Endocrine Flashcards
Diagnosis for a thyroid nodule and associated cervical lymphadenopathy
FNA
Thyroid nodules 1 cm or greater, or 0.5 cm or greater if other risk factors for malignancy are present, should be evaluated by ultrasonography-guided fine-needle aspiration.
Papillary thyroid carcinoma is the most common thyroid cancer type in both children and adults.
Follicular thyroid carcinoma and medullary thyroid carcinoma are rare in pediatric patients.
Medullary thyroid carcinoma has 100% penetrance in those with multiple endocrine neoplasia (MEN) types 2A and 2B, which are inherited in an autosomal dominant pattern. Pheochromocytoma and hyperparathyroidism are other components of MEN, in addition to a Marfanoid body habitus and mucosal neuromas in type 2B.
T2DM screening
Only check HbA1C q2-3months
Screening at diagnosis:
- BP, lipid panel
- dilated eye exam for retinopathy
- foot exam for neuropathy
- spot urine alb/creatinine
VS T1DM (don’t need to screen at onset given prolonged exposure to hyperglycemia required for development of complications)
- retinopathy when > 10yrs and 3-5 yrs of diabetse
- albuminuria at least 5 yrs of diabetes
- TSH and celiac for autoimmune diseases (not in T2DM)
If you see a kid with mod persistent asthma and allergic rhinitis, who has weight gain but decreasing height percentile - what is it due to?
Exogenous steroid exposure leading to Cushing’s
- height % decreases but weight increases
- other sx: round face, facial plethora, violaceous abdominal striae, hypertension, easy bruising, and proximal muscle weakness.
VS: growth failure from CF, GI, malnutrition, uncontrolled asthma would affect weight rather than height.
Congenital Hypopituitarism
Hypoglycemia
Neonatal cholestasis - direct hyperbili, cholestatic jaundice, neonatal hepatitis
Small penis/Cryptochoridism
Hyponatremia due to central adrenal insufficiency, or hypernatremia if diabetes insipidus is present
Relative hypothyroidism - low T4 but low/normal TSH
Precocious Puberty - how to distinguish central vs peripheral
Before age 8 in girls. Before age 9 in boys.
Testes is an important discriminator in boys.
Central Precocious Puberty
- activation of hypothalamic-pit-gonadal axis -> more LH
- increase in size of the testes or ovaries to pubertal volumes (testes >/= 4mL)
- pubertal LH level >/= 0.3 IU/L
- high testosterone
definitely needs MRI of brain
NS neoplasms such as hypothalamic hamartomas and optic gliomas can cause central precocious puberty. Optic gliomas can be associated with neurofibromatosis type 1.
Peripheral Precocious Puberty
- Adrenal gland**
- DHEA-S is a marker of adrenal androgen production
- testes would be PREPUBERTAL - hCG secreting tumor
- stimulates the LH receptor on the testes.
- testes would be pubertal in size - Long standing hypothyroidsim
- bc TSH looks like LH and FSH
- would have hypothyroid symptoms
- testes would be PREPUBERTAL - McCune Albright or NF1
- cafe au lait spots - Testicular tumor
Thyroxine Binding Globulin Deficiency
Newborn screen abnl - nl TSH, low serum total T4
Rpt test - nl TSH, nl free T4
= TBG deficiency
X-linked
No need for thyroid replacement. Since free T4 is nl.
Hypoglycemia Labs
“Critical sample” = glucose, insulin, C-peptide, GH, cortisol, ketones
Hyperinsulinism = high insulin, low ketones
- can be exo or endogenous
Ketotic aka starvation = low insulin, high ketones
- give carbs
Hypopit = low cortisol, GH
Turner Syndrome
45XO
Prenatal: lymphedema, ascites, edema of the hands/feet
Appearance: neck webbing wide spaced nipples dysplastic nails high arched palate with micrognathia low posterior hairline low set ears
Sensorineural hearing loss
Bones: shortening of metacarpal/tarsal bones, scoliosis, kyphosis
Cardiac: Bicupsid Aortic Valves and CoArc (L-sided lesions)
Renal: Horseshoe kidney, etc
Growth failure: SGA, short stature = BUT IT’S NOT GH deficiency
Autoimmune diseases: Celiac, thyroid
Gonadal dysgenesis “streak ovaries”
- no breast development, amenorrhea
Tx:
- GH when growth declines. Discontinued when BA > 15 or growth velocity < 2cm/year
- Hormone replacement ~12 yrs
Thyroglossal Duct Cyst
Cystic structure, midline at level of thyroid gland, near hyoid bone.
Moves UP with swallowing or tongue protrusion.
50-60% may have ectopic thyroid gland
DDX:
dermoid, epidermal cyst = skin tissue, do not move with swallowing
branchial cleft cyst = more lateral usually, may have external pores/openings/fistulas where mucus drains (unlike thyroglossal duct cysts)
Kallman Syndrome
No GnRH expressing neurons in hypothalamus and lack of olfactory axons
- Hypogonadotropic Hypogonadism (no GnRH)
prepubertal testes < 4 mL and lack of pubertal effects
low FSH LH, testos - Anosmia
- Midfacial defects = cleft palate
- red-green color blindness
- “mirror movements” involuntary movements mirroring contralateral voluntary hand movement
- congenital heart disease
- renal agenesis or urogenital tract abnormalities
- Long ass arms and legs
- MRI is normal
X-linked, AD, AR
Solitary Median Maxillary Central Incisor = risk for
Growth hormone deficiency*
Empty sella and hypopit
Also other midline defects like cleft palate, CHARGE and VACTERL
Risk of SCFE in what endocrine disorder
Hypothyroidism - low TSH*
Low GH as well
Down’s Syndrome
Beckwith Wiedemann
Genotypic abnl of chr 11p15.5 = abnormalities in the methylation of the genes on chromosome 11 that undergo genomic imprinting.
Excessive Growth: Macroglossia Hemihypertrophy Hepatosplenomegaly Nephromegaly
- Abd wall defects = omphalocele, umb hernia
- Hypertrophy of pancreatic b-cell = hyperinsulinemia and hypoglycemia
- Onc: Risk of WIlm’s and hepatoblastoma
- Kidney: risk of nephrocalcinosis or sponge kidney
Diabetes Labs Confirmations
1 .HbA1c ≥ 6.5% (using a method that is certified and standardized)
- Fasting plasma glucose > 126 mg/dL (Fasting is defined as no caloric intake for at least 8 hours.)
- 2-hour plasma glucose > 200 mg/dL during oral glucose tolerance test (OGTT; glucose load of 75 g anhydrous glucose dissolved in water or 1.75 g/kg of body weight if weight is <18 kg).
- Random plasma glucose > 200 mg/dL with symptoms of diabetes, including polyuria, polydipsia, or polyphagia.
Karyotype and disease for pt who presents with webbed neck, short stature, pulm valvular stenosis, cubitus valgus
Noonans! Normal Karyotype normal, but with gene mutation on chr 12
- Can be in males or females.
- R-sided cardiac lesions (Vs. L sided in Turner)
- Intellectual disability (Vs. normal intellect or like poor math in Turner)
- Phenotypic findings same as turner
- Puberty findings also similar: Delayed sexual maturation, primary ovarian insufficiency, cryptorchidism
Septo-optic Dysplasia
- hypoplasia of optic nerve = nystagmus, or eye stuff
- pituitary deficiency = can be isolated GH or panhypopit
(red flags are “micropenis” and direct hyperbilirubinemia (unknown connnection, poor feeding, lethargy) - may have developmental delay
Evaluation of Hypocalcemia
Early onset = prior to 72 hours
- IDM, IUGR, sepsis, Birth asphyxia
Late onset = after 72 hours
- Hypoparathyroidism like from DiGeorge
Primary Adrenal Insufficiency = Addisons
- most common cause is autoimmune destruction of the adrenal glands (21-OH antibody)
- generalized hyperpigmentation due to excess ACTH and it’s byproducts during production
- general sx: fatigue, malaise, weight loss, n/v, hypotension
Cortisol deficiency
- HYPOglycemia, decreased CO and vascular tone, Hypotension
- weight losss
Aldosterone deficiency
- hypovolemia, HYPONA, HYPERK
symptoms then cause
- metabolic acidosis and ketosis (anorexia, n, v)
Tx:
Crisis: fluids + IV hydrocortisone
Outpt: glucocorticoids, fludrocortisone
McCune-Albright
- cafe au lait “coast of maine”
- precocious puberty
leading to enlarged ovaries and cysts
vaginal bleeding bleeding can occur at any time!*
low FSH and LH, no response to GnRH* - fibrous dysplasia (radiolucent regions of immature woven bone that do not differentiate into lamellar bone)
- autonomous endocrine hyperfunction
MAS is due to missense mutation in gene that codes for protein that triggers cAMP formation. SO any receptors that operate with cAMP can be affected, aka TSH, LH, FHS, GHRH, ACTH.
WAGR
Wilms tumor
Aniridia
Genitourinary malformations
Reduced intellectual disability
Follicular Ovarian Cyst is increased with
Smoking!
OCPS decrease risk of cysts.
Growth Hormone Therapy is approved for
- Turner, Noonan
- CKD before transplant
- SGA with lack of catch up growth (not achieve a height at least 2 SD below the mean by 2 years of age)
- Prader-Willi ***
- SHOX haploinsufficiency
- severe idiopathic short stature (<2.25 SD below the mean who are unlikely to catch up)
Evaluation of premature Thelarche
- isolated breast development
- usually within first 2 years of life
Eval: BA - within 2 SD of CA FSH/LH - prepubertal estradiol levels < 10 GnRH stim test = FSH predominant (prepubertal)
Follow q3-4 mo and reassure
T1DM sick day regime
- Increase frequency of blood sugar checks and check for ketones with hyperglycemia
- Increased sugar-free fluid intake—at least 8 ounces/hour.
- Increased insulin to control blood glucose.
- Carbohydrate needs—15 gm/hour—can be given in the form of sugar-containing fluids.
- If emesis and PO intolerance develops, the patient should be evaluated for acidosis = emergency department visit!
X-linked adrenoleukodystrophy
Peroxisomal disorder of beta-oxidation
leading to accumulation of Very long chain fatty acids in
1. white matter - leading to demyelination
2 adrenal cortex - adrenal cortical insufficiency
X-linked, peak is 7 yrs.
Progression of disease:
- ADHD, difficulty concentrating, learning disabilities
- gait disturbance, visual deficits, seizures
- vegetative state within 2-3 yrs
Frequent episodes of hypoglycemia in a patient with T1DM w/ no insulin dosing errors or increased physical activity most likely due to…
Celiac disease
- other signs “stomach aches” or lack of weight gain
Screen for celiac disease and hypothyroidism at T1DM time of diagnosis.
GH deficiency
In the first 1–2 years of life, growth hormone is less necessary for normal growth, and thyroid hormone and normal nutrition are more important for growth, which is why growth hormone deficiency often does not present in the newborn period.
If growth hormone deficiency does present in the newborn period, it is typically as a “red flag”
Classic Triad: Micropenis, Short stature, Hypoglycemia
Down’s syndrome and hypothyroidism
Children with trisomy 21 are at increased risk for both congenital hypothyroidism and acquired autoimmune hypothyroidism (Hashimoto thyroiditis).
Therefore, thyroid screening tests are recommended at birth, 6 months, 12 months, and annually thereafter.
Thyroid ultrasonography is not routinely recommended in the evaluation of Hashimoto thyroiditis or simple goiter.
Klinefelters
47XXY
tall stature with disproportionately long legs
hypergonadotropic hypogonadism with small firm testes and delayed puberty (low testos, high FSH LH)
gynecomastia
language delay
Other causes of tall stature:
- Marfan’s - aortic dissection, sudden death, long arms (arm span is greater than height), legs, and fingers (arachnodactyly), as well as other skeletal abnormalities (eg, scoliosis, pectus abnormality, crowded teeth), hyperflexibility, striae, and eye abnormalities (eg, myopia, dislocated lens)
- Soto’s - large head circumference and cognitive deficits
Delayed Puberty DDx
Puberty is considered delayed if there is no breast development prior to age 13 years in girls or if there is a lack of testicular growth to at least 4 mL in volume or 2.5 cm in length prior to age 14 years in boys.
Major categories of delayed puberty include constitutional delay, functional hypogonadism, hypogonadotropic hypogonadism (Kallman), and hypergonadotropic hypogonadism (Klinefelters, Turners)
Gonadotropin (luteinizing hormone, follicle-stimulating hormone) levels are important for narrowing the differential diagnosis of delayed puberty.
If pt presents with premature adrenarche symptoms (without evidence of puberty), what labs do you need to get to rule out more serious disease?
Rule out congenital adrenal hyperplasia/tumors
Testosterone, DHEA androstenedione, 17OHP, bone age
What OCP with PCOS?
Drospirenone has the lowest androgenic activity of the progestins listed and is preferred in this patient.
Combination oral contraceptive pills are often the 1st line treatment for adolescents with PCOS, menstrual irregularity, and cutaneous signs of androgen excess (acne, acanthosis nigricans). Progestin inhibits endometrial proliferation. Estrogen inhibits the hypothalamic-pituitary-gonadal axis. This reduces production of ovarian androgens and increases serum testosterone binding protein, leading to a decrease in free testosterone levels. Drospirenone is an analogue of spironolactone with weak antiandrogenic and antimineralocorticoid properties that may therefore improve hirsutism, weight control, and menstrual irregularities. It is available as Yaz (combined with 20 mcg of ethinyl estradiol) and Yasmin (combined with 30 mcg of ethinyl estradiol).
SMR stages
Breast
SMR 1: No breast development
SMR 2: Breast and papilla elevated as a small mound isolated to the areola
SMR 3: Breast and papilla with a slightly larger mound beyond the areola with a smooth contour
SMR 4: Areola and papilla form a separate mound above the breast (mound-on-mound appearance)
SMR 5: Mature stage, projection of the papilla only with overall smooth contour of breast, glandular breast tissue extends to the axillae.
SMR staging for pubic hair development includes the following:
Pubic Hair
SMR 1: No pubic hair development
SMR 2: Sparse growth of long, pigmented hair limited to the labia majora
SMR 3: Darkly pigmented, slightly curly hair on the labia and spreading to the mons pubis
SMR 4: Hair adult in type and shape, but covering a smaller area, not on medial thigh
SMR 5: Mature stage with pubic hair covering genitalia and spread to medial thigh, horizontal “female” distribution
Laurence–Moon–Bardet–Biedl
retinitis pigmentosa, obesity, developmental disabilities, polydactyly, genital hypoplasia, and hypogonadism (both hyper- and hypogonadotropic hypogonadism).
T2DM management
Insulin therapy is indicated for the child or adolescent with newly diagnosed type 2 diabetes if the presenting glucose is greater than 250 mg/dL or the hemoglobin A1c is greater than 9%.
Transition to oral metformin may be possible after achievement of initial blood sugar control, but would not be appropriate as the primary initial therapy in this case.
Congenital Hypothyroidism
When thyroid stimulating hormone (TSH) is greater than 40 mIU/L on filter paper newborn screening, confirmatory venous TSH and free thyroxine should be drawn and levothyroxine started immediately without waiting for the confirmatory test results.
Timely treatment of congenital hypothyroidism is essential to prevent cognitive impairment.
Levothyroxine should be initiated by 2 weeks of age at a starting dose of 10 to 15 μg/kg per day.
Most infants with congenital hypothyroidism are asymptomatic.
ENDO Review
2017: 5, 8, 10
2018: 4, 8
2019: 10
Decreased linear growth after cranial irradiation
GH deficiency.
