Peds - Lecture 15 (Endocrine and Nephrology/Urology

What is the most common diabetes seen in childhood? When is it seen?

T1DM

peak at 4-6 years, and second in early puberty (10-14)

What is the clinical presentation of T1DM?

polyuria/polydipsia and WL

Diabetic Ketoacidosis (DKA) - polyuria, polydipsia, N/V, abdominal pain, fruity odor, kussmaul repirations, AMS --> coma

How do you diagnose T1DM?

fasting glucose ≥ 126 mg/dL

random glucose ≥ 200 mg/dL w/ sx

glucose ≥ mg/dL 2 hours after OGTT

A1c ≥ 6.5%

*prob more tests to be specific for T1DM but this is what is highlighted on her slide

Who should you send patients with T1DM/T2DM to?

peds endocrine

What is the goal with treatment of T1DM?

maintain glucose levels close to normal, A1c < 7% (check every 3 mo)

How do you treatment T1DM?

insulin! fasting and basal

*check glucose prior to meals and at bedtime, if sick or glucose > 300 --> check ketones

What are some complications seen with T1DM?

hypothyroidism - check TSH at dx and every 1-2 years or if sx

celiac disease - tTG, IgA at time of dx - repeat at 2 years, then 5 years after dx

What population is at higher risk of developing complications from T1DM?

adolescents (12-15 years) d/t high risk of noncompliance

What is T2DM?

failure of pancreas to maintain adequate insulin secretion

What is the CP of T2DM?

polyuria, polydipsia, WL, can still have DKA

acanthosis nigricans - insulin resistance

What is the tx of T2DM?

*managed by peds endocrine

medical, nutritional, psychosocial issues addressed

goal: maintain glucose levels close to normal, A1c < 7 (check every 3 mo)

A1c < 8.5% - metformin

A1c ≥ 8.5 - metformin + insulin

What are some complications of T2DM?

Diabetic retinopathy - ophtho consult at dx and q 1-2 years f/u

nephropathy, coronary dz, neuropathy, metabolic dysfunction-associated steatotic liver diseases (MASLD) --> NAFLD

How do you measure growth in patients <2 years? ≥2 years?

< 2 years - length

≥ 2 years - height

What is the secretion of growth hormone stimulated by?

hypothalamic GH-releasing hormone

How do you assess for bone age?

XRAY of left hand and wrist - GOLD STANDARD (assesses skeletal maturation)

*does NOT distinguish between different causes of growth issues

What is classified as delayed bone age?

2 standard deviations below chronological age

What is classified as advanced bone age?

2 standard deviations above chronological age

What classifies short stature?

suboptimal height relative to other children of same gender/age

growth failure - slow growth rate regardless of stature

How do you calculate midpaternal height? What is this used for?

to see if patient is growing as expected

for girls: [(paternal height (in) + maternal height (in))/2]-2.5

for boys: [(paternal height (in) + maternal height (in))/2]+2.5

*always repeat measurements if there is any concern

What is involved in the w/u for short stature?

if short, but normal velocity and no other sx --> bone age

further w/u --> if severe short stature (<0.6th%), decreased velocity (crossed 2 lines on growth chart), or if concern for syndrome, genetic or endocrine d/o

What are the causes of non-endocrine short stature?

nutrition - most important factor worldwide

constitutional delay - variation of normal growth-delay in growth/puberty, but achieve a normal height

genetic or familiar short stature - normal for parents, but lower than average height

syndromes - chromosomal d/o

Who should you refer patients with non-endocrine short stature to?

genetics if chromosomal d/o, peds endocrine if no cause found

What is the cause of endocrine related short stature?

growth hormone deficiency

What is the clinical presentation of endocrine related short stature?

infants --> normal or near-normal birth length and weight at term, but then growth slows

"cherub" appearance and high-pitched voice

What is the treatment for endocrine related short stature?

GH replacement - biosynthetic recombinant DNA-derived GH

What is precocious puberty?

secondary sexual characteristics development occurring before the age of:

9 years in boys

8 years in girls

What is the overall CP of precocious puberty?

the estrogen effect manifests as breast development, uterine increase, and eventually menarche

both boys and girls manifest the androgen effect as adult body odor, pubic and axillary hair, and facial skin oiliness and acne

What is the CP of central precocious puberty?

every endocrine and physical aspect of puberty is normal but EARLY

What is the CP of peripheral precocious puberty?

excess sex steroid production, activation of sex hormones outside of the brain

What is involved in the w/u for precocious puberty?

bone age - if pubarche and NOT progressing - no further w/u

testosterone, estradiol, LH, FSH

IF central precocious puberty - brain MRI IF:

-Male

-Female with CPP onset before age 6

Who should you refer patients with precocious puberty to?

peds endocrine

How do you treat precocious puberty?

central: analogs of GnRH - leuprolide, histrelin

inhibitors of testosterone synthesis, antiandrogen or aromatase inhibitor

if tumor - sx removal

When do you screen for congenital hypothyroidism?

part of newborn screen!

if positive screen --> serum to confirm

What is the CP of congenital hypothyroidism?

newborn: hypothermia, acrocyanosis, resp distress, lg fontanels, abd distention, lethargy and poor feeding, prolonged jaundice, edema, umbilical hernia, mottled skin, constipation, lg tongue, dry skin and hoarse cry

*needs to be identified EARLY --> most thyroid-brain dependent maturation occurs in first 2-3 years after birth

What lab values are diagnostic of congenital hypothyroidism?

low FT4, high TSH

Who should you refer congenital hypothyroidism to? Treatment?

peds endocrine

thyroid replacement - initiated before 1 mo of age

-levothyroxine

What is the mcc of acquire hypothyroidism?

lymphocytic autoimmune thyroiditis (Hashimoto thyroiditis)

T/F: acquired hypothyroidism is a cause of permanent developmental delay

F! it is NOT a cause of permanent developmental delay

When should you suspect acquired hypothyroidism?

if there is a decline in growth velocity (esp if NOT associated with WL)

What is Hashimoto Thyroiditis?

autoimmune process targeted against the thyroid gland leading to fibrosis and atrophy

common cause of goiter in children and teens - usually occurs after 6 mo of age and peaks in adolescence

What is the CP of acquired hypothyroidism?

goiter - firm, nontender goiter with a pebble-like surface, poor growth, facies, dry scaly skin, sparse brittle hair, sinus bradycardia, weight gain, menstrual irregularities

What lab values are diagnostic of acquired hypothyroidism?

low FT4, high TSH AND serum antithyroid peroxidase and antithyroglobulin antibodies

Who should you refer acquired hypothyroidism to? Treatment?

peds endocrine, levothyroxine

What is the usual cause of hyperthyroidism?

Grave's Disease - autonomous functioning of the thyroid caused by autoantibodies stimulating the thyroid

What is the CP of hyperthyroidism?

first presents as personality changes, mood instability and poor school performance --> can be mistaken for psych d/o

goiter - often present, pts will complain of "neck fullness"

What lab values are diagnostic of hyperthyroidism?

high FT4 and/or T3, low TSH

Who should you refer hyperthyroidism to? Treatment?

peds endocrine, pharm - MMI/PTU, radioactive iodine, sx

What condition is characterized by decreased or defective bone mineralization growth in children?

Rickets --> bones become soft and metaphysis widen

What is Calcipenic Rickets?

insufficient intake or failure to metabolize dietary Vit D into its active form OR insufficient intake or absorption of calcium with normal vit D levels

What is Phosphopenic Rickets?

low serum phosphate

What is the CP of Rickets?

poor linear growth, bowing of the legs on weight bearing, thickening at wrists and knees, prominence of the costochondral junctions of the rib cage - "rachitic rosary", parietal and frontal bossing, craniotabes, delayed closure of fontanelles

What is involved in the w/u of Rickets?

25-hydroxyvitamin D, Alk Phos, serum PTH, Pi and Ca, CMP --> screen for renal or liver disease

Who should you refer patients with Rickets to? Tx?

peds endocrine

depends on underlying cause - vit D (oral D2 or D3), +/- Ca, sx to straighten legs

How do you prevent Rickets?

vit D supplementation in breastfed infants

What is Ambiguous Genitalia?

virilization of genetic female (androgen excess) --> congenital adrenal hyperpalsia = mcc

underdevelopment of a genetic male (androgen deficiency)

What is the CP of Ambiguous Genitalia?

nonpalpable testes, micropenis, scrotal or perineal hypospadias, clitoromegaly, posterior labial fusion or palpable gonad(s) in labioscrotal folds

Who should you refer patients with ambiguous genitalia to? Treatment?

peds endocrine, urologist or gynecologist, psychologist, genetics

replace deficient hormones --> cortisol or testosterone

sx --> age is controversial

psychological support

What is the mcc of acute renal failure in children?

classic hemolytic uremic syndrome

What is the triad associated with classic hemolytic uremic syndrome?

microangiopathic hemolytic anemia, thrombocytopenia, AKI

What is the CP of classic hemolytic uremic syndrome?

enterocolitis with blood stools --> 7-10 days later by weakness, lethargy and oliguria/anuria

What is involved in the w/u for Classic Hemolytic Uremic Syndrome?

CBC and peripheral smear - schistocytes

renal function studies, UA, stool cx, coagulation studies

How do you dx classic hemolytic uremic syndrome?

clinically based on triad of microangiopathic hemolytic anemia, thrombocytopenia, and AKI

confirmed by positive test for Shiga toxin

How do you treat classic hemolytic uremic syndrome?

SC - volume repletion, HTN control and managing complications of renal insufficiency

What is the pathophysiology nephrotic syndrome?

caused by kidney diseases that increase the permeability across the glomerular filtration barrier

What is the most common primary form of nephrotic syndrome?

minimal change nephrotic syndrome

What is the CP of nephrotic syndrome?

proteinuria, hypoalbuminemia, edema (often periorbital, dependent pitting edema or ascites)

What is involved in the w/u of nephrotic syndrome?

UA w/ microscopy, CMP, BUN, Cr, lipid panel, CBC, complement levels, kidney bx - histology reveals underlying glomerulopathy (do if unlikely to be minimal change dz or likely a secondary cause or if age > 12 y/o)

How do you diagnose nephrotic syndrome?

BOTH of the following:

nephrotic range proteinuria:

-defined as >50 mg/kg/d or 40 mg/hr/m^2 in 24 hr urine collection

-early morning 'spot' urine protein to Cr ration > 2 mg protein/mg Cr (200 mg/mmol)

AND

Hypoalbuminemia

-plasma albumin level less than 3 g/dL

Who should you refer nephrotic syndrome to?

peds nephrology

How do you treat nephrotic syndrome?

steroids initiated if typical features of NS

-w/o renal bx

-prednisone mg/kg/d x 12 weeks

renal bx if no response

edema --> restrict salt intake

HTN --> BB or CCB

What is the % of relapse of nephrotic syndrome?

80% --> heavy proteinuria for 3 or more consecutive days

What is the CP of hypospadias?

abnormal location of the urethral meatal opening, testes undescended in 10% of boys with hypospadias, inguinal hernias are common

Who should you refer patients with hypospadias to?

peds urology, do NOT circumcise --> foreskin often used for repair

What is cryptorchidism?

undescended or absent testes

testes not w/in the scrotum and does not descend spontaneously into the scrotum by four months of age

What is the CP of cryptorchidism?

testes not palpable on exam --> empty and hypoplastic or poorly rugated scrotum or hemiscrotum, may have inguinal fullness

Who should you refer cryptorchidism to?

pediatric urology

How do you treat cryptorchidism?

sx correction (orchidopexy)

What are the complications of cryptorchidism?

testicular torsion, infertility, increased malignancy risk (5x) --> highest risk in untreated males or if surgical correction during/after puberty

What are labial adhesions?

adhesions that attach the labial minora to each other at the midline

though to be caused by inflammation of the labia minora combined with low estrogen in prepubertal females

What is the CP of labial adhesions?

partial --> upper or lower labia

complete --> small pinhole orifice

asx OR sx: pulling sensation, difficulty w/ urination, urinary dribbling, vag pain or d/c, recurrent UTIs or recurrent vag infx

What is the treatment for labial adhesions?

not needed if asx, small and does not affect urine stream

Tx if:

-extensive labial fusion, diversion of urinary stream, unable to collect clean catch, recurr vag/urinary infx

initial tx: topical estrogen or estradiol cream 0.01% or topical betamethasone applied twice daily

What should you do if a labial adhesions does not improved after topicals?

refer to pediatric urology for physical or surgical separation