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Pedia > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

Most common tumor in sella turcica

A

craniopharyngioma

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2
Q

Pituitary tumor came from

A

Rathke’s pouch

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3
Q

Oxytocin type of feedback

A

Positive

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4
Q

Underproduction of growth hormone alone or in combination with other hormones

A

Hypopituitarism

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5
Q

Vasopressin deficiency

A

Central DI

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6
Q

Vasopressin insensitive kidney

A

Nephrogenic DI

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7
Q

DI
DM
Optic atrophy and deafness

A

Wolfram syndrome

Didmoad syndrome

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8
Q

Polyuria >5cc/k/h
Polydypsia

AVP on distal tubules

A

Diabetes insipidus

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9
Q

Most common etiology of CDI

A

Brain tumor 50%

Others
Idiopathic
Head trauma
CNS infection
Histiocytosis
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10
Q

Clinical manif of DI

A 
Poor feeding
Failure to thrive
Polyuria
Irritability
Growth retardation
Seizure 2 to dehydration
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11
Q

Dx of DI

A 
24h urine collection
Pale colorless urine with SG of 1.001-1.005
Urine osmo 350-200 mosm/kg
Hypernatremia
Hyperchloremia
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12
Q

Appearance of secondary sex characteristics before accepted age

Breast bud in girls before:

Testicular enlargement in boys:

A

Precocious puberty

8 years

9 years

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13
Q

Earliest manifestation of puberty in girls

in boys

A

Thelarche

Testicular enlargement

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14
Q

Most common cause of gonadotropin precocious puberty

A

Hypothalamic hamartoma

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15
Q

Precocious puberty
Polyostotic fibrous dysplasia
Cafe au lait spot (unilateral)

A

McCune Albright Syndrone

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16
Q

Precocious puberty polyostotic fibrous dysplasia

A

Coast of Maine (cafe au lait)

McCune Albright

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17
Q

Tx for precocious puberty

A

Leuprolide acetate

GnRH agonist to inhibit GH

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18
Q

Absence of signs of puberty
Age of onset for boys: 14
For girls 13

A

Delayed puberty

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19
Q

Prostatic utricle homologue from paramesonephric duct

A

Uterus, cervix, vagina

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20
Q

Epididymis homologue from mesonephric duct

A

Gartner’s duct

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21
Q

Prostate homologue from urogenital sinus

A

Skene’s gland

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22
Q

Cowper’s

Bulbourethral gland homologue from urogenital sinus

A

Bartholin’s gland

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23
Q

Scrotum homologue

A

Labia majors

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24
Q

Penis homologue

A

Clitoris

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25
Q

Paramesonephric duct or

Mullerian duct

A 
Fallopian tube
Prostatic utricle
Uterus
Cervix
Vagina
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26
Q

Mesonephric duct

Wolffian duct

A 
Rete testes
Rete ovarii
Epididymis
Gartner’s duct
Vas deferens
Seminal vesicle
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27
Q

Female Pseudo-Hermaphroditism causes

A

CAH

Maternal androgen

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28
Q

Causes of CAH

A

21 hydroxylase def
11 alpha hydroxylase def
3 betahydroxysteroid dehydrogenase def

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29
Q

Caused by 21 hydroxylase deficiency

Most important presentation:

A

CAH

ambiguous genitalia

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30
Q

Tx of CAH

A

cortisol

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31
Q

Hypospadia
Ambiguous genitalia
Syndactyly

Syndrome

A

Smith Lemli Opitz Syndrome

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32
Q

Hypospadia
Ambiguous genitalia
Syndactyly

Deficient enzyme

A

7 dehydrocholesterol reductase

Smith Lemli Opitz Syndrome

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33
Q

Newborns with CAH are at risk for

A

Neonatal adrenal crisis 2 to sodium loss because of absent aldosterone

Tx with cortisol

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34
Q

Most common cause of genital ambiguity

A

CAH

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35
Q

Male phenotype of turner syndrome

A

Noonan syndrome

36
Q

Pulmonary stenosis
Pigeon breast
Webbing of neck
Short

A

Noonan syndrome

37
Q

Most common cardiac problem in turner

A

Coarctation of aorta

and ovarian dysgenesis and amenorrhea

Wide spaced nipples

38
Q 
Thyroid dysgenesis (ectopic)
Thyroid scan or through utz (mass at back of tongue or middle part of neck at hyoid)
A

Congenital hypothyroidism

39
Q

85% of hypothyrodism caused by

A

Thyroid dysgenesis

40
Q

Hypothyroidism may be caused by inborn error of

A

thyroxine synthesis and maternal transfer of TRBab (thyrotropin-receptor blocking antibody)

41
Q

1/3 of cases in thyroid dysgenesis is assoc with

2/3 of dysgenesis present with

A

aplasia

thyroid ectopic tissue lingual

42
Q

Thyroid dysgenesis manifestation

A 
Prolonged jaundice
Large tongue
Mental retardation
Umbilical hernia
Sluggish
Feeding difficulties
Somnolence
Constipation 
Cold mottled skin
Edema
Large abdomen
43
Q 
Intractable neonatal hypoglycemia in infants
Macroglossia
Large size
Visceromegaly
Mild microcephaly
Omphalocoele
Facial nevus flammeus
Earlobe crease
A

Beckwith Wiedemann Syndrome

44
Q

Carcinoma assoc with Beckwith Wiedemann Syndrome

A

Wilm’s tumor
Hepatoblastoma
Rhabdomyosarcoma

45
Q

First clinical manifestation of Congenital hypothyroidism

A

growth deceleration

46
Q

Congenital hypothyroidism dx

A

newborn screening
low T4
inc TSH

47
Q

congenital hypothyroidism tx

A

L thyroxine

48
Q

Most common cause of thyroid disease in children

Most common cause of acquired hypothyroidism

A

Thyroiditis
Lymphocytic thyroiditis
Hashimoto thyroiditis
Autoimmune thyroiditis

49
Q

Catecholamine secreting tumor of chromaffin cell

Dx:

Tx:

A

Pheochromocytoma

VMA

Phenoxybenzamine

50
Q

Catecholamine secreting tumor of chromaffin cell in pediatrics

A

Neuroblastoma

51
Q

More sensitive test for pheochromocytoma

A

Urine metanephrine vs VMA

52
Q

Beta cell destruction leading to absolute insulin def (insulin dependent DM or IDDM)

Immune related
Idiopathic
Ketoacidosis
Polydypsia, polyuria, polyphagia
Patients are lean
A

DM

53
Q

Predominantly insulin resistance to predominantly secretory defect with insulin resistance

Non insulin dep DM 90% of cases
Very strong genetic component
80% obese

A

DM T2

54
Q

Insulin levels extremely low

In 20-40% of children with new onset DM and non compliant patients

A

DKA

55
Q

Temporary delay in patient’s growth
No physical abnormality in the child
Once puberty hits, catch-up growth occurs

A normal variant and not pathologic

A

Constitutional delay of growth and adolescence

56
Q

Child’s height falls along or below the midparental height, not pathologic.

A normal variant.

Remember to check the parent’s heights as well before concluding that the child is stunted.

A

Familial Genetic short stature

57
Q

Chronic disease
Child will channel his energy toward eliminating the disease, thus growth is affected

With malnutrition, the body is not able to grow accordingly.

A

Primary nutritional deficiency

Severe chronic illness

58
Q

In absence of GH, there would be no stimulus for growth but once treatment with GH (supplementation) is started, child will start to grow.

A

Congenital GH deficiency

59
Q

Recall that one of the manifestations of Turner is short stature

A

Turner syndrome

untreated

60
Q

Deficiency of 21 hydroxylase leads to build up of dihydroepiandrostenedione (overproduction of androgen)

DHEA stimulates

A

transformation of genitalia into male organ (not testosterone)

virilization of female baby

61
Q

Confirmatory test for Congenital Adrenal Hyperplasia by screening

A

17-hydroxyprogesterone

62
Q

CAH from 21 hydroxylase deficiency will also manifest with

A

Lack of aldosterone, corticosteroids or glucocorticoids

Hyponatremia, Hyperkalemia (lack of aldosterone)
Hypoglycemia (lack of glucocorticoid, no gluconeogenesis and glycogenolysis)

63
Q

Hyponatremia
Hyperkalemia
Hypoglycemia

A

CAH

64
Q

Hyperpigmentation occurs in CAH because of excessive

A

ACTH where Melanocyte stimulating hormone is produced

More pigmented

65
Q

The innate tendency is for a biopotential fetus to develop into a

A

Female

66
Q

For the fetus to develop into a male, it requires:

A

Testes determining factor (sex determining region of Y or SRY)

Testicular production of Anti-Mullerian Hormones (AMH) also called Mullerian Inhibiting Substance and testosterone

Normal gonadotropin production by HPA

Testosterone -> Dihydrotestosterone by 5 alpha reductase

Organ response to androgen

67
Q

CAH may present as

A

Undermasculinization of males

Virilization of genetic females

68
Q

First sign of virilization (lalaki) in females

A

rugation of labia majora

69
Q

Tells you about enzyme activity (21 hydroxylase)

A

Severity of electrolytes

70
Q

Male primordial tissue

A

Wolffian duct

71
Q

Female primordial tissue

A

Mullerian

72
Q

Undervirilization of genitalia

A 
Male pseudohermaphroditism 
(kulang)
73
Q

Virilization of genitalia

A

Female pseudohermaphroditism

74
Q

In males, genital ambiguity is caused by

A

Testicular synthetic defect in male sex hormone (androgen) biosynthesis
Resistance to those hormones in target tissue (male pseudohermaphroditism)

75
Q

In females, ambiguous genitalia is due to

A

Congenital adrenal hyeprplasia (21 hydroxylase deficiency, 11 apha hydroxylase, 3 beta hydroxylase) excess androgen
Incomplete gonadal dysgenesis - partial testis determination in presence of Y chromosome

76
Q

Male Pseudohermaphroditism

A 
Dysmorphic syndrome
Defect in testosterone biosynthesis
Defect in androgen target tissue
Persistent mullerian duct syndrome
Gonadal dysgenesis
Vanishing testes
77
Q

Defect in testosterone biosynthesis

A 
Cholesterol desmolase (20,22 desmolase)
17 alpha hydroxylase
3 beta-hydroxysteroid dehydrogenase
17,20 lyase (desmolase)
17 beta hydroxysteroid oxidoreductase (ketoreductase) deficiency
Leydig cell hypoplasia 
HCG resistance
78
Q

Defects in androgen target tissues

A

5 alpha reductase
Androgen insensitivity (testicular feminization)
Incomplete resistance

79
Q

Ambiguous genitalia DOC

A

Prednisone
Hydrocort
Fludrocortisone

80
Q

What is used to locally screen for congenital hypothyroidism

A

TSH

81
Q

Congenital hypothyroidism must be diagnosed and treated by HRT by

A

2 months

82
Q

Secondary short stature is usually due to

a. Environmental
b. Hereditary
c. Idiopathic
d. Recurrent

A

Environmental

83
Q

The following should be obtained when assessing short stature except

a. bone age
b. height of grand parents on both sides
c. maternal height
d. paternal height

A

B

84
Q

The ff are clinical indications for growth hormone replacement except:

a. Constitutional short stature
b. Growth hormone deficiency
c. Small for gestational age
d. Turner syndrome

A

Constitutional short stature

85
Q

All of the ff parameters are important to know in assessing short stature EXCEPT

a. Bone age
b. Chronologic age
c. Gestational age
d. Height for age

A

Height for age

86
Q

Synthetic nonapeptide GnRHR agonist for prostate cancer, endometriosis, uterine fibroids, central precocious puberty

A

Leuprolide acetate

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