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Pediatrics > Jeopardy 4- Metabolism Endocrine > Flashcards

Jeopardy 4- Metabolism Endocrine Flashcards

1
Q

Inheritance pattern of Fragile X Syndrome

A

Unstable Repeat Sequence

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2
Q

Abnormal 11q of Chromosome 15 from MOM causes

A

Angelman Syndrome

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3
Q

Abnormal 11q of Chromosome 15 from DAD causes

A

Prader-Willi Syndrome

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4
Q

Intrinsically abnormal process that forms abnormal tissue

A

Malformation

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5
Q

Mechanical forces exerted on normal tissue that results in abnormal tissue

A

Deformation

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6
Q

Normal tissue that becomes abnormal after destructive forces

A

Disruption

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7
Q

Collection of seemingly unrelated abnormal features that occur in a familiar pattern

A

Syndrome

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8
Q

Modality to evaluate for fetal abnormalities

A

Ultrasound

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9
Q

High AFP is seen with

A

1) Neural Tube Defects
2) MFG
3) Ventral Abdominal Wall Defects
4) Underestimated GA
5) Fetal Demise

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10
Q

Low AFP is seen with

A

1) Overestimation of GA
2) Trisomy 21 and 18
3) IUGR

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11
Q

Components of the Triple Screen

A

AFP, estriol and B-HCG

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12
Q

High B-HCG and Low AFP/Estriol on Triple Screen suggests

A

Down Syndrome

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13
Q

Low B-HCG, AFP and Estriol on Triple Screen suggests

A

Trisomy 18

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14
Q

When is Chorionic Villus Sampling done

A

10-13 weeks

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15
Q

When is Amniocentesis done

A

16-18 weeks

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16
Q

Method of evaluating fetus for genetic issues that can also be used to give meds/transfusions

A

Percutaneous Umbilical Blood Sampling

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17
Q

Genetics of Marfan Syndrome

A

AD mutation in Fibrillin on Chromosome 15

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18
Q

Tall stature, long extremities, arachnodactyly, joint laxity, pectus excavatum, upward lens subluxation, aortic root dilation, MVP and Aortic Regurgitation

A

Marfan Syndrome

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19
Q

Condition that presents similarly to Marfan

A

Homocystinuria

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20
Q

Decreased Upper/Lower Segment ratio is seen w/

A

Marfan Syndrome

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21
Q

Complications of Marfan Syndrome

A

Endocarditis, Retinal Detachment and Aortic Dissection

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22
Q

Preventative measures for Marfan Syndrome

A

1) BB and avoid contact sports
2) ABX PPX for endocarditis
3) Eye exams

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23
Q

Genetics of Prader Willi Syndrome

A

Genomic imprinting LOSS of PATERNALLY derived Chromosome 15

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24
Q

Almond Shaped Eyes, Fish-like mouth, obesity 2/2 hyperphagia, short stature, mental retardation, hypotonia and hypogonadism

A

Prader Willi Syndrome

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25
Q

Diagnosis of Prader Willi is via

A

FISH

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26
Q

Complications of Prader Willi

A

OSA, Cardiac Disease and T2DM

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27
Q

Genetics of Angelman Syndrome

A

Genomic imprinting LOSS of MATERNALLY derived Chromosome 15

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28
Q

Jerky arm movements, ataxia, inappropriate laughter, mental retardation, small wide head, wide-spaced teeth, tongue protrusion and prognathia

A

Angelman Syndrome

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29
Q

Diagnosis of Angelman Syndrome is via

A

FISH

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30
Q

Genetics of Noonan Syndrome

A

Sporadic or AD mutation on Chromosome 12

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31
Q

Short, shield-like chest, webbed neck, low hairline, hypertelorism, down slanting palpebral fissures, low set ears and RIGHT SIDED heart defects (Pulm Stenosis)

A

Noonan Syndrome

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32
Q

Genetics of DiGeorge Syndrome and Velocardiofacial Syndrome

A

Deletion at 22q11; sporadic or AD mutation on Chromosome 22

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33
Q

DiGeorge Syndrome affects structures from

A

3rd and 4th Pharyngeal Pouches

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34
Q

Short palpebral fissures, small chin, ear defects, aortic arch abnormalities, VSD, Tetralogy of Fallot, Thymic and Hypothyroid Hypoplasia (defects in Cell Mediated Immunity and severe hypocalcemia)

A

DiGeorge Syndrome

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35
Q

Diagnosis of DiGeorge Syndrome is via

A

FISH

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36
Q

Complications of DiGeorge

A

Infections and Seizures

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37
Q

Cleft palate, wide nose, short chin, fish-shaped mouth, VSD, Right Sided Aortic Arch, Hypotonia and learning disability

A

Velocardiofacial Syndrome

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38
Q

Genetics of Ehlers-Danlos Syndrome

A

AD Defective Type V Collagen

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39
Q

Hyperextensible joints, dislocations, scoliosis, MVP, aortic root dilatation, constipation, rectal prolapse and hernias

A

Ehlers Danlos Syndrome

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40
Q

Complications of Ehlers-Danlos Syndrome

A

Aortic Dissection and GI Bleeding

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41
Q

Path of Osteogenesis Imprefecta

A

Abnormal Type I Collagen

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42
Q

Blue sclera, fragile bones, genu valgum, yellow/gray teeth, easy bruisability

A

Osteogenesis Imprefecta

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43
Q

Complications of Osteogenesis Imprefecta

A

Conductive hearing loss and skeletal deformaties

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44
Q

VACTERL clinical features

A 
V-ertebral defects
A-nal atresia
C-ardiac anomalies (VSD)
T-racheo E-sophageal fistula
R-enal and genital anomalies
L-imb defects (radial hypoplasia, polydactyly)
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45
Q

CHARGE clinical features

A

C-olobomas (defect of ocular tissue- retina)
H-eart defects (Tetralogy of Fallot)
A-tresia of the nasal choanae
R-etardation
G-enital anomalies (hypoplasia)
E-ar anomalies (cup shaped and hearing loss)

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46
Q

Genetics of Williams Syndrome

A

AD deletion of elastin gene on Chromosome 7

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47
Q

Elfin facies, mental retardation, loquacious personality, supravalvular aortic stenosis, hypercalcemia and CT abnormalities

A

Williams Syndrome

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48
Q

Single eyebrow (synophrys), SGA, microcephaly, micrognathia, hypertonia, MR, small hands and feet, cardiac defects and autistic/self-destructive tendencies

A

Cornelia de Lange (Brachmann-de Lange) Syndrome

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49
Q

Small triangular face, normal head circumference, short stature, limb asymmetry, Café-au-lait spots and excessive sweating

A

Russell-Silver Syndrome

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50
Q

Micrognathia, cleft lip, large protruding tongue

A

Pierre Robin Syndrome

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51
Q

Syndrome associated w/ recurrent Otitis Media and Upper Airway Obstruction (may require tracheostomy)

A

Pierre Robin Syndrome

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52
Q

Genetics of Cri du chat Syndrome

A

Partial deletion of short arm of chromosome 5

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53
Q

Microcephaly, MR, hypertelorism and cat-like cry

A

Cri du chat Syndrome

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54
Q

MOST COMMON trisomy

A

Down Syndrome

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55
Q

Incidence of Down Syndrome

A

1:660

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56
Q

Trisomy more common in females

A

Trisomy 18

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57
Q

MR, hypertonia, small facies, clenched hands w/ overlapping digits and rocker bottom feet

A

Trisomy 18

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58
Q

Midline defects, holoprosencephaly, MR, microphthalmia, cleft lip and palate

A

Trisomy 13

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59
Q

Specific clinical features of Down Syndrome

A

Face: Epicanthal skin folds, up slanting palpebral fissure, Brushfield spots, protruding tongue
General- hypotonia, MR
MSK- Single palmar crease
GI- Duodenal atresia, Hirschsprungs, pyloric stenosis and omphalocele
Cardiac- VSD/ASD

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60
Q

Complications of Down Syndrome

A

1) Atlantoaxial C-spine instability
2) Leukemia
3) Celiac Disease
4) Early Alzheimers
5) OSA
6) Conductive Hearing loss
7) Hypothyroidism
8) Cataracts and Glaucoma

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61
Q

Disease caused by only one X in females

A

Turner Syndrome

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62
Q

Incidence of Turner Syndrome

A

1:2000

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63
Q

Short, webbed neck, shield chest, congenital lymphedema, ovarian dysgenesis, coarctation of aorta, bicuspid aortic valve and hypothyroidism

A

Turner Syndrome

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64
Q

Genetics of Fragile X Syndrome

A

X Chromosome CGG repeat disorder that follows principle of anticipation

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65
Q

MOST COMMON cause of inherited MR

A

Fragile X

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66
Q

Incidence of Fragile X

A

Males: 1:1250
Females: 1:2500

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67
Q

MR, large ears, blue irides, macrocephaly, large testes and behavioral issues

A

Fragile X

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68
Q

MOST COMMON cause of male hypogonadism

A

Klinefelter Syndrome

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69
Q

Genetics of Klinefelter Syndrome

A

XXY

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70
Q

Incidence of Klinefelter Syndrome

A

1:500

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71
Q

Tall, long extremities, hypogonadism, gynecomastia, behavioral changes

A

Klinefelter Syndrome

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72
Q

Rhizomelia

A

Proximal long bone abnormalities

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73
Q

Mesomelia

A

Medial long bone abnormalities

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74
Q

Acromelia

A

Distal abnormalities

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75
Q

Spondylodysplasias

A

Abnormalities of the spine

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76
Q

MOST COMMON skeletal dysplasia

A

Achondroplasia

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77
Q

Genetics of Achondroplasia

A

Sporadic&raquo_space; AD mutation in FGFR3 associated w/ advanced paternal age

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78
Q

Megalencephaly (big brain), foramen magnum stenosis, frontal bossing, kyphosis –> lordosis, rhizomelic limb shortening, trident shaped hands, recurrent OM w/ hearing loss

A

Achondroplasia

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79
Q

Diagnosis of Achondroplasia

A

X-rays showing rhizomelic limb shortening

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80
Q

Complications of Achondroplasia

A

1) Hydrocephalus and spinal cord compression (FM stenosis)
2) OSA
3) Genu Varum and back pain

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81
Q

Early signs of spinal cord compression

A

Head sweating and dilated facial veins

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82
Q

Conditions causing Potter Syndrome

A

Bilateral renal agenesis, polycystic kidneys, obstructive uropathy

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83
Q

Limb scarring and amputation is caused by

A

Amniotic Band Syndrome

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84
Q

MOST COMMON teratogen

A

Alcohol

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85
Q

SGA, microcephaly, smooth philtrum w/ small upper lip, MR and VSD

A

Fetal Alcohol Syndrome

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86
Q

Wide anterior fontanelle, thick hair, small nails, cardiac defects, MR

A

Fetal Phenytoin Syndrome

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87
Q

SGA and polycythemia

A

Cigarette smoking

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88
Q

IUGR, microcephaly, GU anomalies

A

Cocaine

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89
Q

Risk of cervical CA and GU anomalies

A

DES

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90
Q

CNS malformation, microtia, cardiac defects and thymic hypoplasia

A

Isotretinoin

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91
Q

Hypothyroidism and goiter

A

Propylthiouracil

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92
Q

Malformed extremities that resemble flippers

A

Thalidomide

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93
Q

Narrow head, high forehead, face hypoplasia, spin bifid a, cardiac defects and convex nails

A

Valproic Acid

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94
Q

Hypoplastic nose, hypoplastic nails, stippling of epiphyses

A

Warfarin

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95
Q

Multifactorial inheritance deformaties

A

Cleft lip/palate, NTD (most common CNS), congenital heart disease

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96
Q

Folic Acid dose to prevent NTDs

A

400-800 ug/day

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97
Q

Incidence of inborn errors of metabolism

A

1:5000

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98
Q

Initial evaluation for IEM is looking for

A

1) Metabolic Acidosis

2) Hyperammonemia

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99
Q

Correction of acidosis

A

Sodium Bicarbonate

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100
Q

Drugs that increase ammonia excretion

A

Sodium Benzoate and Sodium Phenylacetate

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101
Q

Drugs that prevent bacterial production of ammonia in colon

A

Oral Neosporin and Lactulose

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102
Q

Genetics of Homocystinuria

A

AR

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103
Q

Path of Homocystinuria

A

Cystathionine Synthase Deficiency

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104
Q

Marfan-like body habitus w/o arachnodactyly, downward subluxation of lens, hypercoagulable state, Mitral or Aortic Regurgitation, Scoliosis and large stiff joints, MR

A

Homocystinuria

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105
Q

Increased Methionine in urine and + Urinary Cyanide Nitroprusside Test

A

Homocystinuria

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106
Q

Management of homocystinuria

A

1) Methionine Restricted Diet
2) Aspirin
3) Folic Acid
4) B6

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107
Q

Cause of transient tyrosinemia of the newborn

A

High protein diet in a premature infant

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108
Q

Diagnosis of transient tyrosinemia of the newborn

A

Elevated tyrosine and phenylalanine in serum

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109
Q

Management of transient tyrosinemia of the newborn

A

Decrease protein intake and Vit C

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110
Q

MR, hypotonia, musty body odor, eczema and decreased pigment

A

Phenylketonuria

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111
Q

Diagnosis of Phenylketonuria

A

Elevated Phe:Tyrosine ratio

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112
Q

Management of Phenylketonuria

A

Phe restricted diet

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113
Q

When must Phe-restricted diet be begun to avoid neuro symptoms/MR in phenylketonuria

A

By 1 month

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114
Q

Inheritance of PKU, Maple Syrup Urine Disease and Tyrisonemia

A

AR

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115
Q

Vomiting, poor feeding, hypotonia, coma, MR, maple syrup odor to urine, hypoglycemia and acidosis

A

Maple Syrup Urine Disease

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116
Q

Diagnosis of Maple Syrup Urine Disease

A

Increased serum and urine branched AAs

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117
Q

Neuro sx of Maple Syrup Urine Disease may be avoided if

A

Protein restriction by 2 weeks

118
Q

Peripheral neuropathy, liver disease, rotten fish/cabbage odor and renal dysfunction

A

Tyrosinemia

119
Q

Diagnosis of Tyrosinemia is by

A

Succinylacetone in urine

120
Q

Management of Tyrisonemia is

A

Restriction of Phe, Tyrosine, NTBC and liver transplant

121
Q

Tyrosinemia increases risk of

A

Hepatocellular cancer and cirrhosis

122
Q

AR defect in the reabsorption of Cystine, Lysine, Arginine and Ornithine

A

Cystinuria

123
Q

Symptoms of Cystinuria

A

Kidney Stones. Dysuria, UTIs, Back Pain

124
Q

Defect in the reabsorption of neutral amino acids

A

Hartnup Disease

125
Q

Ataxia, Photosensitive Rash, MR and emotional liability

A

Hartnup Disease

126
Q

Respiratory distress, alkalosis, vomiting and lethargy in a premature infant

A

Transient Hyperammonemia of the Newborn

127
Q

Most common urea cycle defect

A

Ornithine Transcarbamylase Deficiency

128
Q

Vomiting, lethargy, coma at the onset of protein ingestion

A

Ornithine Transcarbamylase Deficiency

129
Q

Diagnosis of Ornithine Transcarbamylase Deficiency is via

A

Elevated Orotic Acid, Decreased serum citrulline and Elevated Ornithine

130
Q

Path of Galactosemia

A

AR defect in Galactose-1 Phosphate Uridyltransferase

131
Q

Hepatomegaly and hypoglycemia in a newborn

A

Galactosemia

132
Q

Vomiting, diarrhea, FTT, hepatomegaly, RTA and oil-drop cataracts after consuming breast milk or cow’s milk formula

A

Galactosemia

133
Q

Diagnosis of Galactosemia is based on

A

Nonglucose-reducing substances in urine tested by Clinitest followed by confirmation of enzyme deficiency

134
Q

Complications of Galactosemia

A

Females- ovarian failure

Death via E. coli sepsis

135
Q

Hypoglycemia, vomiting, seizures and FTT after introduction to fruit/juice

A

Hereditary Fructose Intolerance

136
Q

Path of fructose intolerance

A

Fructose-1-Phosphate Aldolase B deficiency

137
Q

Organomegaly and Metabolic Acidosis suggests

A

Glycogen Storage Diseases

138
Q

Deficiency in Glucose 6 Phosphatase

A

Von Gierke’s Disease

139
Q

Hypoglycemia, hepatomegaly, metabolic acidosis, hypertriglyceridemia and enlarged kidneys

A

Von Gierke’s Disease

140
Q

Von Gierke’s Disease increases the risk for

A

Hepatocellular Carcinoma

141
Q

Deficiency in alpha-glucosidase

A

Pompe’s Disease

142
Q

Weakness, poor feeding, cardiomegaly, hepatomegaly and acidosis

A

Pompe’s Disease

143
Q

Non-ketotic hypoglycemia, hyperammonemia, myopathy and cardiomyopathy are seen with

A

Fatty Acid Oxidation Defects

144
Q

MOST COMMON fatty acid oxidation disorder

A

Medium Chain Acyl-CoA Dehydrogenase

145
Q

Diagnosis of Fatty Acid Oxidation Defects

A

Tandem Mass Spec

146
Q

Management of FA Oxidation Defects

A

Frequent feeding w/ high carb diet, Carnitine Supplementation

147
Q

When to suspect mitochondrial disorders

A

1) Common disease w/ atypical presentation

2) 3+ organ involvement

148
Q

How are mitochondrial disorders diagnosed

A

Tissue biopsy revealing abnormal mitochondria

149
Q

Ophthalmoplegia, pigmentary degeneration of the retina, hearing loss, heart block and neurologic degeneration

A

Kearns-Sayre Syndrome

150
Q

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

A

MELAS

151
Q

Hexosaminidase A Deficiency

A

Tay Sachs Disease

152
Q

Weakness, decreased eye contact, hyperacusis, macrocephaly, cherry red macula, developmental delay

A

Tay Sachs Disease

153
Q

Diagnosis of Tay Sachs is

A

Decreased Hexosaminidase A activity in leukocytes or fibroblasts

154
Q

Glucocerebrosidase Deficiency

A

Gaucher’s Disease

155
Q

HSM, thrombocytopenia, Erlenmeyer Flask-shape to distal femur

A

Gaucher’s Disease

156
Q

Sphingomyelinase Deficiency

A

Niemann-Pick Disease

157
Q

Neurodegeneration, ataxia, seizures, HSM and cherry red macula by 6 months

A

Niemann-Pick Disease

158
Q

Arylsulfatase A Deficiency

A

Metachromatic Leukodystrophy

159
Q

Progressive neurodegenerative disorder w/ ataxia, seizures and MR

A

Metachromatic Leukodystrophy

160
Q

Common clinical findings of mucopolysaccharidoses

A

Organomegaly, short stature, MR, Dysostosis Multiplex

161
Q

MOST SEVERE mucopolysaccharidoses caused by defect in alpha-L-iduronidase

A

Hurler Syndrome

162
Q

HSM, Kyphosis, coarse facial features, MR and corneal clouding after 1 year

A

Hurler Syndrome

163
Q

Treatment of Hurler Syndrome

A

Bone Marrow Transplant

164
Q

Genetic inheritance of Hunter Syndrome

A

X-linked Recessive

165
Q

HSM, hearing loss, dysostosis multiplex and NO corneal clouding

A

Hunter Syndrome

166
Q

Mucopolysaccharidoses without MR but with severe scoliosis leading to cor pulmonale

A

Morquio Syndrome

167
Q

Drugs which may trigger flares in Acute Intermittent Porphyria

A

Alcohol, Sulfa and OCPs

168
Q

Photosensitivity, Personality changes, weakness, colicky abdominal pain, N/V/D, autonomic instability, and dark-red urine

A

Acute Intermittent Porphyria

169
Q

Diagnosis of Acute Intermittent Porphyria is via

A

Increased serum and urine porphobilinogen

170
Q

Kayser Fleischer Rings, Neuro symptoms and hepatic dysfunction

A

Wilson’s Disease

171
Q

Diagnosis of Wilson’s Disease is by

A

Low Ceruloplasmin and high serum copper

172
Q

Treatment of Wilsons Disease

A

Chelation therapy w/ Penicillamine

173
Q

Kayser Fleischer Rings are copper deposits located

A

In Descemet’s Membrane

174
Q

Low Serum Copper and Low Ceruloplasmin + kinky pale hair + optic nerve atrophy and MR

A

Menkes Kinky Hair Disease

175
Q

Definition of short stature

A

2 Standard Deviations below the mean (under 3rd percentile)

176
Q

Definition of Pathologic Short Stature

A

3 Standard Deviations below the mean w/ suboptimal growth velocity

177
Q

Normal Growth Velocity

A

2in/year from 3-puberty

178
Q

Calculation for Male Mid-Parental Height

A

Father + (Mother + 5) / 2

179
Q

Calculation for Female Mid-Parental Height

A

(Father - 5) + Mother / 2

180
Q

Drugs that can lead to short stature

A

Steroids and Stimulants

181
Q

Normal Upper:Lower Segment Ratio at birth, 3yrs and 7yrs

A

Birth- 1.7
3- 1.3
7- 1

182
Q

Short Stature + Normal Growth Velocity

A

Normal Variant Short Stature

183
Q

What are the 2 types of Normal Variant Short Stature

A

1) Familial Short Stature

2) Constitutional Growth Delay

184
Q

How is Constitutional Delay differentiated from Familial Short Stature

A

Constitutional Delay has DELAYED BONE AGE and late onset puberty

185
Q

Two Sub-types of pathologic short stature

A

Proportional and Disproportionate

186
Q

What are the causes of Prenatal Onset Proportionate Short Stature

A

1) Environmental Exposures
2) Chromosomal Defects
3) Genetic Syndromes
4) Viral Infxn (CMV)

187
Q

Malnutrition, psychosocial causes and chronic heart, lung, GI, renal or endocrine diseases may cause

A

Postnatal Onset Proportionate Short Stature

188
Q

Causes of disproportionate pathologic short stature

A

Rickets and Skeletal Dysplasia (achondroplasia)

189
Q

Frontal bossing, bow legs, low serum Phosphorus, High Alk Phosphatase

A

Rickets

190
Q

Indirect test for Growth Hormone

A

IGF-1

191
Q

Bone Age is determine by

A

AP Film of the Left wrist and hand

192
Q

Poor growth velocity, cherubic facies, obesity, microphallus, cryptorchidism, midline defects (cleft lip) and h/o prolonged neonatal jaundice

A

Growth Hormone Deficiency

193
Q

What must be ruled out in GH Deficiency

A

Brain Tumors (Craniopharyngioma)

194
Q

Diagnosis of GH Deficiency

A

1) Delayed Bone Age
2) Poor response to GH stimulation testing (L-dopa, glucagon and clonidine)
3) Low IGF-1

195
Q

Positive antithyroid peroxidase antibodies

A

Hashimoto’s Thyroiditis

196
Q

MOST COMMON cause of hypothyroidism

A

Hashimoto’s

197
Q

Poor growth, weight gain, stretch marks, dorsal neck pad and h/o steroid use

A

Hypercortisolism

198
Q

Female puberty begins at

A

7-13

199
Q

First sign of female puberty is

A

Breast Buds

200
Q

Order of female puberty

A

Thelarche –> Adrenarche –> Menarche

201
Q

Male puberty begins at

A

9-14

202
Q

First sign of male puberty

A

Testicular enlargement

203
Q

Definition of Precocious Puberty

A

Males- Puberty before 9

Females- Menarche by 9 or Thelarche/Adrenarche by 7

204
Q

Central Precocious Puberty

A

Early onset of Gonadotropin-mediated (FSH/LH) Puberty at an earlier age than normal

205
Q

Central Precocious Puberty is likely idiopathic in

A

Girls

206
Q

Precocious Puberty + poor growth and delayed bone age

A

Hypothyroidism

207
Q

Best test for premature activation of the hypothalamus

A

GnRH Stimulation Test

208
Q

Expected Results of GnRH Stimulation Test

A

CPP- Big increase in LH

Normal or Peripheral Precocious Puberty- No increase in LH

209
Q

Causes of PPP in males that result in enlarged testicles

A

1) McCune-Albright Syndrome
2) Testotoxicosis
3) B-HCG Secreting Tumor

210
Q

Polyostotic Fibrous Dysplasia + Café-au-lait Spots + PPP or other Endocrinopathies

A

McCune-Albright Syndrome

211
Q

Definitions for Delayed Puberty

A

Boys- No testicular enlargement by 14

Girls- No menses by 14 or breast tissue by 13

212
Q

High FSH, High LH and Low Testosterone and Low Estradiol

A

Hypergonadotropic Hypogonadism

213
Q

Low FSH, LH, Testosterone and Estradiol

A

Hypogonadotropic Hypogonadism

214
Q

Gonadotropin deficiency + anosmia

A

Kallman Syndrome

215
Q

Obesity, retinitis pigmentosa, hypogonadism and polysyndactyly

A

Lawrence-Moon-Biedl Syndrome

216
Q

Causes of Hypergonadotropic Hypogonasidm in boys and girls

A

Boys- Klinefelter Syndrome (XXY)

Girls- Turner Syndrome (X)

217
Q

Summary of male genital development

A

Presence of SRY Gene –> Fetal Testes –> Sertoli and Leydig Cells

Sertoli Cells –> AMH –> Degeneration of Müllerian Structures (Fallopian tubes, uterus, upper 1/3 vagina)

Leydig Cells –> Testosterone –> Wolffian Ducts (Epididymis, Vas Deferens and Seminal Vesicles)….. and Testosterone –> DHT –> Virilization of External Genetalia

218
Q

When does the SRY lead to the formation of testes

A

Week 9

219
Q

Summary of female genital development

A

No SRY –> Ovaries form

No AMH –> Retention of Müllerian Structures (Fallopian Tubes, Uterus and Upper 1/3 vagina)

No Testosterone –> No virilization of external genetalia and regression of Wolffian Structures

220
Q

3 Causes of the undervirilized male (Pseudohermaphrodite) w/ 46 XY and 1 or more palpable gonads

A

1) Partial Androgen Insensitivity
2) Inborn Errors in Testosterone Synthesis
3) Gonadal Intersex (Mixed Gonadal Dysgenesis or True Hermaphrodite)

221
Q

3 Causes of the virilized female w/ ambiguous genetalia (pseudohermaphrodite) w/ 46 XX

A

1) 21 Hydroxylase Deficiency
2) Virilizing drugs used by mom
3) Virilizing tumor in mom during pregnancy

222
Q

Region of Adrenal gland that produces steroids

A

Adrenal Cortex

223
Q

Region of the Adrenal Gland that produces catecholamines

A

Adrenal Medulla

224
Q

Glucocorticoids and Androgens are regulated by

A

ACTH

225
Q

Mineralocorticoids are regulated by

A

RAAS

226
Q

Problem at the adrenal gland is termed

A

Primary Adrenal Insufficiency

227
Q

Weakness, hypotension, pigmentation, FTT, hyponatremia, HYPERKALEMIA

A

Primary Adrenal Insufficiency

228
Q

Causes of Primary Adrenal Insufficiency

A

Addison’s Disease, CAH, Adrenoleukodystrophy

229
Q

Problem with the production of CRH or ACTH

A

Secondary Adrenal Insufficiency

230
Q

How can Secondary Adrenal Insufficiency be differentiated from Primary

A

No hyperkalemia

231
Q

Causes of Secondary Adrenal Insufficiency

A

Pituitary Tumors, Craniopharyngioma, Langerhans Cell Histiocytosis and Iatrogenic (STEROIDS)

232
Q

MOST COMMON cause of ambiguous genetalia when no gonads are palpable

A

CAH

233
Q

Inheritance of CAH

A

AR

234
Q

Ambiguous Genetalia/Virilization + HYPERTENSION and HYPOKALEMIA

A

11B-Hydroxylase Deficiency

235
Q

Ambiguous genetalia, FTT, vomiting and electrolyte abnormalities

A

Classic Salt Wasting CAH (21-Hydroxylase)

236
Q

Ambiguous genetalia in girls (birth) and virilization in boys (1-4 yrs)

A

Simple Virilizing CAH (21-Hydroxylase)

237
Q

Girls w/ premature adrenarche, cliteromegaly, acne and hirsutism… Boys w/ premature adrenarche, growth and acne

A

Nonclassic CAH (21-Hydroxylase)

238
Q

Salt wasting crisis, ambiguous genetalia and glucocorticoid deficiency

A

3B-Hydroxysteroid Dehydrogenase Deficiency

239
Q

Increased 17-Hydroxyprogesterone levels are seen w/

A

21-Hydroxylase Deficiency

240
Q

Increased 11-Deoxycortisol is seen w/

A

11B-Hydroxylase Deficiency

241
Q

Increased DHEA and 17-hydroxypregnenolone levels are seen w/

A

3B-Hydroxysteroid Dehydrogenase Deficiency

242
Q

Autoimmune destruction of the adrenal gland w/ lymphocytic infiltration

A

Addisons Disease

243
Q

Hashimoto Thyroiditis + T1DM + Adrenal Insufficiency

A

Type I Polyglandular Syndrome

244
Q

Hypoparathyroidism + Chronic Mucocutaneous Candadiasis + Adrenal Insufficiency

A

Type II Polyglandular Syndrome

245
Q

Cortisol > 20ug/dL during stress OR less than 2x increase in cortisol in response to ACTH suggests

A

Adrenal Insufficiency

246
Q

Prompt treatment of Adrenal Crisis needs

A

IVF w/ 5% Dextrose in NS and PO Steroids

247
Q

Major causes of hypercortisolism

A

1) Iatrogenic (STEROIDS)
2) Cushing Syndrome (Adrenal Tumor)
3) Cushing Disease (ACTH producing Pituitary Tumor)

248
Q

Lab findings w/ Cushings

A

1) High Cortisol in 24hr urine

2) NO SUPPRESSION of cortisol w/ overnight Dexamethasone Suppression Test

249
Q

Epidemiology of DM

A

1:500

250
Q

Genetics seen with T1DM

A

HLA DR3 or DR4

251
Q

Viral infections implicated in T1DM

A

Coxsackie and Rubella

252
Q

Antibodies seen w/ T1DM

A

Islet Cell Antibodies (85%)
Anti-Insulin
Anti-Glutamic Acid Decarboxylase

253
Q

DKA is the initial presentation in

A

25%

254
Q

Evening insulin is TOO HIGH causing hypoglycemia in the very early morning –> so they release Epi and glucagon –> Hyperglycemia in the morning (REBOUND HYPERGLYCEMIA)

A

Somogyi Phenomenon (decrease pm insulin)

255
Q

Microvascular complications of DM include

A

Retinopathy, Nephropathy and Neuropathy

256
Q

Dehydration, Abdominal Pain, Kussmaul Breathing (rapid, deep) and Coma

A

DKA

257
Q

Labs in DKA

A

1) Glucose > 300
2) Anion Gap Metabolic Acidosis
3) Ketonemia
4) Hyperkalemia

258
Q

Management of DKA

A

IVF and Insulin

259
Q

Complications of DKA

A

1) Cerebral Edema (Glucose drop > 100/hr)
2) Hypokalemia
3) Hypocalcemia

260
Q

Suboptimal growth, goiter, myxedema and amenorrhea

A

Hypothyroidism

261
Q

MOST COMMON congenital metabolic disorder

A

Congenital Hypothyroidism

262
Q

MOST COMMON cause of hypothyroidism in newborn

A

Thyroid Dysgenesis

263
Q

Thyroid organification defect + sensorineural hearing loss

A

Pendred Syndrome

264
Q

Large fontanelles, protruding tongue, hernia, myxedema, hypothermia and delayed neural development

A

Congenital Hypothyroidism

265
Q

AI lymphocytic infiltration of the thyroid gland

A

Hashimoto’s

266
Q

Antibody w/ Hashimoto’s

A

Thyroid Antiperoxidase Antibody

267
Q

MOST COMMON cause of hyperthyroidism in childhood

A

Graves Disease

268
Q

Antibody produced in Graves

A

Thyroid-Stimulating Immunoglobulin

269
Q

PTH stimulates what enzyme to convert Vit D to 1,25 (OH) Vit D

A

1 alpha hydroxylase

270
Q

Main source of Ca

A

GI Tract

271
Q

Symptoms of Hypocalcemia

A

Tetany and Seizures

272
Q

Electrolyte abnormality that may cause hypocalcemia

A

Hypomagnesemia

273
Q

Causes of neonatal hypocalcemia

A

1) Hypoparathyroidism
2) DiGeorge
3) Hyperphosphatemia

274
Q

Low Ca and High Phosphorus in a neonate

A

Hypoparathyroidism

275
Q

Short stature, short metacarpals and developmental delay w/ hypocalcemia and high PTH

A

Pseudohypoparathyroidism

276
Q

Hypocalcemia w/ low phosphorus suggests

A

Vitamin D Deficiency

277
Q

Hypocalcemia ECG

A

Prolonged QT

278
Q

Risk factors for Rickets

A

Breastfed Infants, AEDs and Renal/Hepatic Failure

279
Q

Enzyme deficiency in 1alpha-Hydroxylase causes

A

Vitamin-D Dependent Rickets

280
Q

Lab Findings in Vitamin D Dependent Rickets

A

Increased PTH, Low Vit D, Low Calcium, Low Phosphorus and high alkaline phosphatase

281
Q

X linked dominant condition caused by renal tubular leakage of Phosphorus

A

Vitamin D-Resistent Rickets

282
Q

MOST COMMON form of Rickets

A

Vitamin D-Resistent Rickets

283
Q

Bones affected by rickets

A

Wrist, knees and ribs

284
Q

Short, Rachitic Rosary (prominent costochondral jxn), Craniotabes and Frontal Bossing

A

Rickets

285
Q

Where is ADH synthesized

A

Synthesized in hypothalamic nuclei and transported via axons to Posterior Pituitary

286
Q

Causes of Central DI (No ADH being made)

A

AI, trauma, hypothalamic tumors, LANGERHANS CELL HISTIOCYTOSIS, Granulomatous Disease, Aneurysms

287
Q

Inheritance of Nephrogenic DI (does not respond to ADH)

A

X-Linked Recessive

288
Q

Specific Gravity greater than __ rules out DI

A

1.018

289
Q

Describe the Water Deprivation Test

A

Patient is deprived of water and serum osmolarity goes up… IF URINE OUTPUT is consistent or URINE OSMOLARITY stays low –> they have Diabetes Insipidus

At the end of the test give them ADH… if they do not respond –> NEPHROGENIC DI

290
Q

Treatment for Central DI

A

DDAVP

291
Q

Persistent neonatal hypoglycemia lasts

A

> 3 days

292
Q

MOST COMMON cause of hypoglycemia in 1-6y/o

A

Ketotic Hypoglycemia

Pediatrics (4 decks)

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