Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

GEN PEDS > ENDOCRINE > Flashcards

ENDOCRINE Flashcards

1
Q

What are criteria for screening for T2 Diabetes in children?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

Congenital adrenal hyperplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

GI condition associated with Turner’s syndrome

A

Celiac disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

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

What is the condition?

A

Turner syndrome (XO)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

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

A

Slipped capital femoral epiphysis (SCFE)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Endocrine conditions associated with SCFE ? (2)

A

Hypothyroidism
Hypopituiarism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Genetic defect in Prader-Willi

A

15q11-13 deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Genetic defect in Kallmann?

A

ANOS gene mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Genetic defect in Klinefelter syndome

A

XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Genetic defect in Noonan syndrome

A

12q deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Critical labs to obtain during episode of hypoglycemia (6)

A
  • Glucose level
  • Ketones
  • Insulin level
  • C-peptide
  • Cortisone
  • Growth hormone
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are 3 conditions associated with bilateral cataracts?

A

Galactosemia
Wilson disease
Intrauterine infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

Septooptic dysplasia (SOD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the levels of LH and FSH in PCOS ?

A

Increased LH:FSH ratio

(but levels are usually within normal range)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

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

What is the diagnosis?

A

Cushing syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the initial test for suspected Cushing syndrome?

A

24-hour urine free cortisol level

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is the genetic defect in McCune-Albright syndrome?

A

Mutation in the alpha-subunit of stimulatory G protein

(leading to intracellular signaling without hormone stimulation!)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is a skin finding in McCune-Albright?

A

Cafe-au-lait spot

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Endocrine condition associated with lithium use

A

Diabetes insipidus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Most common genetic defect leading to isolated growth-hormone deficiency

A

GH1 deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

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

A

Delayed bone age
Delayed tooth eruption and loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are non-endocrine conditions associated with Kallmann syndrome?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

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

A

New-onset diabetes
Age < 5 yo

25
Q

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

A

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

26
Q

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

A

Thyroglossal duct cyst

27
Q

What is the associated problem with thyroglossal duct cyst?

A

Ectopic thyroid tissue

(in 50-65% of patients; can lead to HYPOthyroidism)

28
Q

Midline neck mass that does NOT move with swallowing
Diagnosis?

A

Dermoid cyst or Epidermoid cyst

29
Q

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

A

Klinefelter syndrome

30
Q

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

A

Mullerian agenesis

31
Q

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

A

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

32
Q

Midline facial defect, small testicle

What is the diagnosis? What is another typical finding?

A

Hypogonadotropic hypogonadism (Kallman syndrome)

Can have anosmia (absence of smell ability)

33
Q

What is the first line treatment for T2DM?

(2 different answers depending on a threshold)

A

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

34
Q

First line treatment of hypoglycemia in patient who is not completely conscious!

(2 different answers, depending on settings)

A 
Inpatient settings: IV D10W (5-10 mL/kg) or D25W
Outpatient settings (no IV access): Glucagon (0.5 - 1mg)
35
Q

Common electrolyte imbalance in a head-injury patient

A

Hyponatremia

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

36
Q

Where is the genetic defect in Beckwith-Wiedemann syndrome?

A

Chromosome 11p

37
Q

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

A

Wilm’s tumor
Adrenocortical carcinoma
Hepatoblastoma

38
Q

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

A

Anosmia
Neurosensory hearing loss
Mirror movements

39
Q

Chromosome break at Xq27
What is the diagnosis?

A

Fragile X syndrome

40
Q

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

A

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

41
Q

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

Diagnosis? Management?

A

Premature thelarche

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

42
Q

Associated findings of congenital hypothyroidism? (7)

A
  • Poor feeding
  • Macroglossia
  • Hypothermia
  • Bradycardia
  • Prolonged jaundice
  • Umbilical hernia
  • Open fontanelles
43
Q

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

A

Hypoparathyroidism

44
Q

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

A
  • Infant of diabetic mom
  • Intrauterin growth restriction
  • Sepsis
  • Birth asphyxia
45
Q

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 ?

A

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

46
Q

Baby with shortened femur, bicuspid aortic valve, horseshoe kidney

What is the diagnosis?

A

Turner syndrome

47
Q

13yo sick with low blood pressure, hyponatremia, hyperkalemia

What is going on? Treatment?

A

Adrenal insufficiency

Stress-dose steroid with hydrocortisone 100mg/m2

48
Q

weight loss, generalized weakness, orthostatic hypotension, hyper-pigmentation of skin.

What is going on ? What are associated lab abnormalities? (3)

A

Addison disease

Metabolic acidosis, HYPOnatremia, HYPERkalemia

49
Q

4 criteria for diagnosis of diabetes mellitus

A
  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)
50
Q

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

A
  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
51
Q

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

A
  1. Autoimmune thyroid disease
  2. Type 1 DM
  3. Addison disease (primary adrenal deficiency)
52
Q

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

A
  1. Chronic mucocutaneous candidiasis
  2. Hypoparathyroidism
  3. Addison disease (primary adrenal insufficiency)
  4. Chronic active hepatitis
  5. Pernicious anemia
  6. Insulin-dependent DM
53
Q

Newborn with hypoglycemia, microphallus.

What is going on?

A

Hypopituitarism

54
Q

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

A
  1. Hypoglycemia
  2. Microphallus
  3. Direct hyperbilirubinemia
55
Q

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?

A

Sotos syndrome (aka cerebral gigantism) - NOT an endocrine abnormality (hormones are normal)

Exam: large hands and feet - possible mild developmental delays

56
Q

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

What is it?

A

Follicular ovarian cyst

57
Q

What is a risk factor associated with follicular ovarian cyst?

A

Smoking

58
Q

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

A

12-24 months after menarche

59
Q

Patient with PCOS already on combination OCP, but has bad acne and hair growth

What is the treatment?

A

Add spironolactone

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

GEN PEDS (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions