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1
Q

Syndrome characterized by disturbance of metabolism of carbohydrate, protein, and fat, resulting from deficiency in insulin secretion or its action

A

DIABETES

2
Q

Most common endocrine disorder of the pediatric age group

A

Diabetes

3
Q

HLA-DR3 and -DR4 (chromosome 6)

A

Insulin dependent DM

4
Q

Type I vs Type II DM: Ketosis common

A

Type I

5
Q

Type I vs Type II DM: Hyperosmolar coma

A

Type II

6
Q

Type I vs Type II DM: Impaired glucose tolerance

A

Type II

7
Q

Diagnosis of DM in children

A

􏱄 Fasting blood glucose > 126 mg/dL 􏱄 Random blood glucose > 200 mg/dL

8
Q

Primary ETIOLOGY of HYPERPITUITARISM

A

Pituitary Adenoma 􏱄 Growth hormone (GH)-secreting adenoma 􏱄 Prolactin-secreting adenoma

9
Q

Secondary ETIOLOGY of HYPERPITUITARISM

A

􏱄 Primary hypogonadism 􏱄 Primary hypoadrenalism 􏱄 Primary hypothyroidism

10
Q

Deficiency of more than one pituitary hormone or growth hormone alone

A

HYPOPITUITARISM

11
Q

PANHYPOPITUITARISM in neonates

A

Hypoglycemia and a micropenis

12
Q

Craniopharyngioma, hyper vs hypopituitarism

A

HYPOPITUITARISM

13
Q

Insulin counter-regulatory hormones

A

GH and cortisol

14
Q

Poor linear growth, hypoglycemia

A

GH deficiency

15
Q

HYPOPITUITARISM: LH and FSH deficiency manifests as

A

pubertal delay

16
Q

HYPOPITUITARISM: Treatment

A

Hormonal replacement

17
Q

Prolactin secretion is tonically inhibited by

A

Dopamine

18
Q

􏱄 Headache 􏱄 Amenorrhea 􏱄 Galactorrhea

A

Prolactinoma

19
Q

DI: Acquired, any age

A

Central

20
Q

DI: X-linked recessive, males—early infancy

A

Nephrogenic

21
Q

Toxins that cause nephrogenic DI

A

Lithium, demeclocycline

22
Q

Tumors that can cause central DI

A

Suprasellar tumors (craniopharyngioma)

23
Q

Central vs nephrogenic DI: Polyuria

A

Both

24
Q

Central vs nephrogenic DI: Excessive thirst, enuresis

A

Central

25
Q

Central vs nephrogenic DI: Polyuria, failure to thrive (FTT), hyperpyrexia, vomiting, hypernatremic dehydration

A

Nephrogenic

26
Q

High urine output despite significant dehydration

A

DI

27
Q

􏱄 Increased serum osmolality (N less than 290 mOsm/L) 􏱄 Increased serum Na (N less than 145 mmol/L) 􏱄 Dilute urine (N > 150 mOsm/L)

A

DI

28
Q

Treatment for central DI

A

Fluids, Desmopressin (DDAVP)

29
Q

Treatment for nephrogenic DI

A

Fluids, Thiazide diuretic (paradoxical effect)

30
Q

Endocrinologic abnormality seen that may be seen with 􏱄 Positive pressure ventilation 􏱄 Rocky Mountain spotted fever 􏱄 Pneumonia

A

SIADH

31
Q

SIADH is asymptomatic until Na ___

A

Less than 100

32
Q

Urine osmolality ___ excludes diagnosis of SIADH

A

Less than 100 mOsm/kg

33
Q

T/F SIADH presents with edema

A

F

34
Q

SIADH: Hyponatremia vs hypernatremia

A

Hyponatremia

35
Q

SIADH: Urina Na increased vs decreased

A

Increased

36
Q

Treatment for SIADH if symptomatic

A

Hypertonic (3%) saline

37
Q

Treatment for SIADH if asymptomatic

A

Fluid restriction

38
Q

NORMAL FEMALE PUBERTAL PROGRESSION

A

Thelarche → height growth spurt → pubic hair → menarche (13 years)

39
Q

NORMAL MALE PUBERTAL PROGRESSION

A

Testicular enlargement → penile enlargement → height growth spurt (14 years) → pubic hair

40
Q

T/F Increase in height velocity in boys occurs at a later chronologic age than in girls

A

T

41
Q

Most normal ___-year-old girls have pubic hair

A

11

42
Q

Precocious Puberty: Referred to as premature pubic hair development

A

Adrenarche

43
Q

Precocious Puberty etiology, male and female

A

Premature activation of the hypothalamic–pituitary–gonadal axis (Gonadotropin dependent—increased FSH and LH OR Gonadotropin independent—excess sex steroids (decreased FSH and LH))

44
Q

Precocious Puberty etiology, male

A

1) Gonadotropin from brain tumor (Bilateral testicular enlargement) 2) Gonadal tumor—testicular Leydig cell tumor (Unilateral testicular enlargement) 3) Adrenal CAH (prepubertal testes)

45
Q

T/F Precocious puberty in girls is usually idiopathic, while in boys it usually has an organic cause

A

T

46
Q

Tanner stages, breast

A
47
Q

Tanner stages, male genital

A
48
Q

Tanner stages, female and male pubic hair

A
49
Q

Precocious Puberty etiology, female

A

1) McCune Albright syndrome (CAH or ovarian granulosa cell tumor) 2) Exogenous sex steroids

50
Q

􏱄 Normal growth rate and bone age 􏱄 Prepubertal level of gonadotropins and estrogen 􏱄 Isolated breast development

A

Premature Thelarche

51
Q

􏱄 Androgen normal for pubertal stage but elevated for chronologic age. 􏱄 Adrenal tumor needs to be excluded.

A

Premature adrenarche (early appearance of sexual hair without other signs of sexual development)

52
Q

Delayed Puberty is defined as absence of pubertal development by ___ in girls and ___ in boys

A

13 years; 14 years

53
Q

Delayed Puberty is more common in, males vs females

A

Males

54
Q

Causes of delayed puberty in females

A

􏱄 Constitutional 􏱄 Primary ovarian failure 􏱄 Turner’s syndrome 􏱄 Hypogonadotropic hypogonadism 􏱄 Kallmann’s syndrome 􏱄 Hypopituitarism 􏱄 Prader–Willi syndrome

55
Q

Causes of delayed puberty in males

A

Same as female but Turner not applicable + 􏱄 Klinefelter’s syndrome

56
Q

X-linked hypogonadotropic hypogonadism affecting males and females, associated with anosmia, cleft lip/palate, and other midline defects

A

Kallman syndrome

57
Q

Pseudohermaphrotidism in females

A

CAH

58
Q

Enzyme deficient in CAH

A

21-hydroxylase

59
Q

Normal gonads and uterus (both gonads are ovaries) with virilization of exter- nal genitalia in a patient with a 46,XX karyotype

A

CAH

60
Q

Signs and symptoms of CAH

A

􏱄 Ambiguous genitalia 􏱄 Virilization of external genitalia 􏱄 Clitoral hypertrophy 􏱄 Labioscrotal fusion

61
Q

􏱄 46,XY male 􏱄 Normal testes (both gonads are testes) 􏱄 Undervirilization of external genitalia

A

Pseudohermaphrotidism in males

62
Q

Etiology of pseudohermaphrotidism in males

A

􏱄 Androgen insensitivity 􏱄 Enzyme defects in testosterone synthesis

63
Q

SIGNS AND SYMPTOMS of pseudohermaphrotidism in males

A

􏱄 Small phallus 􏱄 Hypospadias 􏱄 Undescended testes

64
Q

MCC of tall stature

A

Familial

65
Q

Syndromes associated with tall stature

A

1) Marfan 2) Homocystinuria 3) Klinefelter 4) Sotos (cerebral gigantism)

66
Q

Short stature is defined as

A

Height below 5th percentile or more than 2 SD below normal mean for age and gender

67
Q

Normally, stature is characterized by

A

Chronological age = Bone age = Height age

68
Q

Normal growth rate

A

5cm/year

69
Q

MCC of short stature

A

Familial (at least 1 parent has short stature)/constitutional/normal variants (at least 1 parent has short stature)

70
Q

In CONSTITUTIONAL short stature, height is normal at birth, then decelerate between

A

6 mos and 1 year old

71
Q

In CONSTITUTIONAL short stature, normal growth rate is resumed by

A

2-3 y/o

72
Q

Familial vs constitutional short stature: Normal bone age, Puberty at average age

A

Familial

73
Q

Familial vs constitutional short stature: Delayed puberty, Delayed bone age (bone age = height age)

A

Constitutional

74
Q

Children with this type of short stature are the so-called “late-bloomers.”

A

Constitutional

75
Q

NUTRITIONAL causes of short stature

A

􏱄 Irritable bowel disease 􏱄 Celiac disease 􏱄 Anemia

76
Q

Endocrine causes of short stature

A

GROWTH HORMONE DEFICIENCY, HYPOTHYROIDISM, PITUITARY, CUSHING’S SYNDROME

77
Q

Children with psychosocial deprivation clinically resemble children with ___ with retardation of bone age and similar findings on ___ testing

A

GH deficiency; GH stimulation

78
Q

T/F In PSYCHOSOCIAL DEPRIVATION, testing and growth revert to normal when the child is removed from the deprived environment

A

T

79
Q

GH therapy increases the risk of what CA

A

Leukemia

80
Q

Pathologic causes of short stature

A

GROWTH HORMONE DEFICIENCY, HYPOTHYROIDISM, CUSHING’S SYNDROME

81
Q

Substances that may be used for GH stimulation test

A

Insulin, Arginine, GHRH

82
Q

Result of GH stimulation test in GROWTH HORMONE DEFICIENCY

A

Inadequate respons

83
Q

GROWTH HORMONE DEFICIENCY Treatment

A

Biosynthetic human GH

84
Q

What inhibits growth in CUSHING’S SYNDROME

A

Cortisol

85
Q

CHROMOSOMAL DISORDERS that cause short stature

A

􏱄 Turner’s syndrome/Noonan syndrome 􏱄 Down’s syndrome 􏱄 Silver–Russell syndrome

86
Q

Genotype of Noonan

A

46,XX or 46,XY

87
Q

Chromosome affected in Noonan

A

12

88
Q

EPIDEMIOLOGY of Noonan, gender

A

􏱄 Males = Females

89
Q

T/F Patients with Noonan’s syndrome have a normal karyotype

A

T

90
Q

Distinguishing features of Noonan

A

􏱄 Cardiac—often pulmonary stenosis 􏱄 Pectus carinatum/excavatum 􏱄 Short webbed neck 􏱄 Prominent pads of digits

91
Q

A slow growth rate regardless of stature

A

Growth failure

92
Q

Short stature that requires diagnostic evaluation

A

Height 3.5 SDs below the mean; Height velocity below the 5th percentile for age; Height below the target height corrected for mid-parental height

93
Q

Most important factor affecting growth on a worldwide basis

A

Nutrition

94
Q

Increasing secretion of gonadal sex steroids as a result of the maturation of the hypothalamic-pituitary-gonadal axis

A

Gonadarche

95
Q

Crucial to prevent or minimize cognitive impairment in congenital hypothyroidism

A

Early diagnosis

96
Q

Classic findings of congenital hypothyroidism are rare in the early neonatal period due to

A

Placental transfer of maternal thyroid hormone (T4)

97
Q

ETIOLOGY of Congenital Hypothyroidism

A

􏱄 Hereditary 􏱄 Prenatal exposure to radioiodine or antithyroid medications

98
Q

Most common cause of congenital hypothyroidism in the US

A

Thyroid dysgenesis

99
Q

Most frequent form of thyroid dysgenesis

A

Ectopic thyroid

100
Q

___ of thyroid dysgenesis present with aplasia

A

1/3

101
Q

___ of thyroid disease present with ectopic thyroid tissue (lingual) or hypolastic

A

2/3

102
Q

Antibody seen in maternal autoimmune thyroid diseases like Hashimoto thyroiditis

A

Thyrotropin receptor-blocking antibody

103
Q

Congenital hypothyroidism: F:M ratio

A

2:1

104
Q

DOC for congenital hypothyroidism

A

L-thyroxine

105
Q

Low serum total T4 concentration, normal TSH, and normal serum free T4; euthyroid condition, does not require treatment

A

Congenital thyroxine-binding globulin deficiency

106
Q

Most thyroid-dependent brain maturation occurs

A

2-3 years after birth

107
Q

Treatment of congenital hypothyroidism with L-thyroxine provides excellent prognosis for normal intellectual development when initiated within ___

A

1 month or less after birth

108
Q

Earliest sign of congenital hypothyroidism

A

Prolonged jaundice (due to delayed maturation of glucuronide conjugation)

109
Q

MCC of congenital hypothyroidism worldwide

A

Iodine deficiency or endemic goiter

110
Q

Major complication can result from congenital hypothyroidism

A

Cretinism: severe stunted mental & physical growth

111
Q

Anemia seen in congenital hypothyroidism

A

Macrocytic anemia refractory to hematinics

112
Q

MCC of thyroid disease in children

A

Thyroiditis

113
Q

MCC of acquired hypothyroidism

A

Lymphocytic autoimmune thyroiditis (Hashimoto)

114
Q

Predisposed to development of autoimmune thyroiditis

A

Trisomy 21 (Down), Turner

115
Q

Prenatal screening for hypothyroidism in fetus

A

Triple screen test aka Kettering/Bart’s test (2nd trimester; test for chromosomal abnormalities and NTDs; hormones tested are AFP, estriol, and beta HCG)

116
Q

Postnatal diagnosis of Hashimoto

A

1) Serum antithyroid peroxidase (antimicrosomal ab) 2) Antithyroglobulin antibody

117
Q

What is the first clinical manifestation of acquired hypothyroidism

A

Deceleration of growth

118
Q

Disease associated with APS-1

A

Hypothyroidism [HAM syndrome: hypothyroidism, addisons disease, mucocutaneous candidiasis]

119
Q

MEN type IIB or mucosal neuroma syndrome is associated with what disease

A

Pheochromocytoma, medullary thyroid carcinoma

120
Q

NBS is stipulated under

A

RA 9288

121
Q

NBS should be done at

A

48 hours of life (if less than 24 hours, repeat at 2 weeks)

122
Q

Tests included in NBS

A

1) Congenital hypothyroidism 2) Congenital adrenal hyperplasia (CAH) 3) Galactosemia 4) G6PD deficiency 5) PKU

123
Q

Catecholamine-secreting (functional) adrenomedullary tumor of chromaffin tissue

A

PHEOCHROMOCYTOMA

124
Q

Location of tumor of chromaffin tissue

A

􏱄 Adrenal medulla (70%) 􏱄 Extra-adrenal (30%)

125
Q

T/F PHEOCHROMOCYTOMA is usually benign, well encapsulated

A

T

126
Q

Chromaffin tissue tumors rising in the adrenal medulla produce

A

Both epinephrine and norepinephrine

127
Q

Chromaffin tissue tumours that are extra-adrenal produce

A

Only norepinephrine

128
Q

PHEOCHROMOCYTOMA may be seen in what endocrinologic syndromes

A

MEN II (bilateral), von Hippel–Lindau, neurofibro- matosis type I

129
Q

PHEOCHROMOCYTOMA diagnosis

A

Increased urinary catecholamines or metabolites 􏱄 Metanephrine 􏱄 Normetanephrine 􏱄 Vanillylmandelic acid (VMA)

130
Q

PHEOCHROMOCYTOMA treatment

A

Medical (alpha antagonists, eg phenoxybenzamine) OR surgical excision

131
Q

PHEOCHROMOCYTOMA rule

A

Rule of 10 10% malignant 10% bilateral 10% in children 10% familial 10% extra-adrenal

132
Q

Hormone deficiencies in CAH

A

􏱄 21-hydroxylase deficiency (90%) 􏱄 11 β-hydroxylase deficiency 􏱄 3 β-hydroxysteroid dehydrogenase

133
Q

Combination of hyperkalemia and hyponatremia in newborn is a clue to diagnosis of

A

CAH

134
Q

Most urgent tests for congenital adrenal hyperplasia

A
  1. Serum glucose (hypoglycemia) 2. Serum electrolytes
135
Q

Hormone detected to diagnose CAH

A

17 hydroxylase (elevated)

136
Q

In DM presence of __ in position 57 of HLA DQ B-chain protect against autoimmune DM and there is 100 fold risk of having DM if this is absent

A

Aspartic acid

137
Q

Only ___ viral infection is associated with DM in later life

A

Congenital rubella

138
Q

Insulin resistance is a function of

A

Fat mass

139
Q

Seen in 50% adolescent boy ~14 yo; usually asymmetrical, tender, regresses in 6-18 months; ass w/ inc adrenal androgens, more can convert to estradiol

A

Pubertal gynecomastia

140
Q

thyroglobulin synthesis is seen in what wk in the fetal development

A

4 th week

141
Q

what is the recommended dietary allowance of iodine in infants

A

30 ug/kg/day

142
Q

what is the recommended daily allowance of iodine of children

A

90-120 ugkgday

143
Q

what is the recommended dietary allowance of iodine in adolescent and adults

A

150 ugkgday

144
Q

what is the active center of the iodothyronine deiodinase

A

selenocysteine

145
Q

how many percent of T4 is free and how many T3

A

free t4 is 0.03 and t3 is 0.3%

146
Q

what is the characteristic finding in thyroid peroxidase defect and coupling

A

marked decrease in thyroid radioactivity

147
Q

there is goiter, inc tsh, low T4 and thyroidglobulin. what defect?

A

defect in TG synthesis

148
Q

ADHD is associated with thyroid disease

A

thyroid hormone unresponsiveness

149
Q

muscular pseudo hypertrophy of the calf muscles that is rarely seen in congenital hypothyroidism

A

kocher- debre-semelaigne syndrome

150
Q

over treatment of congenital hypothyroidism may increase the risk of

A

Craniosynostosis; temperament problems; pseudotumor cerebri

151
Q

what is the most common cause of congenital thyroidism with or without goiter and most common cause of thyroid disease ( simple goiter)

A

lymphocytic thyroiditis ( hashimotos thyroididtis)

152
Q

what are the most common clinical manifestation of lymphocytic thyroiditis

A

goiter and growth retardation

153
Q

APS-1 causes HAM syndrome. what is the triad

A

Hypothyroidism; addisons disease; mucocutaneous candidiasis

154
Q

APS-2 is called ___ syndrome

A

shmidt

155
Q

pernacious anemia,vitiligo, alopecia; what thyroid disease

A

lymphocytic thyroiditis

156
Q

what organisim is the most common cause of acute suppurative thyroiditis

A

strep viridans; followed by s aureus and pnumococcus

157
Q

de quervain disease is also called ___ is rare in children manifesting as URTI tenderness over the thyroid

A

subacute granulomatous thyroiditis

158
Q

type of endemic cretinism with delayed growth and sexual development; myxedema; absence of goiter

A

myxedematous syndrome

159
Q

toxic multinodular goiter is seen in what syndrome

A

McCune-Albright

160
Q

treatment of graves disease

A

methimazole 0.25mgkgday ; PTU 5-10 mgkgday

161
Q

it is the most effective and curative treatment for hyperthyroidism especially for toxic nodules and multinodualr goiter

A

radioactive iodine

162
Q

it is caused by transplacental passage of TRSAb, affects boy more than girls and has elevated t4 and suppressed TSH

A

congenital hyperthyroidism

163
Q

most common type of thyroid carcinoma

A

Papillary; followed by follicular then meduallary

164
Q

where is the most common metastasis of thyroid ca

A

lungs

165
Q

solitary thyroid nodule producing hyperthyroidism

A

plummer disease

166
Q

it is the late manifestation of MEN II

A

hypercalcemia ( indicating hyperparathyroidism)

167
Q

in DKA what fluid do you give in the 1st hr

A

10-20ml/kg of 0.9 NACl or LR and start insulin at 0.05 -1 u/kg/hr

168
Q

in dka what is the management for the 2nd hr until resolution

A

0.45 nacl and continue insulin drip plus 20meq/L of Kcl

169
Q

in DKA , start D5 containing fluid when the blood glucose is __-

A

less than 250 mg/dL or 14 mmol

170
Q

it is characterized as severe hyperglycemia (blood glucose of >800 mg/dL; absence of ketosis severe dehydration; neurologic signs; frank coma; hemoconcentration

A

non ketotic hyperosmolar coma

171
Q

Most common form of male pseudohermaphroditism

A

Testicular feminization (also referred to as androgen insensitivity syndrome)

172
Q

Patients have ambiguous genitalia until puberty; then, at puberty, increased levels of testosterone cause masculinization of the genitalia.

A

Male pseudohermaphroditism due to 5 alpha-reductase deficiency; 5α-reductase is normally required for conversion of testosterone to dihydrotestosterone