Jeopardy 4- Metabolism Endocrine Flashcards
1
Q
Inheritance pattern of Fragile X Syndrome
A
Unstable Repeat Sequence
2
Q
Abnormal 11q of Chromosome 15 from MOM causes
A
Angelman Syndrome
3
Q
Abnormal 11q of Chromosome 15 from DAD causes
A
Prader-Willi Syndrome
4
Q
Intrinsically abnormal process that forms abnormal tissue
A
Malformation
5
Q
Mechanical forces exerted on normal tissue that results in abnormal tissue
A
Deformation
6
Q
Normal tissue that becomes abnormal after destructive forces
A
Disruption
7
Q
Collection of seemingly unrelated abnormal features that occur in a familiar pattern
A
Syndrome
8
Q
Modality to evaluate for fetal abnormalities
A
Ultrasound
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
10
Q
Low AFP is seen with
A
1) Overestimation of GA
2) Trisomy 21 and 18
3) IUGR
11
Q
Components of the Triple Screen
A
AFP, estriol and B-HCG
12
Q
High B-HCG and Low AFP/Estriol on Triple Screen suggests
A
Down Syndrome
13
Q
Low B-HCG, AFP and Estriol on Triple Screen suggests
A
Trisomy 18
14
Q
When is Chorionic Villus Sampling done
A
10-13 weeks
15
Q
When is Amniocentesis done
A
16-18 weeks
16
Q
Method of evaluating fetus for genetic issues that can also be used to give meds/transfusions
A
Percutaneous Umbilical Blood Sampling
17
Q
Genetics of Marfan Syndrome
A
AD mutation in Fibrillin on Chromosome 15
18
Q
Tall stature, long extremities, arachnodactyly, joint laxity, pectus excavatum, upward lens subluxation, aortic root dilation, MVP and Aortic Regurgitation
A
Marfan Syndrome
19
Q
Condition that presents similarly to Marfan
A
Homocystinuria
20
Q
Decreased Upper/Lower Segment ratio is seen w/
A
Marfan Syndrome
21
Q
Complications of Marfan Syndrome
A
Endocarditis, Retinal Detachment and Aortic Dissection
22
Q
Preventative measures for Marfan Syndrome
A
1) BB and avoid contact sports
2) ABX PPX for endocarditis
3) Eye exams
23
Q
Genetics of Prader Willi Syndrome
A
Genomic imprinting LOSS of PATERNALLY derived Chromosome 15
24
Q
Almond Shaped Eyes, Fish-like mouth, obesity 2/2 hyperphagia, short stature, mental retardation, hypotonia and hypogonadism
A
Prader Willi Syndrome
25
Diagnosis of Prader Willi is via
FISH
26
Complications of Prader Willi
OSA, Cardiac Disease and T2DM
27
Genetics of Angelman Syndrome
Genomic imprinting LOSS of MATERNALLY derived Chromosome 15
28
Jerky arm movements, ataxia, inappropriate laughter, mental retardation, small wide head, wide-spaced teeth, tongue protrusion and prognathia
Angelman Syndrome
29
Diagnosis of Angelman Syndrome is via
FISH
30
Genetics of Noonan Syndrome
Sporadic or AD mutation on Chromosome 12
31
Short, shield-like chest, webbed neck, low hairline, hypertelorism, down slanting palpebral fissures, low set ears and RIGHT SIDED heart defects (Pulm Stenosis)
Noonan Syndrome
32
Genetics of DiGeorge Syndrome and Velocardiofacial Syndrome
Deletion at 22q11; sporadic or AD mutation on Chromosome 22
33
DiGeorge Syndrome affects structures from
3rd and 4th Pharyngeal Pouches
34
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)
DiGeorge Syndrome
35
Diagnosis of DiGeorge Syndrome is via
FISH
36
Complications of DiGeorge
Infections and Seizures
37
Cleft palate, wide nose, short chin, fish-shaped mouth, VSD, Right Sided Aortic Arch, Hypotonia and learning disability
Velocardiofacial Syndrome
38
Genetics of Ehlers-Danlos Syndrome
AD Defective Type V Collagen
39
Hyperextensible joints, dislocations, scoliosis, MVP, aortic root dilatation, constipation, rectal prolapse and hernias
Ehlers Danlos Syndrome
40
Complications of Ehlers-Danlos Syndrome
Aortic Dissection and GI Bleeding
41
Path of Osteogenesis Imprefecta
Abnormal Type I Collagen
42
Blue sclera, fragile bones, genu valgum, yellow/gray teeth, easy bruisability
Osteogenesis Imprefecta
43
Complications of Osteogenesis Imprefecta
Conductive hearing loss and skeletal deformaties
44
VACTERL clinical features
```
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)
```
45
CHARGE clinical features
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)
46
Genetics of Williams Syndrome
AD deletion of elastin gene on Chromosome 7
47
Elfin facies, mental retardation, loquacious personality, supravalvular aortic stenosis, hypercalcemia and CT abnormalities
Williams Syndrome
48
Single eyebrow (synophrys), SGA, microcephaly, micrognathia, hypertonia, MR, small hands and feet, cardiac defects and autistic/self-destructive tendencies
Cornelia de Lange (Brachmann-de Lange) Syndrome
49
Small triangular face, normal head circumference, short stature, limb asymmetry, Café-au-lait spots and excessive sweating
Russell-Silver Syndrome
50
Micrognathia, cleft lip, large protruding tongue
Pierre Robin Syndrome
51
Syndrome associated w/ recurrent Otitis Media and Upper Airway Obstruction (may require tracheostomy)
Pierre Robin Syndrome
52
Genetics of Cri du chat Syndrome
Partial deletion of short arm of chromosome 5
53
Microcephaly, MR, hypertelorism and cat-like cry
Cri du chat Syndrome
54
MOST COMMON trisomy
Down Syndrome
55
Incidence of Down Syndrome
1:660
56
Trisomy more common in females
Trisomy 18
57
MR, hypertonia, small facies, clenched hands w/ overlapping digits and rocker bottom feet
Trisomy 18
58
Midline defects, holoprosencephaly, MR, microphthalmia, cleft lip and palate
Trisomy 13
59
Specific clinical features of Down Syndrome
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
60
Complications of Down Syndrome
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
61
Disease caused by only one X in females
Turner Syndrome
62
Incidence of Turner Syndrome
1:2000
63
Short, webbed neck, shield chest, congenital lymphedema, ovarian dysgenesis, coarctation of aorta, bicuspid aortic valve and hypothyroidism
Turner Syndrome
64
Genetics of Fragile X Syndrome
X Chromosome CGG repeat disorder that follows principle of anticipation
65
MOST COMMON cause of inherited MR
Fragile X
66
Incidence of Fragile X
Males: 1:1250
Females: 1:2500
67
MR, large ears, blue irides, macrocephaly, large testes and behavioral issues
Fragile X
68
MOST COMMON cause of male hypogonadism
Klinefelter Syndrome
69
Genetics of Klinefelter Syndrome
XXY
70
Incidence of Klinefelter Syndrome
1:500
71
Tall, long extremities, hypogonadism, gynecomastia, behavioral changes
Klinefelter Syndrome
72
Rhizomelia
Proximal long bone abnormalities
73
Mesomelia
Medial long bone abnormalities
74
Acromelia
Distal abnormalities
75
Spondylodysplasias
Abnormalities of the spine
76
MOST COMMON skeletal dysplasia
Achondroplasia
77
Genetics of Achondroplasia
Sporadic >> AD mutation in FGFR3 associated w/ advanced paternal age
78
Megalencephaly (big brain), foramen magnum stenosis, frontal bossing, kyphosis --> lordosis, rhizomelic limb shortening, trident shaped hands, recurrent OM w/ hearing loss
Achondroplasia
79
Diagnosis of Achondroplasia
X-rays showing rhizomelic limb shortening
80
Complications of Achondroplasia
1) Hydrocephalus and spinal cord compression (FM stenosis)
2) OSA
3) Genu Varum and back pain
81
Early signs of spinal cord compression
Head sweating and dilated facial veins
82
Conditions causing Potter Syndrome
Bilateral renal agenesis, polycystic kidneys, obstructive uropathy
83
Limb scarring and amputation is caused by
Amniotic Band Syndrome
84
MOST COMMON teratogen
Alcohol
85
SGA, microcephaly, smooth philtrum w/ small upper lip, MR and VSD
Fetal Alcohol Syndrome
86
Wide anterior fontanelle, thick hair, small nails, cardiac defects, MR
Fetal Phenytoin Syndrome
87
SGA and polycythemia
Cigarette smoking
88
IUGR, microcephaly, GU anomalies
Cocaine
89
Risk of cervical CA and GU anomalies
DES
90
CNS malformation, microtia, cardiac defects and thymic hypoplasia
Isotretinoin
91
Hypothyroidism and goiter
Propylthiouracil
92
Malformed extremities that resemble flippers
Thalidomide
93
Narrow head, high forehead, face hypoplasia, spin bifid a, cardiac defects and convex nails
Valproic Acid
94
Hypoplastic nose, hypoplastic nails, stippling of epiphyses
Warfarin
95
Multifactorial inheritance deformaties
Cleft lip/palate, NTD (most common CNS), congenital heart disease
96
Folic Acid dose to prevent NTDs
400-800 ug/day
97
Incidence of inborn errors of metabolism
1:5000
98
Initial evaluation for IEM is looking for
1) Metabolic Acidosis
| 2) Hyperammonemia
99
Correction of acidosis
Sodium Bicarbonate
100
Drugs that increase ammonia excretion
Sodium Benzoate and Sodium Phenylacetate
101
Drugs that prevent bacterial production of ammonia in colon
Oral Neosporin and Lactulose
102
Genetics of Homocystinuria
AR
103
Path of Homocystinuria
Cystathionine Synthase Deficiency
104
Marfan-like body habitus w/o arachnodactyly, downward subluxation of lens, hypercoagulable state, Mitral or Aortic Regurgitation, Scoliosis and large stiff joints, MR
Homocystinuria
105
Increased Methionine in urine and + Urinary Cyanide Nitroprusside Test
Homocystinuria
106
Management of homocystinuria
1) Methionine Restricted Diet
2) Aspirin
3) Folic Acid
4) B6
107
Cause of transient tyrosinemia of the newborn
High protein diet in a premature infant
108
Diagnosis of transient tyrosinemia of the newborn
Elevated tyrosine and phenylalanine in serum
109
Management of transient tyrosinemia of the newborn
Decrease protein intake and Vit C
110
MR, hypotonia, musty body odor, eczema and decreased pigment
Phenylketonuria
111
Diagnosis of Phenylketonuria
Elevated Phe:Tyrosine ratio
112
Management of Phenylketonuria
Phe restricted diet
113
When must Phe-restricted diet be begun to avoid neuro symptoms/MR in phenylketonuria
By 1 month
114
Inheritance of PKU, Maple Syrup Urine Disease and Tyrisonemia
AR
115
Vomiting, poor feeding, hypotonia, coma, MR, maple syrup odor to urine, hypoglycemia and acidosis
Maple Syrup Urine Disease
116
Diagnosis of Maple Syrup Urine Disease
Increased serum and urine branched AAs
117
Neuro sx of Maple Syrup Urine Disease may be avoided if
Protein restriction by 2 weeks
118
Peripheral neuropathy, liver disease, rotten fish/cabbage odor and renal dysfunction
Tyrosinemia
119
Diagnosis of Tyrosinemia is by
Succinylacetone in urine
120
Management of Tyrisonemia is
Restriction of Phe, Tyrosine, NTBC and liver transplant
121
Tyrosinemia increases risk of
Hepatocellular cancer and cirrhosis
122
AR defect in the reabsorption of Cystine, Lysine, Arginine and Ornithine
Cystinuria
123
Symptoms of Cystinuria
Kidney Stones. Dysuria, UTIs, Back Pain
124
Defect in the reabsorption of neutral amino acids
Hartnup Disease
125
Ataxia, Photosensitive Rash, MR and emotional liability
Hartnup Disease
126
Respiratory distress, alkalosis, vomiting and lethargy in a premature infant
Transient Hyperammonemia of the Newborn
127
Most common urea cycle defect
Ornithine Transcarbamylase Deficiency
128
Vomiting, lethargy, coma at the onset of protein ingestion
Ornithine Transcarbamylase Deficiency
129
Diagnosis of Ornithine Transcarbamylase Deficiency is via
Elevated Orotic Acid, Decreased serum citrulline and Elevated Ornithine
130
Path of Galactosemia
AR defect in Galactose-1 Phosphate Uridyltransferase
131
Hepatomegaly and hypoglycemia in a newborn
Galactosemia
132
Vomiting, diarrhea, FTT, hepatomegaly, RTA and oil-drop cataracts after consuming breast milk or cow's milk formula
Galactosemia
133
Diagnosis of Galactosemia is based on
Nonglucose-reducing substances in urine tested by Clinitest followed by confirmation of enzyme deficiency
134
Complications of Galactosemia
Females- ovarian failure
| Death via E. coli sepsis
135
Hypoglycemia, vomiting, seizures and FTT after introduction to fruit/juice
Hereditary Fructose Intolerance
136
Path of fructose intolerance
Fructose-1-Phosphate Aldolase B deficiency
137
Organomegaly and Metabolic Acidosis suggests
Glycogen Storage Diseases
138
Deficiency in Glucose 6 Phosphatase
Von Gierke's Disease
139
Hypoglycemia, hepatomegaly, metabolic acidosis, hypertriglyceridemia and enlarged kidneys
Von Gierke's Disease
140
Von Gierke's Disease increases the risk for
Hepatocellular Carcinoma
141
Deficiency in alpha-glucosidase
Pompe's Disease
142
Weakness, poor feeding, cardiomegaly, hepatomegaly and acidosis
Pompe's Disease
143
Non-ketotic hypoglycemia, hyperammonemia, myopathy and cardiomyopathy are seen with
Fatty Acid Oxidation Defects
144
MOST COMMON fatty acid oxidation disorder
Medium Chain Acyl-CoA Dehydrogenase
145
Diagnosis of Fatty Acid Oxidation Defects
Tandem Mass Spec
146
Management of FA Oxidation Defects
Frequent feeding w/ high carb diet, Carnitine Supplementation
147
When to suspect mitochondrial disorders
1) Common disease w/ atypical presentation
| 2) 3+ organ involvement
148
How are mitochondrial disorders diagnosed
Tissue biopsy revealing abnormal mitochondria
149
Ophthalmoplegia, pigmentary degeneration of the retina, hearing loss, heart block and neurologic degeneration
Kearns-Sayre Syndrome
150
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes
MELAS
151
Hexosaminidase A Deficiency
Tay Sachs Disease
152
Weakness, decreased eye contact, hyperacusis, macrocephaly, cherry red macula, developmental delay
Tay Sachs Disease
153
Diagnosis of Tay Sachs is
Decreased Hexosaminidase A activity in leukocytes or fibroblasts
154
Glucocerebrosidase Deficiency
Gaucher's Disease
155
HSM, thrombocytopenia, Erlenmeyer Flask-shape to distal femur
Gaucher's Disease
156
Sphingomyelinase Deficiency
Niemann-Pick Disease
157
Neurodegeneration, ataxia, seizures, HSM and cherry red macula by 6 months
Niemann-Pick Disease
158
Arylsulfatase A Deficiency
Metachromatic Leukodystrophy
159
Progressive neurodegenerative disorder w/ ataxia, seizures and MR
Metachromatic Leukodystrophy
160
Common clinical findings of mucopolysaccharidoses
Organomegaly, short stature, MR, Dysostosis Multiplex
161
MOST SEVERE mucopolysaccharidoses caused by defect in alpha-L-iduronidase
Hurler Syndrome
162
HSM, Kyphosis, coarse facial features, MR and corneal clouding after 1 year
Hurler Syndrome
163
Treatment of Hurler Syndrome
Bone Marrow Transplant
164
Genetic inheritance of Hunter Syndrome
X-linked Recessive
165
HSM, hearing loss, dysostosis multiplex and NO corneal clouding
Hunter Syndrome
166
Mucopolysaccharidoses without MR but with severe scoliosis leading to cor pulmonale
Morquio Syndrome
167
Drugs which may trigger flares in Acute Intermittent Porphyria
Alcohol, Sulfa and OCPs
168
Photosensitivity, Personality changes, weakness, colicky abdominal pain, N/V/D, autonomic instability, and dark-red urine
Acute Intermittent Porphyria
169
Diagnosis of Acute Intermittent Porphyria is via
Increased serum and urine porphobilinogen
170
Kayser Fleischer Rings, Neuro symptoms and hepatic dysfunction
Wilson's Disease
171
Diagnosis of Wilson's Disease is by
Low Ceruloplasmin and high serum copper
172
Treatment of Wilsons Disease
Chelation therapy w/ Penicillamine
173
Kayser Fleischer Rings are copper deposits located
In Descemet's Membrane
174
Low Serum Copper and Low Ceruloplasmin + kinky pale hair + optic nerve atrophy and MR
Menkes Kinky Hair Disease
175
Definition of short stature
2 Standard Deviations below the mean (under 3rd percentile)
176
Definition of Pathologic Short Stature
3 Standard Deviations below the mean w/ suboptimal growth velocity
177
Normal Growth Velocity
2in/year from 3-puberty
178
Calculation for Male Mid-Parental Height
Father + (Mother + 5) / 2
179
Calculation for Female Mid-Parental Height
(Father - 5) + Mother / 2
180
Drugs that can lead to short stature
Steroids and Stimulants
181
Normal Upper:Lower Segment Ratio at birth, 3yrs and 7yrs
Birth- 1.7
3- 1.3
7- 1
182
Short Stature + Normal Growth Velocity
Normal Variant Short Stature
183
What are the 2 types of Normal Variant Short Stature
1) Familial Short Stature
| 2) Constitutional Growth Delay
184
How is Constitutional Delay differentiated from Familial Short Stature
Constitutional Delay has DELAYED BONE AGE and late onset puberty
185
Two Sub-types of pathologic short stature
Proportional and Disproportionate
186
What are the causes of Prenatal Onset Proportionate Short Stature
1) Environmental Exposures
2) Chromosomal Defects
3) Genetic Syndromes
4) Viral Infxn (CMV)
187
Malnutrition, psychosocial causes and chronic heart, lung, GI, renal or endocrine diseases may cause
Postnatal Onset Proportionate Short Stature
188
Causes of disproportionate pathologic short stature
Rickets and Skeletal Dysplasia (achondroplasia)
189
Frontal bossing, bow legs, low serum Phosphorus, High Alk Phosphatase
Rickets
190
Indirect test for Growth Hormone
IGF-1
191
Bone Age is determine by
AP Film of the Left wrist and hand
192
Poor growth velocity, cherubic facies, obesity, microphallus, cryptorchidism, midline defects (cleft lip) and h/o prolonged neonatal jaundice
Growth Hormone Deficiency
193
What must be ruled out in GH Deficiency
Brain Tumors (Craniopharyngioma)
194
Diagnosis of GH Deficiency
1) Delayed Bone Age
2) Poor response to GH stimulation testing (L-dopa, glucagon and clonidine)
3) Low IGF-1
195
Positive antithyroid peroxidase antibodies
Hashimoto's Thyroiditis
196
MOST COMMON cause of hypothyroidism
Hashimoto's
197
Poor growth, weight gain, stretch marks, dorsal neck pad and h/o steroid use
Hypercortisolism
198
Female puberty begins at
7-13
199
First sign of female puberty is
Breast Buds
200
Order of female puberty
Thelarche --> Adrenarche --> Menarche
201
Male puberty begins at
9-14
202
First sign of male puberty
Testicular enlargement
203
Definition of Precocious Puberty
Males- Puberty before 9
| Females- Menarche by 9 or Thelarche/Adrenarche by 7
204
Central Precocious Puberty
Early onset of Gonadotropin-mediated (FSH/LH) Puberty at an earlier age than normal
205
Central Precocious Puberty is likely idiopathic in
Girls
206
Precocious Puberty + poor growth and delayed bone age
Hypothyroidism
207
Best test for premature activation of the hypothalamus
GnRH Stimulation Test
208
Expected Results of GnRH Stimulation Test
CPP- Big increase in LH
| Normal or Peripheral Precocious Puberty- No increase in LH
209
Causes of PPP in males that result in enlarged testicles
1) McCune-Albright Syndrome
2) Testotoxicosis
3) B-HCG Secreting Tumor
210
Polyostotic Fibrous Dysplasia + Café-au-lait Spots + PPP or other Endocrinopathies
McCune-Albright Syndrome
211
Definitions for Delayed Puberty
Boys- No testicular enlargement by 14
| Girls- No menses by 14 or breast tissue by 13
212
High FSH, High LH and Low Testosterone and Low Estradiol
Hypergonadotropic Hypogonadism
213
Low FSH, LH, Testosterone and Estradiol
Hypogonadotropic Hypogonadism
214
Gonadotropin deficiency + anosmia
Kallman Syndrome
215
Obesity, retinitis pigmentosa, hypogonadism and polysyndactyly
Lawrence-Moon-Biedl Syndrome
216
Causes of Hypergonadotropic Hypogonasidm in boys and girls
Boys- Klinefelter Syndrome (XXY)
| Girls- Turner Syndrome (X)
217
Summary of male genital development
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
When does the SRY lead to the formation of testes
Week 9
219
Summary of female genital development
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
3 Causes of the undervirilized male (Pseudohermaphrodite) w/ 46 XY and 1 or more palpable gonads
1) Partial Androgen Insensitivity
2) Inborn Errors in Testosterone Synthesis
3) Gonadal Intersex (Mixed Gonadal Dysgenesis or True Hermaphrodite)
221
3 Causes of the virilized female w/ ambiguous genetalia (pseudohermaphrodite) w/ 46 XX
1) 21 Hydroxylase Deficiency
2) Virilizing drugs used by mom
3) Virilizing tumor in mom during pregnancy
222
Region of Adrenal gland that produces steroids
Adrenal Cortex
223
Region of the Adrenal Gland that produces catecholamines
Adrenal Medulla
224
Glucocorticoids and Androgens are regulated by
ACTH
225
Mineralocorticoids are regulated by
RAAS
226
Problem at the adrenal gland is termed
Primary Adrenal Insufficiency
227
Weakness, hypotension, pigmentation, FTT, hyponatremia, HYPERKALEMIA
Primary Adrenal Insufficiency
228
Causes of Primary Adrenal Insufficiency
Addison's Disease, CAH, Adrenoleukodystrophy
229
Problem with the production of CRH or ACTH
Secondary Adrenal Insufficiency
230
How can Secondary Adrenal Insufficiency be differentiated from Primary
No hyperkalemia
231
Causes of Secondary Adrenal Insufficiency
Pituitary Tumors, Craniopharyngioma, Langerhans Cell Histiocytosis and Iatrogenic (STEROIDS)
232
MOST COMMON cause of ambiguous genetalia when no gonads are palpable
CAH
233
Inheritance of CAH
AR
234
Ambiguous Genetalia/Virilization + HYPERTENSION and HYPOKALEMIA
11B-Hydroxylase Deficiency
235
Ambiguous genetalia, FTT, vomiting and electrolyte abnormalities
Classic Salt Wasting CAH (21-Hydroxylase)
236
Ambiguous genetalia in girls (birth) and virilization in boys (1-4 yrs)
Simple Virilizing CAH (21-Hydroxylase)
237
Girls w/ premature adrenarche, cliteromegaly, acne and hirsutism... Boys w/ premature adrenarche, growth and acne
Nonclassic CAH (21-Hydroxylase)
238
Salt wasting crisis, ambiguous genetalia and glucocorticoid deficiency
3B-Hydroxysteroid Dehydrogenase Deficiency
239
Increased 17-Hydroxyprogesterone levels are seen w/
21-Hydroxylase Deficiency
240
Increased 11-Deoxycortisol is seen w/
11B-Hydroxylase Deficiency
241
Increased DHEA and 17-hydroxypregnenolone levels are seen w/
3B-Hydroxysteroid Dehydrogenase Deficiency
242
Autoimmune destruction of the adrenal gland w/ lymphocytic infiltration
Addisons Disease
243
Hashimoto Thyroiditis + T1DM + Adrenal Insufficiency
Type I Polyglandular Syndrome
244
Hypoparathyroidism + Chronic Mucocutaneous Candadiasis + Adrenal Insufficiency
Type II Polyglandular Syndrome
245
Cortisol > 20ug/dL during stress OR less than 2x increase in cortisol in response to ACTH suggests
Adrenal Insufficiency
246
Prompt treatment of Adrenal Crisis needs
IVF w/ 5% Dextrose in NS and PO Steroids
247
Major causes of hypercortisolism
1) Iatrogenic (STEROIDS)
2) Cushing Syndrome (Adrenal Tumor)
3) Cushing Disease (ACTH producing Pituitary Tumor)
248
Lab findings w/ Cushings
1) High Cortisol in 24hr urine
| 2) NO SUPPRESSION of cortisol w/ overnight Dexamethasone Suppression Test
249
Epidemiology of DM
1:500
250
Genetics seen with T1DM
HLA DR3 or DR4
251
Viral infections implicated in T1DM
Coxsackie and Rubella
252
Antibodies seen w/ T1DM
Islet Cell Antibodies (85%)
Anti-Insulin
Anti-Glutamic Acid Decarboxylase
253
DKA is the initial presentation in
25%
254
Evening insulin is TOO HIGH causing hypoglycemia in the very early morning --> so they release Epi and glucagon --> Hyperglycemia in the morning (REBOUND HYPERGLYCEMIA)
Somogyi Phenomenon (decrease pm insulin)
255
Microvascular complications of DM include
Retinopathy, Nephropathy and Neuropathy
256
Dehydration, Abdominal Pain, Kussmaul Breathing (rapid, deep) and Coma
DKA
257
Labs in DKA
1) Glucose > 300
2) Anion Gap Metabolic Acidosis
3) Ketonemia
4) Hyperkalemia
258
Management of DKA
IVF and Insulin
259
Complications of DKA
1) Cerebral Edema (Glucose drop > 100/hr)
2) Hypokalemia
3) Hypocalcemia
260
Suboptimal growth, goiter, myxedema and amenorrhea
Hypothyroidism
261
MOST COMMON congenital metabolic disorder
Congenital Hypothyroidism
262
MOST COMMON cause of hypothyroidism in newborn
Thyroid Dysgenesis
263
Thyroid organification defect + sensorineural hearing loss
Pendred Syndrome
264
Large fontanelles, protruding tongue, hernia, myxedema, hypothermia and delayed neural development
Congenital Hypothyroidism
265
AI lymphocytic infiltration of the thyroid gland
Hashimoto's
266
Antibody w/ Hashimoto's
Thyroid Antiperoxidase Antibody
267
MOST COMMON cause of hyperthyroidism in childhood
Graves Disease
268
Antibody produced in Graves
Thyroid-Stimulating Immunoglobulin
269
PTH stimulates what enzyme to convert Vit D to 1,25 (OH) Vit D
1 alpha hydroxylase
270
Main source of Ca
GI Tract
271
Symptoms of Hypocalcemia
Tetany and Seizures
272
Electrolyte abnormality that may cause hypocalcemia
Hypomagnesemia
273
Causes of neonatal hypocalcemia
1) Hypoparathyroidism
2) DiGeorge
3) Hyperphosphatemia
274
Low Ca and High Phosphorus in a neonate
Hypoparathyroidism
275
Short stature, short metacarpals and developmental delay w/ hypocalcemia and high PTH
Pseudohypoparathyroidism
276
Hypocalcemia w/ low phosphorus suggests
Vitamin D Deficiency
277
Hypocalcemia ECG
Prolonged QT
278
Risk factors for Rickets
Breastfed Infants, AEDs and Renal/Hepatic Failure
279
Enzyme deficiency in 1alpha-Hydroxylase causes
Vitamin-D Dependent Rickets
280
Lab Findings in Vitamin D Dependent Rickets
Increased PTH, Low Vit D, Low Calcium, Low Phosphorus and high alkaline phosphatase
281
X linked dominant condition caused by renal tubular leakage of Phosphorus
Vitamin D-Resistent Rickets
282
MOST COMMON form of Rickets
Vitamin D-Resistent Rickets
283
Bones affected by rickets
Wrist, knees and ribs
284
Short, Rachitic Rosary (prominent costochondral jxn), Craniotabes and Frontal Bossing
Rickets
285
Where is ADH synthesized
Synthesized in hypothalamic nuclei and transported via axons to Posterior Pituitary
286
Causes of Central DI (No ADH being made)
AI, trauma, hypothalamic tumors, LANGERHANS CELL HISTIOCYTOSIS, Granulomatous Disease, Aneurysms
287
Inheritance of Nephrogenic DI (does not respond to ADH)
X-Linked Recessive
288
Specific Gravity greater than __ rules out DI
1.018
289
Describe the Water Deprivation Test
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
Treatment for Central DI
DDAVP
291
Persistent neonatal hypoglycemia lasts
>3 days
292
MOST COMMON cause of hypoglycemia in 1-6y/o
Ketotic Hypoglycemia
