5.6.2013(pediatric Endocrinology) 28 Flashcards
(119 cards)
0
Q
Causes of female pseudohermaphroditism
A
Maternal virilising tumor-Arrhenoblastoma
CAH
maternal medications with androgen
1
Q
Most common cause of ambiguous genitalia in a new born
A
21-alpha hydroxylase deficiency
2
Q
CAH with MPH
A
17A OH deficiency
17,20 lyase
Star protein defect
3
Q
CAH with FPH
A
21A OH
11B OH
4
Q
CAH with MPH and FPH
A
3B OH (only a weak androgen DHEA is formed) POR(P450 oxide reductase deficiency) any enzyme defect can occur
5
Q
CAH with salt retention/HT
A
11B OH (deoxycortisol) 17A OH
6
Q
CAH with salt wasting
A
21A OH
3B HSD
star protein defect
7
Q
Causes of male pseudohermaphroditism
A
5alpha reductase 17 hydroxylase Gonadal dysgenesis 20-22 desmolase 17-ketosteroid reductase deficiency(androstenedione to testosterone) Reifenstein syndrome#
8
Q
Difference between 5alpha reductase deficiency and AIS
A
Levels of testosterone and dihydrotestosterone normal in AIS
9
Q
Most common sign in Kennedy disease
A
Postpubertal gynacomastia
10
Q
CAIS
A
Testicular feminization
Morris
Goldberg maxwell
11
Q
PAIS
A
Reifenstein
Rosewater
Lub
Gilbert dreifus
12
Q
MAIS
A
Aiman
13
Q
Congenital lipoid adrenal hyperplasia
A
Star protein defect(transports cholesterol across inner mitochondrial membrane)
14
Q
Electrolyte abnormalities in CAH
A
Hypoglycaemia
Hyponatremia
Hypokalemia
Hyperkalemia
15
Q
Prophylaxis of CAH
A
Dexamethasone administered as soon as pregnancy is diagnosed
16
Q
Appearance of menarche before ____________ yrs is considered precocious
A
10yrs
17
Q
Tumors of CNS causing precocious puberty
A
Pineal
Optic glioma
Ependymoma
Craniopharyngioma
18
Q
Congenital anomalies of CNS causing precocious puberty
A
Hypothalamic hamartoma
Hydrocephalus
Porencephaly
Arachnoid cyst
19
Q
Acquired CNS lesions causing precocious puberty
A
HYPOTHYROIDISM inflammation Granuloma Trauma Surgery Radiation Chemotherapy
20
Q
Ovarian cause of isosexual precocious puberty
A
Mccune Albright syndrome
Benign follicular cysts
Granulosa the a cell tumor
Gonadablastoma
21
Q
Isosexual precocious puberty in girls
A
Exogenous estrogen administration
Feminising adrenal neoplasia
SCTAT-Peutz jegher(sex cord tumor with annular tubules)
22
Q
Isosexual precocious puberty in males
A
Testis: Leydig cell tumor Adrenal rest tumor Testotoxicosis Adrenal cause hCG secreting tumor: Hepatoma Hepatoblastoma Choriocarcinomas Chorionepithelioma Teratomas Dysgerminoma Exogenous testosterone
23
Q
Heterosexual precocity in males
A
Marijuana
SCTAT-peutz jegher
24
Delayed puberty
| Age
>14yrs in boys
| Absence of breast budding >13 yrs in girls
25
Most common cause of delayed puberty
Constitutional delay
26
Syndromes with gonadotropin deficiency
Kallmann
Prader willi
Laurence moon biedl
Froehlich
27
Condition that can cause both precocious and delayed puberty
Hypothyroidism
Precocious seen in juvenile form
28
Syndromes causing hyper gonadotropin hypogonadism
Turner
Noonan
Klinefelter
29
Dwarfism in hypothyroidism
Disproportionate
| US>LS
30
Mental retardation with normal size head
Juvenile hypothyroidism
31
Diff btw congenital and acquired hypothyroidism
Sexual precocity
| Mental retardation in congenital form
32
Hercules syndrome
Kocher debre semelaigne syndrome
33
X ray findings of hypothyroidism
```
Delayed appearance of epiphysis(absent lower femoral epiphysis at birth)
Epiphyseal dysgenesis- multiple foci of ossification
Epiphyseal BEAKING of T12,L1,L2 vertebra
Skull:
Large fontanelle
Wide sutures
Wormian bones
Enlarged and rounded sella turcica
Delayed dentition
```
34
Types of endemic cretinism
Neurological syndrome
| Myxedematous syndrome
35
Most common form of thyroid dysgenesis
Ectopic gland
36
Diagnosis of congenital hypothyroidism
Heelpad blood on fourth day of birth
37
Cause of neurological cretinism
Both maternal and fetal hypothyroxinemia
38
Features of neurological cretinism
```
Goitre
Euthyroid
Severe MR
deaf mutism
Squint
Spastic diplegia
Brisk reflexes
Doesn't improve with thyroid replacement
```
39
Features of Myxedematous cretinism
```
Less severe CNS features
Hypothyroid
Delayed reflexes
Improves with thyroxine
Peripheral features are prominent
```
40
Goitre in congenital hyperthyroidism
Almost always present
41
Bone age
Height age
Chronological age
In familial short stature
Height age
42
Bone age
Height age
Chronological age
Constitutional short stature
Height age=bone age
43
Advanced Bone age Is seen in
CAH
44
Clinical features of GH deficiency
```
Proportionate short stature
Truncal obesity with abundant subcutaneous fat
HA
45
Birth weight and height is low in
Familial short stature and turner
| IGF1 deficiency
46
Diff btw familial and constitutional short stature
Normal epiphyseal development
Normal puberty
In familial
47
Weak giants
Pituitary adenoma
48
First hormone to be replaced in a child presenting with hypopitutarism
1. Cortisone
| 2. GH
49
Appropriate age of correction of undescended testis
6months
No later than 9-15 months
50
Most common disorder of sexual differentiation in boys
Cryptorchidism
51
Complications of undescended testis
Infertility
Malignancy-commonly seminoma
Torsion
Associated hernia
52
Earliest sign of Cushing syndrome
Loss of diurnal variation
53
Time of day with high cortisol
Morning 8AM
Decreased to less than 50% by midnight
54
Adrenal gland in familial glucocorticoid deficiency
Well preserved zona glomerulosa with
| Atrophy of other two layers
55
Wolfram syndrome
Diabetes insipidus
Diabetes mellitus
Optic atrophy
Deafness
56
Most common cause of young onset diabetes in India
1. Protein deficient diabetes mellitus
| 2. Fibrocalculus pancreatic diabetes
57
Malnutrition related diabetes mellitus
Protein deficient DM
| fibrocalcific pancreatopathy
58
Dose of glucose in OGTT in children
1.75gm/kg
59
Ophthalmic evaluation in IDDM
After 5 years of diagnosis
60
Nesidioblastosis
Persistent hyperinsulinemic hypoglycaemia of infancy
61
Cause of nesidioblastosis
Beta cell hypertrophy in infant of diabetic mother
62
DES exposure in utero
Adenosis of vagina and cervix
Clear cell adenocarcinoma
Malformation of uterus and vagina
63
Mode of inheritance of idiopathic hypercalciuria
Autosomal dominant
64
Hypercalciuria
24hr urinary calcium >4mg/kg
65
Screening test for idiopathic hypercalciuria
Urinary Ca to creat conc>0.2
In normal infant it may be as high as 0.8
66
Normal phosphate level
3-4.5mg/dl
67
Familial hypercalcemic hypercalciuria
Ca sensing receptor defect
68
Hyperparathyroidism,age
Rare before 20yrs
69
Diff btw primary hypercalcemic hypocalciuria and hyperparathyroidism
Alkaline phosphatase is normal
Urine calcium is low in
Familial hypercalcemic hypocalciuria
70
Drugs used in nesidioblastosis
```
IV glucose
Diazoxide
Octreotide
Glucagon
Nifedipine
```
71
Ambiguous genitalia is seen in
Mixed gonadal dysgenesis
72
Rx of thyrotoxicosis in children
Anti thyroid drugs
73
Most common presentation of neonatal hypoparathyroidism
Musculoskeletal pain and cramps
74
Laurence moon biedl
Obesity
Hypogonadism
Polydactyly
75
Most common congenital anomaly of oesophagus
Oesophageal atresia
76
VACTERL
```
Vertebral
Anorectal
Cardiac
TEF
renal
Radial
Abnormalities
```
77
Most important sign in TEF
Drooling of saliva from mouth of infant
78
Most common type of TEF
Upper end blind
| Lower end communicates with trachea
79
Investigation of choice in TEF
X ray chest and abdomen with red rubber catheter passed per orally into esophagus
80
Age of presentation of CHPS
3wks(2wks-5months)
81
Pathology in CHPS
Hypertrophy of circular muscle fibres of pylorus
82
CHPS more common in
First born males
| Blood group B and O
83
Associated abnormalities of CHPS
TEF
agenesis of inferior labial frenulum
Unconjugated hyperbilirubinemia in 5% of pts
```
May be associated with turner,trisomy 18
Apert
Smith lemliopitz
Cornelia de Lange
Zellweger
```
84
Metabolic abnormality in CHPS
Hypochloremic metabolic alkalosis
85
Compensation in CHPS
Paradoxical aciduria with hyponatremia and hypochloremia
86
Contrast appearance of CHPS
Shoulder sign- bulge of pyloric muscle into Antrum
| Double tract sign- parallel streak of barium in narrowed channel
87
Criteria for diagnosis of CHPS
Thickness>4mm
Length>14mm
(nelson)
88
Aganglionic segment in hirschprung disease
Distal to dilated segment
89
Defect in hirschprung
Absence of both myenteric and meissner plexus
90
Histological findings in hirschprung
Absence of ganglion cells
| Thickening and hypertrophy of nerve trunk
91
Structure always affected in hirschprung
Rectum
92
Manometry in hirschprung
Paradoxical increase in pressure with rectal distension
93
Most common cause of neonatal intestinal obstruction
1. Meconium plug syndrome
| 2. duodenal atresia
94
Meconium plug syndrome is seen in
```
Maternal DM
Maternal preeclampsia
Prematurity
Sepsis
Hypothyroidism
hirschprung
```
95
Most common cause of intestinal obstruction in infants
Intusucception
| 3 months to 6 yrs of age
96
Most important cause of abdominal distension in intestinal obstruction
Swallowed air
97
Best investigation in a child with suspected perforation and volvulus neonatorum
Plain X ray
98
Meconium passage in volvulus neonatorum
Normal
| No symptoms for first two days
99
Most common type of intusucception
Ileocolic
100
Intusucception is common in
Males
101
Recipient bowel in intusucception
Intussuscipiens
Telescoping bowel - intusucceptus
102
Shape of mass in CHPS and intusucception
Olive in CHPS,in epigastrium
SAUSAGE shaped in intusucception..with long axis cephalocaudal
in rt hypochondrium
103
Direction of ulcer in Crohn
Linear along the axis of bowel(serpentine in shape)
104
A newborn with NEC staabilised on ventilator,poor general condition.next step
Peritoneal drainage by putting drains in flanks
105
Most common presentation of meckel diverticulum
Painless rectal bleeding
106
Steatorrhea
Fecal fat >7gm/day
107
Increased nitrogen in stools
Azotorrhea
108
HLA in celiac disease
HLA DQ2
| HLA DQ8
109
Solubility of gluten
Alcohol soluble
| Water insoluble
110
Biopsy findings in celiac disease
Villious atrophy,loss of micro villi brush border
Hyperplastic crypts
Presence of plasma cells in lamina propria
Overall mucosal thickness is unchanged
111
Normal Villious crypt ratio
3-4:1
112
Diagnosis of lactase deficiency
Acidic stools
Abnormal oral sugar tolerance test: blood glucose rise of <20mg/dl above fasting level with a disaccharide load of 2g/kg
Breath H2 more than 11ppm
113
Precocious puberty age
<9 yrs boys
Appearance of secondary sexual characters
114
Bone age ,height age and chronological age in
| Hypopitutaryism
Height age less than bone age
| Bone age less than chronological age
115
Bone age ,height age and chronological age in
| Hypopitutaryism
Height age less than bone age
| Bone age less than chronological age
116
Order of hormone loss due to mass compressing the pituitary gland
1. GH
2. FSH
3. LH
first manifestation in children:growth delay
Adults:hypogonadism
117
Order of hormone loss due to mass compressing the pituitary gland
1. GH
2. FSH
3. LH
first manifestation in children:growth delay
Adults:hypogonadism
118
Causes of acquired lactase deficiency
```
Gastroenteritis
CF
PEM
cow milk protein intolerance
Prolonged use of neomycin
```
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