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Flashcards in Endo, Misc + CDB Deck (172):
1

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

DIABETES

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Most common endocrine disorder of the pediatric age group

Diabetes

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HLA-DR3 and -DR4 (chromosome 6)

Insulin dependent DM

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Type I vs Type II DM: Ketosis common

Type I

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Type I vs Type II DM: Hyperosmolar coma

Type II

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Type I vs Type II DM: Impaired glucose tolerance

Type II

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Diagnosis of DM in children

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

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Primary ETIOLOGY of HYPERPITUITARISM

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

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Secondary ETIOLOGY of HYPERPITUITARISM

􏱄 Primary hypogonadism 􏱄 Primary hypoadrenalism 􏱄 Primary hypothyroidism

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Deficiency of more than one pituitary hormone or growth hormone alone

HYPOPITUITARISM

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PANHYPOPITUITARISM in neonates

Hypoglycemia and a micropenis

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Craniopharyngioma, hyper vs hypopituitarism

HYPOPITUITARISM

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Insulin counter-regulatory hormones

GH and cortisol

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Poor linear growth, hypoglycemia

GH deficiency

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HYPOPITUITARISM: LH and FSH deficiency manifests as

pubertal delay

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HYPOPITUITARISM: Treatment

Hormonal replacement

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Prolactin secretion is tonically inhibited by

Dopamine

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􏱄 Headache 􏱄 Amenorrhea 􏱄 Galactorrhea

Prolactinoma

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DI: Acquired, any age

Central

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DI: X-linked recessive, males—early infancy

Nephrogenic

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Toxins that cause nephrogenic DI

Lithium, demeclocycline

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Tumors that can cause central DI

Suprasellar tumors (craniopharyngioma)

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Central vs nephrogenic DI: Polyuria

Both

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Central vs nephrogenic DI: Excessive thirst, enuresis

Central

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

Nephrogenic

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High urine output despite significant dehydration

DI

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

DI

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Treatment for central DI

Fluids, Desmopressin (DDAVP)

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Treatment for nephrogenic DI

Fluids, Thiazide diuretic (paradoxical effect)

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

SIADH

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SIADH is asymptomatic until Na ___

Less than 100

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Urine osmolality ___ excludes diagnosis of SIADH

Less than 100 mOsm/kg

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T/F SIADH presents with edema

F

34

SIADH: Hyponatremia vs hypernatremia

Hyponatremia

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SIADH: Urina Na increased vs decreased

Increased

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Treatment for SIADH if symptomatic

Hypertonic (3%) saline

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Treatment for SIADH if asymptomatic

Fluid restriction

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NORMAL FEMALE PUBERTAL PROGRESSION

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

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NORMAL MALE PUBERTAL PROGRESSION

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

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

T

41

Most normal ___-year-old girls have pubic hair

11

42

Precocious Puberty: Referred to as premature pubic hair development

Adrenarche

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Precocious Puberty etiology, male and female

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

Precocious Puberty etiology, male

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

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

T

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Tanner stages, breast

A image thumb
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Tanner stages, male genital

A image thumb
48

Tanner stages, female and male pubic hair

A image thumb
49

Precocious Puberty etiology, female

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

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

Premature Thelarche

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

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

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

13 years; 14 years

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Delayed Puberty is more common in, males vs females

Males

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Causes of delayed puberty in females

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

55

Causes of delayed puberty in males

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

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

Kallman syndrome

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Pseudohermaphrotidism in females

CAH

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Enzyme deficient in CAH

21-hydroxylase

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

CAH

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Signs and symptoms of CAH

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

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

Pseudohermaphrotidism in males

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Etiology of pseudohermaphrotidism in males

􏱄 Androgen insensitivity 􏱄 Enzyme defects in testosterone synthesis

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SIGNS AND SYMPTOMS of pseudohermaphrotidism in males

􏱄 Small phallus 􏱄 Hypospadias 􏱄 Undescended testes

64

MCC of tall stature

Familial

65

Syndromes associated with tall stature

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

66

Short stature is defined as

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

67

Normally, stature is characterized by

Chronological age = Bone age = Height age

68

Normal growth rate

5cm/year

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MCC of short stature

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

70

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

6 mos and 1 year old

71

In CONSTITUTIONAL short stature, normal growth rate is resumed by

2-3 y/o

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

Familial

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

Constitutional

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

Constitutional

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NUTRITIONAL causes of short stature

􏱄 Irritable bowel disease 􏱄 Celiac disease 􏱄 Anemia

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Endocrine causes of short stature

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

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

GH deficiency; GH stimulation

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

T

79

GH therapy increases the risk of what CA

Leukemia

80

Pathologic causes of short stature

GROWTH HORMONE DEFICIENCY, HYPOTHYROIDISM, CUSHING’S SYNDROME

81

Substances that may be used for GH stimulation test

Insulin, Arginine, GHRH

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Result of GH stimulation test in GROWTH HORMONE DEFICIENCY

Inadequate respons

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GROWTH HORMONE DEFICIENCY Treatment

Biosynthetic human GH

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What inhibits growth in CUSHING’S SYNDROME

Cortisol

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CHROMOSOMAL DISORDERS that cause short stature

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

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Genotype of Noonan

46,XX or 46,XY

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Chromosome affected in Noonan

12

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EPIDEMIOLOGY of Noonan, gender

􏱄 Males = Females

89

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

T

90

Distinguishing features of Noonan

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

91

A slow growth rate regardless of stature

Growth failure

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Short stature that requires diagnostic evaluation

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

Most important factor affecting growth on a worldwide basis

Nutrition

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

Gonadarche

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Crucial to prevent or minimize cognitive impairment in congenital hypothyroidism

Early diagnosis

96

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

Placental transfer of maternal thyroid hormone (T4)

97

ETIOLOGY of Congenital Hypothyroidism

􏱄 Hereditary 􏱄 Prenatal exposure to radioiodine or antithyroid medications

98

Most common cause of congenital hypothyroidism in the US

Thyroid dysgenesis

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Most frequent form of thyroid dysgenesis

Ectopic thyroid

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___ of thyroid dysgenesis present with aplasia

1/3

101

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

2/3

102

Antibody seen in maternal autoimmune thyroid diseases like Hashimoto thyroiditis

Thyrotropin receptor-blocking antibody

103

Congenital hypothyroidism: F:M ratio

2:1

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DOC for congenital hypothyroidism

L-thyroxine

105

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

Congenital thyroxine-binding globulin deficiency

106

Most thyroid-dependent brain maturation occurs

2-3 years after birth

107

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

1 month or less after birth

108

Earliest sign of congenital hypothyroidism

Prolonged jaundice (due to delayed maturation of glucuronide conjugation)

109

MCC of congenital hypothyroidism worldwide

Iodine deficiency or endemic goiter

110

Major complication can result from congenital hypothyroidism

Cretinism: severe stunted mental & physical growth

111

Anemia seen in congenital hypothyroidism

Macrocytic anemia refractory to hematinics

112

MCC of thyroid disease in children

Thyroiditis

113

MCC of acquired hypothyroidism

Lymphocytic autoimmune thyroiditis (Hashimoto)

114

Predisposed to development of autoimmune thyroiditis

Trisomy 21 (Down), Turner

115

Prenatal screening for hypothyroidism in fetus

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

Postnatal diagnosis of Hashimoto

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

117

What is the first clinical manifestation of acquired hypothyroidism

Deceleration of growth

118

Disease associated with APS-1

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

119

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

Pheochromocytoma, medullary thyroid carcinoma

120

NBS is stipulated under

RA 9288

121

NBS should be done at

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

122

Tests included in NBS

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

123

Catecholamine-secreting (functional) adrenomedullary tumor of chromaffin tissue

PHEOCHROMOCYTOMA

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Location of tumor of chromaffin tissue

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

125

T/F PHEOCHROMOCYTOMA is usually benign, well encapsulated

T

126

Chromaffin tissue tumors rising in the adrenal medulla produce

Both epinephrine and norepinephrine

127

Chromaffin tissue tumours that are extra-adrenal produce

Only norepinephrine

128

PHEOCHROMOCYTOMA may be seen in what endocrinologic syndromes

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

129

PHEOCHROMOCYTOMA diagnosis

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

130

PHEOCHROMOCYTOMA treatment

Medical (alpha antagonists, eg phenoxybenzamine) OR surgical excision

131

PHEOCHROMOCYTOMA rule

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

132

Hormone deficiencies in CAH

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

133

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

CAH

134

Most urgent tests for congenital adrenal hyperplasia

1. Serum glucose (hypoglycemia) 2. Serum electrolytes

135

Hormone detected to diagnose CAH

17 hydroxylase (elevated)

136

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

Aspartic acid

137

Only ___ viral infection is associated with DM in later life

Congenital rubella

138

Insulin resistance is a function of

Fat mass

139

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

Pubertal gynecomastia

140

thyroglobulin synthesis is seen in what wk in the fetal development

4 th week

141

what is the recommended dietary allowance of iodine in infants

30 ug/kg/day

142

what is the recommended daily allowance of iodine of children

90-120 ugkgday

143

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

150 ugkgday

144

what is the active center of the iodothyronine deiodinase

selenocysteine

145

how many percent of T4 is free and how many T3

free t4 is 0.03 and t3 is 0.3%

146

what is the characteristic finding in thyroid peroxidase defect and coupling

marked decrease in thyroid radioactivity

147

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

defect in TG synthesis

148

ADHD is associated with thyroid disease

thyroid hormone unresponsiveness

149

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

kocher- debre-semelaigne syndrome

150

over treatment of congenital hypothyroidism may increase the risk of

Craniosynostosis; temperament problems; pseudotumor cerebri

151

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

lymphocytic thyroiditis ( hashimotos thyroididtis)

152

what are the most common clinical manifestation of lymphocytic thyroiditis

goiter and growth retardation

153

APS-1 causes HAM syndrome. what is the triad

Hypothyroidism; addisons disease; mucocutaneous candidiasis

154

APS-2 is called ___ syndrome

shmidt

155

pernacious anemia,vitiligo, alopecia; what thyroid disease

lymphocytic thyroiditis

156

what organisim is the most common cause of acute suppurative thyroiditis

strep viridans; followed by s aureus and pnumococcus

157

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

subacute granulomatous thyroiditis

158

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

myxedematous syndrome

159

toxic multinodular goiter is seen in what syndrome

McCune-Albright

160

treatment of graves disease

methimazole 0.25mgkgday ; PTU 5-10 mgkgday

161

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

radioactive iodine

162

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

congenital hyperthyroidism

163

most common type of thyroid carcinoma

Papillary; followed by follicular then meduallary

164

where is the most common metastasis of thyroid ca

lungs

165

solitary thyroid nodule producing hyperthyroidism

plummer disease

166

it is the late manifestation of MEN II

hypercalcemia ( indicating hyperparathyroidism)

167

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

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

168

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

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

169

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

less than 250 mg/dL or 14 mmol

170

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

non ketotic hyperosmolar coma

171

Most common form of male pseudohermaphroditism

Testicular feminization (also referred to as androgen insensitivity syndrome)

172

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

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