Endocrinology Flashcards
What is protective against T2DM
breastfeeding, weight loss, healthy behavior interventions, bariatric surgery, orlistat/metformin
Risk factors for T2DM development
first or second degree relative with T2DM
being a member of a high risk group (Asian, indigenous, african, arab, hispanic)
obesity
impaired glucose tolerance
PCOS
exposure to diabetes in utero
acanthosis nigricans
HTN, dyslipidemia
NAFLD
atypical antipsychotic medications
what is recommended screening test for T2DM
fasting blood glucose
What is target AIC for most children with T2DM
< 7.0%
When do you need to start insulin immediately in T2Dm
present in DKA
A1C > 9
severe symptoms of hyperglycemia
Who is higher risk for developing CV and microvascular complications T1 or T2
T2DM children
RF for complications in T2Dm
older age at diagnosis
poorer metbaolic control
Screening for complications schedule in T2Dm
Neuropathy- yearly at diagnosis (asking about symptoms , vibration sense, light touch and ankle reflexes)
retinopathy- yearly screening at diagnosis
nephropathy- yearly screening at diagnosis with first morning ACR
dyslipidemia- at diagnosis and yearly afterwards
HTN- at diagnosis and every diabetes related encounter after (at least twice per year)
NAFLD0 yearly screening at diagnosis
PCOS yearly screening at diagnosis
OSA- yearly
depression- yearly
binge eating- yearly
Who to screen for T2DM and when
Every 2 years using a combination of A1C and HPG in children with > 3 risk factors nonpubertal (starting age 8) or >2 risk factors pubertal
RF:
- obesity (BMI >95)
- high risk ethnic group
- first degree relative with T2DM or exposure to DM in utero
- signs of insulin resistnace (acanthosis, HTN, dyslipidemia, NAFLD)
Also screen: PCOS, IFG, use of atpical antipsyhotic medicationsq
A1C target T1DM
< 7.5%
increased DKA risk
children with poor control or previous episodes of DKA
peripubertal and adolescent girls
children with pumps
ethnic minorities
children with psych disorders
difficult family cirucmstances
RF for cerebral edema
bolus of insulin before infusion
early insulin (within 1 hour of fluid)
young children (<5)
First presentation DM
greater severity of acidosis
high initial urea
low CO2
rapid administation of hypotonic fluids
failure of serum sodium to rise during treatment
use of bicarbonate
Screening in T1DM
Thyroid disease- TSH and TPO, at diagnosis and every 2 years after (every 6-12mo if TPO Ab +)
AI- as clinically indicated
celiac disease- as clinically indicated
nephropathy- yearly starting at age 12 if DM >5 years with first morning ACR
retinopathy- yearly screening starting at age 15 with DM > 5 years
Neuropathy - children over 15 with poor control should be screened after 5y of DM
Dyslipidemia- delay screening until control stable, screen at 12 and 17 years f age, < 12 only screen if BMI > 97th, family history
HTN- all children with T1DM at least twice per year
How much glucagon to give >5 and < 5
1mg over 5 and 0.5mg under 5
when to start giving dextrose in DKA
BG < 17
definition of albuminuria
> 2.5mg/mmol AER >20mcg/min
when should you do genetic testing for neonatal DM
Before 6mo
how to diagnose DM
FAsting BG > 7
Random BG or 2hr OGT BG >11
antibodies- GAD, insulin, islet cell
How is MODY inherited
autosomal dominant
Enzyme deficiency for MODy
glucokinase, HNF1a, HNF4a
How to treat MODY
sulfonylureas
critical sample for hypoglycemia
blood glucose, insulin, c-peptide, growth hormon, cortisol, ketones, lactate
total and free carnitine and acylcarnitine, plasma amino acids, ammonia
micropenis size
< 2.5cm in term infant
clitoromegaly defn
> 9mm in term infant
what is the msot common DSD in 46XX
CAH
what is responsible for testes determination/formation
SRY gene on Y chromosome
what do Leydig and sertoli cells secrete
Leydig- testosterone
Sertoli- AMH
What is Swyer syndrome
XY individuals but defect in SRY gene so can’t develop testes, can’t develop AMH
Phenotypically female and have mullerian structures but gonads are streak gonads, they do not go through breast development or menarche at puberty
Can have some virilization
Denys Drash
partial gonadal dysgenesis with undervirilized or ambiguous genitalia and absent mullerian structures
they also have renal dsiease and will develop ESRD
WT1 gene mutation
increased risk for wilms tumor
when to suspect Complete androgen insensitivity
prepubertal girl with male goands during evaluation of inguinal hernias or evaluation for primary amenorrhea
How to diagnose adrenal insufficiency
ACTH stimulation test- low dose for central AI and high dose for eripheral AI
cortisol drawn at 0, 30 and 60 minutes
Cortisol peak > 350 is normal at ACH
What is normal growth velocity
> 4.5cm per year pre pubertal
Ddx poor growth velocity
GH deficiency
hypothyroidism
AI
Cushings
chronic disease states
how to calculate mid parental height
mothers height + fathers height (+/-13cm) /2
Ddx short statrue with normal bone age
familial short stature
turner, russel sliver, prader willi
Features of GH deficiency
poor growth velocity
crossing percentiles
hypogylcemia
micropenis
how to diagnose GH deficiency
May have low IGF-1
Gold standard = growth hormone stim test by giving arginine, clonidine, L-dopa, propanolol or glucagon (insulin not used in peds)
normal peak of >5 on ether test rules out GHD
Side effects of GH
SCFE, IIH, hyergylcemia, growth of nevi, carpal tunnel, injection site reactions, sudden death in pt with OSA
INdications for GH therapy
turner, chronic renal failure, SGA with inadequate catch up growth, ISS, SHOX mutation, prader willi, noonan, GH deficiency
Tall stature ddx
klinefeleter, familal, late onset CAH, recocious puberty, growth hormone exesss obesity
overgrowth syndromes in infants
timing of puberty boys and girls
8-13 in girls
9-14 in boys
normal pubertal progression in girls
thelarche
pubarche within 6mo
peak growth spurt tanner 2-3
menarche 2y after thelarche
normal pubertal progression in boys
increased testicular volume, scrotal thinning
pubarche
secondary sexual characterisitics
peak growtwh velocity tanner 5
Benign premature thelarche
usually within first 2 years of life
no advancement of bone age
no other pubertal changes
benign premature adrenarche
virilizing changes between 6-8 years
no bone age advancement
no other pubertal changes
Red flags for precocious puberty
rapid progression of puberty
bone age advancement > 2 years
CNS signs and symptoms
Investigations for precocious puebrty
Boys ALWAYS need head imaging, girls if young age
peripheral- labs/imaging to determine source
How to treat precocious puberty
GnRH analog (lupron)
define delayed puberty
absence of secondary sexual characteriitics by age 13 in girls, 14 in boys
what do sertoli cells produces
AMH
what do leydig cells produce
testosterone
definition of clitiromegaly
wider than 6mm longer than 9mm
micropenis
<2.5cm in term infant
inheritance CAH
AR
what % of CAH is 21OH def
95%
when does salt wasting present
DOL 7-14
how does classic non salt wasting CAH present
virilization age 2-4
what first AM cortisol suggests insuff
< 100
> 350 is normal
causes of primary AI
autoimmune (addisons)
CAH
Adrenoleukodystrophy, Smith lemli opitz
infection, drugs, infiltration
stress doings doses
HC
moderate 30-50mg/m2
severe 100mg/m2
triad for septo optic dysplasia
optic nerve hypoplasia
midline brain abnormalities
pituitary hypoplasia
what is septo optic dysplasia associated with
lower maternal age and primiparity
growth velocity first year, 1-4 and over 5
0-1 25cm/year
1-4 10cm/year
5< 5cm/year
what are you look for on water deprivation test
as serum osm increases over 300, urine concentration should > 1000
how is nephrogenic DI inherited
X linked
how is central DI inherited
AD, AR, x-inked
what medications/interventions can cause nephrogenic DI
osmotic diuresis (hypertonic saline bolus), lithium, hypercalcemia, hypoklamiea, CKD
fluid status in SIADH
normovolemia
fluid status in cerebral salt wasting
hypovolemia
MEN 1
pituitary, parathyroid, pancreas tumors (insulinoma)
Autoimmune polyglandular syndrome
Type 1 DM, esp AI or hypoparathyroidism, candidiasis, ectodermal dystrophy
APS 2
AI, thyroid, DM
Albrights osteodystrophy
pseudohypoPTH, dont respond to this so you get low Ca and high PO4
Also get short stature, brachydactylyl of digits 3/4/5, round face with low nasal bridge,
Whats the most important way to get vit D
cutaenous synthesis
vitamin D dependent ricketts
dont have 1, alpha hydroxylase to make 1,25 vit D
x-linked hypophosphatemia
dont respond to FGFR23 so low phophate, normal calcium
Lab findings in PCOS
High LH/FSH ratio (and high androgens)
What is the bone age in GH deficiency
Delayed
Cause of proximal RTA
cystinosis (most common)
tyrosinemia
galactosemia
heredtiary fructose deficiency
wilsons
DEnt disease
x-linked nephrolithiasis
What to consider in phenotypic female with bilateral inguinal hernias
androgen insensitivity
Most common cause of ectopic ACTH secretion in a baby
adrenalcortico tumor
Most common cause of ACTH secretion in a older child
pituitary adenoma
What lyte disturbances can cause nephrogenic DI
hypoK and hyperca
What is target HbA1C in DM
< 7.5
Growth velocity in first year of life
18-25cm/yr
Laron syndrome
GH resistance
LAurence moon biedel
short stature, retinitis pigmentosa
GH for
Turner, Gh def, noonan, CKD, SHOX def, prader willi, SGA without catch yp and idiopathic shrot < 2.25 SD
GH SE
edema, joint pan, PTC, local bruising , wrosening scoliosis, insulin resistance, SCFE, gynecomastia
When to screen for T2DM
BMI over 85th and 2 of fam hx, ethnicity, mat DM/GDM, PCOS/acanthosis, screen at age 10 or puberty, whichever is earlier
insulin to carb ratio
500/TDDD
when to start screening for nephrotpathy in DM
age 10 or after 5 years
Target HbA1C in T2DM
< 7
easy way to figure out correction factor for insulin
10-20% TDD
