ENDOCRINE Flashcards by Bao Truong

What are criteria for screening for T2 Diabetes in children?

BMI > 85%ile AND
1+ risk factors:
- family history
- high-risk ethnicity
- signs of insulin resistance
- maternal hx of gestational diabetes

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Male, pre-mature enlargement of penis, no testicular enlargement, hypertension.
What is the diagnosis?

Congenital adrenal hyperplasia

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GI condition associated with Turner’s syndrome

Celiac disease

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Female
Short stature
High arch palate (high, narrow roof of the mouth),
Low hairline at the back of the head

What is the condition?

Turner syndrome (XO)

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Anterior displacement of right femoral neck in relation to right femoral head
What is the condition?

Slipped capital femoral epiphysis (SCFE)

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Endocrine conditions associated with SCFE ? (2)

Hypothyroidism
Hypopituiarism

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Genetic defect in Prader-Willi

15q11-13 deletion

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Genetic defect in Kallmann?

ANOS gene mutation

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Genetic defect in Klinefelter syndome

XXY

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Genetic defect in Noonan syndrome

12q deletion

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Critical labs to obtain during episode of hypoglycemia (6)

Glucose level
Ketones
Insulin level
C-peptide
Cortisone
Growth hormone

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What are 3 conditions associated with bilateral cataracts?

Galactosemia
Wilson disease
Intrauterine infection

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Elevated direct bilirubin, nystagmus, microphallus
What is the diagnosis?

Septooptic dysplasia (SOD)

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What are the levels of LH and FSH in PCOS ?

Increased LH:FSH ratio

(but levels are usually within normal range)

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Proximal weakness, increased BMI with arrest in height development while gaining weight.

What is the diagnosis?

Cushing syndrome

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What is the initial test for suspected Cushing syndrome?

24-hour urine free cortisol level

(ACTH-stim test is only done after confirming Cushing to differentiate the cause)

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Normal testosterone but elevated testosterone to DHT.
What is the condition? What is the typical physical finding in neonate?

5-alpha reductase deficiency (enzyme converts testosterone to DHT)
Physical finding = ambiguous genitalia / undervirilization

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What is the genetic defect in McCune-Albright syndrome?

Mutation in the alpha-subunit of stimulatory G protein

(leading to intracellular signaling without hormone stimulation!)

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What is a skin finding in McCune-Albright?

Cafe-au-lait spot

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Endocrine condition associated with lithium use

Diabetes insipidus

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Most common genetic defect leading to isolated growth-hormone deficiency

GH1 deficiency

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What are some other issues seen in children with GH deficiency, besides slow growth in height?

Delayed bone age
Delayed tooth eruption and loss

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What are non-endocrine conditions associated with Kallmann syndrome?

Cleft-lip, cleft-palate (or other midline structure defect)
Congenital heart diseases
Renal agenesis

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Risk factors for cerebral edema among patients with DKA (2)

New-onset diabetes
Age < 5 yo

Which test would differentiate between genetic short stature vs constitutional growth delay? How?

Bone age Genetic short stature -\> normal bone age Constitutional growth delay -\> delayed bone age

Midline neck mass that moves upward with swallowing or with protrusions of the tongue

Thyroglossal duct cyst

What is the associated problem with thyroglossal duct cyst?

Ectopic thyroid tissue | (in 50-65% of patients; can lead to HYPOthyroidism)

Midline neck mass that does NOT move with swallowing Diagnosis?

Dermoid cyst or Epidermoid cyst

Gynecomastia, shy, cognitive problems in a male patient What diagnosis?

Klinefelter syndrome

Shortened vaginal cavity ending in a blind pouch with absence of the cervix. Which diagnosis?

Mullerian agenesis

Growth hormone is needed but can cause sudden death in which disease ? Which evaluation is thus required in this disease prior to starting growth hormone

Prader-Willi syndrome Should get a sleep study (to rule out OSA)

Midline facial defect, small testicle What is the diagnosis? What is another typical finding?

Hypogonadotropic hypogonadism (Kallman syndrome) Can have anosmia (absence of smell ability)

What is the first line treatment for T2DM? | (2 different answers depending on a threshold)

HbA1c \< 8.5%: metformin AND lifestyle changes HbA1c \>= 8.5%: metformin AND lifestyle changes AND basal insulin

First line treatment of hypoglycemia in patient who is not completely conscious! | (2 different answers, depending on settings)

``` Inpatient settings: IV D10W (5-10 mL/kg) or D25W Outpatient settings (no IV access): Glucagon (0.5 - 1mg) ```

Common electrolyte imbalance in a head-injury patient

Hyponatremia | (from SIADH / cerebral salt wasting, especially with hypotonic saline running)

Where is the genetic defect in Beckwith-Wiedemann syndrome?

Chromosome 11p

What are the tumors associated with Beckwith-Wiedemann syndrome (BWS)? (3 tumor types)

Wilm's tumor Adrenocortical carcinoma Hepatoblastoma

What are neurologic symptoms associated with Kallmann syndrome (3 symptoms)

Anosmia Neurosensory hearing loss Mirror movements

Chromosome break at Xq27 What is the diagnosis?

Fragile X syndrome

Webbed neck, downward slanted palpebral fissures, micrognathia in a male patient What is the diagnosis? What is the associated heart defect?

Noonan syndrome Right-sided cardiac lesions (especially pulmonary valvular stenosis)

Isolated breast development in first 2 years of life with no associated secondary sexual development in a female baby Diagnosis? Management?

Premature thelarche Just follow up - most of the time is benign (in rare case progress to true precocious puberty)

Associated findings of congenital hypothyroidism? (7)

- Poor feeding - Macroglossia - Hypothermia - Bradycardia - Prolonged jaundice - Umbilical hernia - Open fontanelles

Cause(s) on late onset (\> 72 hours of life) hypocalcemic seizures in newborn

Hypoparathyroidism

Cause(s) on early onset (\< 72 hours of life) hypocalcemic seizures in newborn

- Infant of diabetic mom - Intrauterin growth restriction - Sepsis - Birth asphyxia

Bone lucent lesion with a "ground glass" appearance due to loss of the trabecular pattern in shaft of long bone. What is this finding? Which endocrine disorder is it associated with ?

**Fibrous dysplasia** (immature woven bone that do not differentiate into mature lamellar bone) Associated with **McCune-Albright Syndome**

Baby with shortened femur, bicuspid aortic valve, horseshoe kidney What is the diagnosis?

Turner syndrome

13yo sick with low blood pressure, hyponatremia, hyperkalemia What is going on? Treatment?

Adrenal insufficiency Stress-dose steroid with hydrocortisone 100mg/m2

weight loss, generalized weakness, orthostatic hypotension, hyper-pigmentation of skin. What is going on ? What are associated lab abnormalities? (3)

Addison disease Metabolic acidosis, HYPOnatremia, HYPERkalemia

4 criteria for diagnosis of diabetes mellitus

1. HbA1c ≥ 6.5 2. Fasting plasma glucose ≥ 126 3. 2-hour plasma glucose ≥ 200 during OGTT 4. Random plasma glucose ≥ 200 WITH symptoms of diabetes (polyuria, polydipsia, polyphagia)

FDA-approved use of Growth Hormone therapy for which syndromes in children (8)

1. Turner 2. CKD before transplantation 3. Small for gestational age with lack of catch-up growth by 2 yo 4. SHOX haploinsufficiency 5. Noonan 6. Severe idiopathic short stature 7. Prader-Willi 8. AIDS wasting syndrome

Conditions associated with **autoimmune polyglandular syndrome type 2 (APS2)** (3)

1. Autoimmune thyroid disease 2. Type 1 DM 3. Addison disease (primary adrenal deficiency)

Conditions associated with **autoimmune polyglandular syndrome type 1 (APS1)** (6)

1. Chronic mucocutaneous candidiasis 2. Hypoparathyroidism 3. Addison disease (primary adrenal insufficiency) 4. Chronic active hepatitis 5. Pernicious anemia 6. Insulin-dependent DM

Newborn with hypoglycemia, microphallus. What is going on?

Hypopituitarism

What are 3 red-flags in neonate that together are concerning for hypopituitarism?

1. Hypoglycemia 2. Microphallus 3. Direct hyperbilirubinemia

LGA neonate, accelerated growth in first 5 years of life, then return to normal growth rate. What is the condition? What to be expected on exam as teenager?

Sotos syndrome (aka cerebral gigantism) - NOT an endocrine abnormality (hormones are normal) Exam: large hands and feet - possible mild developmental delays

Pelvic ultrasound showed a unilocular, echogenic, thin-walled mass in R adnexa with normal blood flow. What is it?

Follicular ovarian cyst

What is a risk factor associated with follicular ovarian cyst?

Smoking

Most common time frame for periods to reach a regular frequency after menarche

12-24 months after menarche

Patient with PCOS already on combination OCP, but has bad acne and hair growth What is the treatment?

Add spironolactone (which is a K-sparing diuretic with anti-androgen properties!)