuspid aortic valve and coarctation of aorta are
      • Need echo every 5-10 years
      • Renal lesions: horseshoe kidney, collecting system abnormalities
      • Know the lab evaluation of gonadal dysgenesis (Turner), including karyotype, and serum concentrations of LH, FSH and estradiol
      • LH and FSH will be high due to gonadal failure
      • Estradiol can be difficult to evaluate because if the child is in early puberty it will be low, like it would be if they had Turner
      • Need a karyotype
      • Need to check thyroid because they are at a higher risk of developing chronic lymphocytic thyroiditis
      • Understand the importance of evaluating for cardiac and renal disorders in goandal dysgenesis (Turner)
      • See above
      • Understand the familial influences in the onset of puberty
      • Know the natural h/o constitutional delayed puberty
      • Know when tx for constitutional delayed puberty is indicated and understand the therapeutic options
      • Thyroid disorders
      • Hashimoto thyroiditis (aka, autoimmune/lymphocytic thyroiditis)
      • Recognize the signs and symptoms of Hashimoto thyroiditis
      • Can occasionally cause transient hyperthyroidism early in the course (hashitoxicosis)
      • Then develops sx of hypothyroid
      • Decreased growth velocity, delayed puberty, cold intolerance, constipation, myxedematous facies, dry skin, brittle hair
      • On exam can feel a firm nontender diffuse goiter with a pebbly feeling
      • Know the lab studies that distinguish Hashimoto thyroiditis, other causes of thyroid enlargement, and hypothyroidism
      • Hashimoto is confirmed with checking antibodies: antithyroperoxidase, anti thyroglobulin, antimicrosomal
      • Depending on the stage of the disease may have labwork c/w hyper. Hypo or even euthyroid
      • Know that Hashimoto thyroiditis is the most common cause of goiter in adolescents
      • Know that Hashimoto thyroiditis may be associated with other autoimmune disorders
      • Cyst, tumor, nodule
      • Recognize the si/sx of a thyroid cyst/tumor
      • A palpable mass in the thyroid
      • May have si/sx of thyrotoxicosis
      • May have local LN spread, which raises concern for malignancy
      • Understand the importance of referral in a child with a thyroid mass/nodule
      • “all children who have a discrete thyroid mass should be referred to n endocrinologist.”
      • Any solitary, firm, hard, painless nodule should be further examined
      • 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
      • Note that for boards apparently the answer is FNA
      • Know the significance of previous irradiation to the head and neck in a patient with a thyroid mass/nodule
      • Increases chance of malignancy
      • Know that a solitary nodule may be a sign of thyroid cancer
      • See above
      • Other signs that raise likelihood of being cancerous:
      • More common in males
      • Fixed to underlying tissues
      • Firm and irregular in outline
      • Firm cervical LAD on the same side
      • Hypothyroidism
      • Know the consequences of untreated hypothyroidism in the neonate
      • Decreased IQ, clumsiness, decreased fine motor skills; neurosensory hearing deficit
      • Recognize the si/sx of congenital and acquired hypothyroidism
      • Congenital:
      • Early signs: large posterior fontanelle, prolonged jaundice, macroglossia, hoars cry, distended abd, hypotonia
      • Delayed signs: Feeding problems, hoarse cry, dry skin, decreased growth of nails and hair, delayed closure of fontanelles, delayed tooth eruption, protuberant abd, puffy face, large protruding tongue, hypotonia, cardiomegaly
      • Acquired – see above under Hashimoto
      • Know the various causes of congenital and acquired hypothyroidism
      • Congenital: in the US the most common cause is thyroid dysgenesis
      • Can also be caused by thyroid dyshormonogenesis, hypothalamic-pituitary hypothyroidism, transient hypothyroidism
      • Acquired: in the US the most common is Hashimoto
      • Can also be due to subacute thyroiditis, central hypothyroidism
      • Know how to manage and treat congenital and acquired hypothyroidism and the use of thyroid stimulating hormone to guide treatment
      • Both need LT4
      • 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)
      • 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
      • Know how to recognize TBG deficiency
      • Low total T4, normal FT4, normal TSH
      • Hyperthyroidism
      • Recognize the signs and sx of hyperthyroidism
      • Thyromegaly, possibly a thyroid bruit; prominent eyes with exopthalmos or proptosis
      • Tachycardia, widened pulse pressure, systolic htn, tremor, muscle weakness, anxiety, palpitations, heat intolerance
      • Think of it in cases of persistemt htn, tachycardia, hyperdynamic circulation
      • Know how to use hx, physical exam and lab tests to effectively dx hyperthyroidism
      • Most common cause is Graves and is dxed with a positive TSI (thyroid stimulating immunoglobulin)
      • h/o weight loss despite increased appetite, heat intolerance, excessive sweating, diarrhea, emotional disturbances, poor school performance
      • exam would show findings as above
      • be aware of various modalities of tx for hyperthyroidism
      • drugs: methimazole, PTU; give propanolol for sx tx
      • safe during preg = PTU
      • surgery: thyroidectomy (might need thyroid replacement after)
      • radioactive ablation: I131 (need thyroid replacement after)
      • Recognize the si/sx of neonatal hyperthyroidism
      • IUGR, microcephaly, increased HR can be manifestations in utero
      • After delivery baby can have tachycardia, feeding probs, failure to gain weight, thyrotoxic stare, jitteriness, persistent jaundice
      • Findings might be delayed for several days after birth if baby was exposed to antithyroid meds in utero
      • The level of circulating TSI is what determines the baby’s chances of having neonatal hyperthyroidism
      • 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)
      • Parathyroid disorders
      • Recognize the typical lab findings associated with hypoparathyroidism
      • True hypoparathyroidism will have low PTH and low Ca with high PO4
      • Pseudohypoparathyroidism will have normal to high PTH levels but still the low ca and high PTH
      • Know that DiGeorge syndomre (22q-) can be a cause of hypoparathyroidism
      • noted
      • Adrenal gland disorders
      • General
      • Be aware of adrenoleukodystrophy
      • It is a syndrome of adrenal cortex deficiency with demyelination of the CNS
      • Vey high levels of very long chain fatty acids on body tissues and fluids
      • Degenerative neurologic d/o with onset in childhood or adolescence, confirm the dx with checking a VLCFA level
      • Can have milder forms, bit classic form leads to ongoing dterioration of CNS and then death
      • Addision Dz
      • Recognize the si/sx of Addision dz
      • Hyperpigmentation, salt craving, postural hypotension, fasting hypoglycemia, anorexia, weakness, episodes of shock during severe illness
      • Know how to use tests effectively for the dx of Addison dz
      • Baseline and ACTH-stimulated cortisol levels are subnormal which confirms the dx
      • Hyponatremia, hyperK and elevated plasma rennin activity indicate a mineralocorticoid deficiency
      • Recognize that Addision dz is usually an automiinue d/o
      • noted
      • Recognize the si/sx of adrenal insufficiency after d/c of exogenous corticosteroid tx
      • Basically the same as for Addison dz
      • Cushing syndrome
      • Recognize the si/sx of Cushing syndrome
      • Progressive or central obesity, failure to grow taller, hirsutism, weakness, buffalo hump, acne, striae, and hyperpigemntation (if increased ACTH)
      • Pituitary gland disorders
      • Diabetes
      • General most of these should be second nature ; a couple were not really clear so there is more info below
      • Recognize the si/sx of DM1
      • Know how to treat DM1 effectively to achieve good control: insulin, diet, exercise and psychologic acceptance of the disease
      • Know the value of A1C in managing DM1
      • Know the natural h/o DM1 (ie. “honeymoon” period)
      • Know how to manage sick days in diabetic patients
      • By “sick days” they mean days when a patient diabetes is actually ill
      • 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
      • Also important for them to check urine ketones about every 3-4 hours to prevent DKA from occurring when already ill
      • Should be in close contact with their DM team
      • Know long term complications of DM1
      • Know the importance of blood glucose control in prevention of long-term side complications of DM1
      • Recognize the association between DM1 and other autoimmune d/os including celiac dz
      • DKA
      • Know the complications of DM1, particularly DKA and its pathophysiology, tx, complications
      • Recognize cerebral edema as a complication of the tx of DKA
      • Understand the risks of using bicarb in DKA
      • Know that non-compliance is a major cause of recurrent DKA
      • DM2
      • Understand the difference between type 1 and type 2 DM
      • Boards wants you to use autoantibodies to distinguish DM1 and DM2
      • Know that acanthosis is a marker for insulin resistance
      • Formulate the treatment approaches to DM2
      • plan the appropriate screening tests for DM2
      • Metabolic syndrome
      • Plan the appropriate screening tests for metabolic syndrome
      • Identify risk factors that necessitate tests for metabolic syndrome
      • Plan the appropriate initial management of a patient with Metabolic syndrome, including lfiestyle modification with diet and physical activity
      • Recognize the adverse conditions associated with metabolic syndrome
      • Disorders of PTH, calcium. And phosphate metabolism
      • Hypocalcemia
      • Know the causes of hypoCa in a neonate
      • Know that hypoCa with HypoPhos suggests vit D deficiency
      • HyperCa
      • Recognize the si/sx of hyperca
      • Recognize the possibility of hyperca and its complications following prolonged immobilization
      • Hypophosphatemia
      • Recognize the typical clinical and lab findings associated with familial hypophosphatemic rickets
      • Plan the treatment of a child with hypophos rickets