Endocrinology Flashcards
Positive Anti TPO and Anti Thyroglobulin ABs (attacking and killing the gland)
Hashimoto’s Thyroiditis
Delayed relaxation phase of DTRs
Hypothyroidism
Positive TSH receptor antibodies (attacking and stimulating the gland)
Graves Hyperthyroidism
Sleep issues and poor school performance (ADHD like symptoms)
Graves disease
Can’t produce DHT from Testosterone which leads to undervirilized male
5 Alpha Reductase Deficiency
Caused by enzymatic block in cortisol production
CAH
Most common enzymatic block in CAH
21 Hydroxylase Deficiency
Builds up in 11-Beta Hydroxylase deficiency
11-Desoxycortisol (DOC)
Causes hypertension in 11-Beta Hydroxylase deficiency
Build up of 11-Desoxycortisol
Excess of glucocorticoids
Cushing Syndrome
Big tongue, umbilical hernia, hypoglycemia
Beckwith Wiedemann
Four hormones that bring blood glucose up
- Epinephrine
- Glucagon
- Cortisol
- Growth Hormone
Increases calcium and decreases phosphorus
PTH
Increases absorption of both calcium and phosphorus. Decreases PTH
Vitamin D
Causes hypoparathyroidism
DiGeorge Syndrome
Pseudo hypoparathyroidism
Albrights Hereditary Osteodystrophy
Steroid hormones characterized by their influence on salt and water balances (e.g. Aldosterone)
Mineralcorticoids
Class of steroid hormones known for their role in the regulation of the metabolism of glucose and its synthesis in the adrenal cortex. (e.g. cortisol, hydrocortisone)
Glucocorticoid
Stones, bones (pain), groans (abd ulcers, nausea), and psychiatric moans
Symptoms of hypercalcemia
Work up for suspected growth hormone deficiency
1) Obtain bone age of hand/wrists
2) Check insulin like growth factors
Pseudo tumor cerebri, scoliosis, and SCFE are side effects of what tx?
Growth hormone
This syndrome is different that Turners syndrome in that:
1) Can affect boys and girls
2) Cardiac lesions are right sided
3) No renal defects
4) Infertility is less likely
Noonan Syndrome
Syndrome characterized by:
1) SGA
2) Limb asymmetry
3) Triangular head
4) Cryptorchidism
5) No catch up growth
Russell Silver Syndrome
First sign of puberty in girls
Thelarche (breast development). Boobs before pubs
Average age of menarche
12.4 years
First sign of puberty in boys
Testicular enlargement to 4 ccs
Boy with central precocious puberty
Think brain tumor
Cafe-au-lait, fibrous dysphasia, & precocious puberty
McCune Albright Syndrome
Hypogonadotropic hypogonadism + anosmia
Kallmann syndrome
A child within first month of life with low blood glucose and bouncy eyes (nystagmus)
Consider septo optic dysplasia
Syndrome with:
1) FTT in infancy then hyperphagia
2) Hypotonia
3) Hypogonadism
4) Obesity
5) Developmental delay
6) Behavioral disorder
Prader Willi Syndrome
47XXY
Klinefelter Syndrome
Which type of diabetes is more genetically linked?
Type 2
From the DCCT trial, were retinopathy, nephropathy, neuropathy, macroangiopathic events, and LDL increased, decreased, or the same with intensive vs. conventional therapy?
All were decreased in incidence
Drives glucose and K into cells
Insulin. (Put the K back into DKA by giving DKAers K)
Hypoglycemia leading to rebound hyperglycemia
Somogyi Phenomenon
Tx for Somogyi Phenomenon
Decrease nighttime long acting insulin
Hyperglycemia due to early AM growth growth hormone release
Dawn Phenomenon
Tx for Dawn Phenomenon?
Increase nighttime long acting insulin
Humalog (lispro) and Novolog (aspart)
Rapid acting insulin
NPH
Intermediate acting insulin
Lantus (Glargine) and Detemir
Long acting (basal) insulin
Insulin dosing for boards a split mixed dosing of 2 shots per day with combo of short and long acting insulin
2/3 daily dose in AM, 1/3 in PM
Each individual dose with 2/3 long acting and 1/3 short acting
How many hours a day of screen time can a child have?
2 hours
If obese at age six, what percentage chance do u have of being obese as an adult? What if obese at age 12?
25%. 75% chance at age 12
Most common complication of obesity
Low self esteem
Direct insulin action on the keratin layers of your skin from hyperinsulinemia
Acanthosis Nigricans
Single central tooth
Congenital hypopituitarism (growth hormone deficiency). If combined with optic nerve hypoplasia it is called septoptodysplasia
Micropenis
Congenital hypopituitarism (growth hormone deficiency)
Syndrome with:
1) obesity
2) round face with short neck
3) delayed dental eruption
4) short 4th metacarpal
5) hypocalcemia and hyperphosphatemia
Albright Hereditary Osteodystrophy
(Pseudo hypoparathyroidism)
Syndrome with:
1) obesity
2) mental deficiency
3) retinal dystrophy
4) poly, syn, or brachydactyly
5) broad short feet
6) abnormal kidneys
7) small penis/testes
8) AR
Bardet-Biedl Syndrome
Brush field spots
Down Syndrome
Buffalo hump
Cushing syndrome
To distinguish between type 1 and type 2 DM
Check antibodies (islet, insulin, GAD)…more prevalent in type 1
HLA-DR3, HLA-DR4, HLA-DQ
Strong association with type 1 DM
HTN, obesity, elevated lipids
Metabolic syndrome
Develops 6-12 hrs after initiation of tx for DKA
Cerebral edema
The more severe and prolonged the presentation of DKA, the more likely they will get this complication
Cerebral edema
The presence of acidosis in DKA is the absence of
Insulin
Low c peptide, high insulin
Exogenous insulin
Testes greater than 3 cc or 2.5 cm in length
Puberty in boys
Peak growth velocity on boys
Tanner 4
Time between Tanner 2 and Tanner 5 in boys
2.5 years to 5 years
Menarche occurs how long after breast development starts
2.5 to 3 years
Peak growth velocity in girls
Tanner 3-4
Menarche occurs at this tanner stage
Tanner 4 breasts. 12.8 yrs is avg age
At menses, this percentage of growth is complete
90%. Will grow another 3 inches on avg
Mean duration of puberty in girls
4.2 yrs
The most common type of tumor to cause precocious puberty
Hypothalamic hamartoma
Nothing by 13 in girl, 14 in boy
Delayed puberty
Like to set fires, seminiferous tubule dysgenesis, small testes, low IQ, gynecomastia and breast cancer risk
Klinefelters
Male or female, webbed neck, pulmonary valve stenosis, short, pectus excavatum, increased risk of AML/CML, cubitus valgus, MR
Noonan
Obesity, polydactyly, MR, hypogonadism
Laurence Moon Biedl/ Bardet-Biedl syndrome
Hypogonadotropic hypogonadism, anosmia
Kallman Syndrome
Hypotonia at birth, obesity, hyperphagia, MR, hypogonadism, deletion q11-13 on chromosome 15, small hands and feet
Prader Willi
Absence of septum pellucidum, optic disease, pituitary disease
Septooptic dysplasia
Swollen hands and feet at birth
Turner’s Syndrome
Karyotype with Y chromosome in Turner syndrome
Increased risk of gonadoblastoma. Remove streak gonads
Absence of SHOX gene
Turner Syndrome
Web neck, wide spaced nipples, short 4th metacarpal, math and problem solving difficulties
Turner Syndrome
Androgens are normal in:
1) Klinefleter’s
2) Turner’s
Single central incisor
Growth hormone deficiency
PTH resistance with high PTH but low calcium and high phos
Pseudohypoparathyroidism
Short stature, stocky build, round face, short fingers
Pseudohypoparathyroidism
Short stature, frontal bossing, triangular face, shortened incurved 5th metacarpal
Russell Silver Syndrome
Normal length/weight at birth, microphallus, direct hyperbili, hypoglycemia
Growth hormone deficiency
Responsible for growth in neonate
IGF 1. Growth hormone regulates glucose control in neonate, not growth
Body makes adequate ADH but kidney does not recognize or respond to it
Nephrogenic DI
Acquired causes of Nephrogenic DI
Lithium
Sickle cell anemia
Hyponatremia, low serum osoms, high urine osmolality, euvolemic
SIADH
Hypernatrmic, hyperosmolar serum, hypo osmotic dilute urine
DI
Respond to DDAVP (desmopressin)
Central DI.
Failure to Respond to DDAVP (desmopressin)
Nephrogenic DI
High atrialnatriuretic peptide, excessive urine output, hypovolemic, hyponatremia, high urine sodium, low vasopressin
Cerebral Salt Wasting
Increases your thyroid binding globulin (and therefore total T4)
OCPs
Positive thyroid receptor stimulating immunoglobulin
Graves’ disease
Check TSI in which thyroid state
Hyperthyroid
Patient with low total T4 (fails newborn screen). Found to have normal FT4 and normal TSH
Thyroid binding globulin deficiency
Teenage female with elevated total T4, normal FT4, normal TSH
On OCPs or pregnant (elevated estrogen increases TBG)
Chronic lymphocytic thyroditis
Hasimoto’s Thyroditis
Most common cause of goiter in patient older than 6
Hashimoto’s
Tx for hyperthyroid kids
Propranolol and methimazole
Tx for euthyroid Hashimoto’s
Monitor labs q 6 months as many will convert to hypothyroid
Most common side effect of medical tx for Graves
Rash and transient granulocytopenia
Most serious side effect of medical tx of Graves
Agranulocytosis
Correlates with risk and severity of neonatal thryotoxicosis
Maternal TSI antibody levels
PTH is normal in
Hypophosphatemic Ricketts (losing phos in kidneys. PTH responds to calcium level, not phos level.)
Low calcium, low phosphorus
Vitamin D deficienct
High calcium, high phos
Too much vitamin D
Calcium high, phos low
Hyperparathyroidism
Calcium low, phos high
Hypoparathyroidism
Midline cyst moves with swallowing
Thyroglossal duct cyst. TFTs unnecessary. May need scan prior to surgical removal to see if only active thyroid tissue
Common cause of female pseudohermaphroditism
CAH, adrenal tumor, DANAZOL (androgen used to treat endometriosis)
Result when mom exposed to androgens in 13-18 week gestation
Labial fusion
Result when mom exposed to androgens after 18 week gestation
Clitoral enlargement
Result when mom exposed to androgens from 13 week gestation until birth
Labial fusion plus clitoral enlargement
Total deficiency of testosterone function, ambiguous genitalia, renal failure at age 3, Wilms tumor
Denys Drash Syndrome
Wilms tumor, aniridia, GU abnormalities, MR
WAGR Syndrome
XY, mutation in SRY gene, gonads are undifferentiated streaks- increased risk of gonadoblastoma, testosterone levels are low, female phenotype with no breasts or menses
Swyer Syndrome
Cryptorchidism, discover uterus and Fallopian tubes on surgical repair
Persistent Mullerian Duct Syndrome (don’t have Mullerian inhibiting factor from Sertoli cells). Leading cells function normally so normal testosterone levels
Blind vaginal pouch, female external genitalia, no uterus (Sertoli cells work), intraabdominal testes, primary amenorrhea, elevated testosterone levels
Androgen insensitivity
Early morning cortisol concentration less than 5
Adrenal insufficiency
HgB A1c level of what = dx of diabetes
6.5%. Prediabetes = 5.7%