Endocrinology Flashcards
1
Q
Most common tumor in sella turcica
A
craniopharyngioma
2
Q
Pituitary tumor came from
A
Rathke’s pouch
3
Q
Oxytocin type of feedback
A
Positive
4
Q
Underproduction of growth hormone alone or in combination with other hormones
A
Hypopituitarism
5
Q
Vasopressin deficiency
A
Central DI
6
Q
Vasopressin insensitive kidney
A
Nephrogenic DI
7
Q
DI
DM
Optic atrophy and deafness
A
Wolfram syndrome
Didmoad syndrome
8
Q
Polyuria >5cc/k/h
Polydypsia
AVP on distal tubules
A
Diabetes insipidus
9
Q
Most common etiology of CDI
A
Brain tumor 50%
Others Idiopathic Head trauma CNS infection Histiocytosis
10
Q
Clinical manif of DI
A
Poor feeding Failure to thrive Polyuria Irritability Growth retardation Seizure 2 to dehydration
11
Q
Dx of DI
A
24h urine collection Pale colorless urine with SG of 1.001-1.005 Urine osmo 350-200 mosm/kg Hypernatremia Hyperchloremia
12
Q
Appearance of secondary sex characteristics before accepted age
Breast bud in girls before:
Testicular enlargement in boys:
A
Precocious puberty
8 years
9 years
13
Q
Earliest manifestation of puberty in girls
in boys
A
Thelarche
Testicular enlargement
14
Q
Most common cause of gonadotropin precocious puberty
A
Hypothalamic hamartoma
15
Q
Precocious puberty
Polyostotic fibrous dysplasia
Cafe au lait spot (unilateral)
A
McCune Albright Syndrone
16
Q
Precocious puberty polyostotic fibrous dysplasia
A
Coast of Maine (cafe au lait)
McCune Albright
17
Q
Tx for precocious puberty
A
Leuprolide acetate
GnRH agonist to inhibit GH
18
Q
Absence of signs of puberty
Age of onset for boys: 14
For girls 13
A
Delayed puberty
19
Q
Prostatic utricle homologue from paramesonephric duct
A
Uterus, cervix, vagina
20
Q
Epididymis homologue from mesonephric duct
A
Gartner’s duct
21
Q
Prostate homologue from urogenital sinus
A
Skene’s gland
22
Q
Cowper’s
Bulbourethral gland homologue from urogenital sinus
A
Bartholin’s gland
23
Q
Scrotum homologue
A
Labia majors
24
Q
Penis homologue
A
Clitoris
25
Paramesonephric duct or
| Mullerian duct
```
Fallopian tube
Prostatic utricle
Uterus
Cervix
Vagina
```
26
Mesonephric duct
| Wolffian duct
```
Rete testes
Rete ovarii
Epididymis
Gartner’s duct
Vas deferens
Seminal vesicle
```
27
Female Pseudo-Hermaphroditism causes
CAH
| Maternal androgen
28
Causes of CAH
21 hydroxylase def
11 alpha hydroxylase def
3 betahydroxysteroid dehydrogenase def
29
Caused by 21 hydroxylase deficiency
| Most important presentation:
CAH
| ambiguous genitalia
30
Tx of CAH
cortisol
31
Hypospadia
Ambiguous genitalia
Syndactyly
Syndrome
Smith Lemli Opitz Syndrome
32
Hypospadia
Ambiguous genitalia
Syndactyly
Deficient enzyme
7 dehydrocholesterol reductase
Smith Lemli Opitz Syndrome
33
Newborns with CAH are at risk for
Neonatal adrenal crisis 2 to sodium loss because of absent aldosterone
Tx with cortisol
34
Most common cause of genital ambiguity
CAH
35
Male phenotype of turner syndrome
Noonan syndrome
36
Pulmonary stenosis
Pigeon breast
Webbing of neck
Short
Noonan syndrome
37
Most common cardiac problem in turner
Coarctation of aorta
and ovarian dysgenesis and amenorrhea
Wide spaced nipples
38
```
Thyroid dysgenesis (ectopic)
Thyroid scan or through utz (mass at back of tongue or middle part of neck at hyoid)
```
Congenital hypothyroidism
39
85% of hypothyrodism caused by
Thyroid dysgenesis
40
Hypothyroidism may be caused by inborn error of
thyroxine synthesis and maternal transfer of TRBab (thyrotropin-receptor blocking antibody)
41
1/3 of cases in thyroid dysgenesis is assoc with
2/3 of dysgenesis present with
aplasia
thyroid ectopic tissue lingual
42
Thyroid dysgenesis manifestation
```
Prolonged jaundice
Large tongue
Mental retardation
Umbilical hernia
Sluggish
Feeding difficulties
Somnolence
Constipation
Cold mottled skin
Edema
Large abdomen
```
43
```
Intractable neonatal hypoglycemia in infants
Macroglossia
Large size
Visceromegaly
Mild microcephaly
Omphalocoele
Facial nevus flammeus
Earlobe crease
```
Beckwith Wiedemann Syndrome
44
Carcinoma assoc with Beckwith Wiedemann Syndrome
Wilm’s tumor
Hepatoblastoma
Rhabdomyosarcoma
45
First clinical manifestation of Congenital hypothyroidism
growth deceleration
46
Congenital hypothyroidism dx
newborn screening
low T4
inc TSH
47
congenital hypothyroidism tx
L thyroxine
48
Most common cause of thyroid disease in children
| Most common cause of acquired hypothyroidism
Thyroiditis
Lymphocytic thyroiditis
Hashimoto thyroiditis
Autoimmune thyroiditis
49
Catecholamine secreting tumor of chromaffin cell
Dx:
Tx:
Pheochromocytoma
VMA
Phenoxybenzamine
50
Catecholamine secreting tumor of chromaffin cell in pediatrics
Neuroblastoma
51
More sensitive test for pheochromocytoma
Urine metanephrine vs VMA
52
Beta cell destruction leading to absolute insulin def (insulin dependent DM or IDDM)
```
Immune related
Idiopathic
Ketoacidosis
Polydypsia, polyuria, polyphagia
Patients are lean
```
DM
53
Predominantly insulin resistance to predominantly secretory defect with insulin resistance
Non insulin dep DM 90% of cases
Very strong genetic component
80% obese
DM T2
54
Insulin levels extremely low
| In 20-40% of children with new onset DM and non compliant patients
DKA
55
Temporary delay in patient’s growth
No physical abnormality in the child
Once puberty hits, catch-up growth occurs
A normal variant and not pathologic
Constitutional delay of growth and adolescence
56
Child’s height falls along or below the midparental height, not pathologic.
A normal variant.
Remember to check the parent’s heights as well before concluding that the child is stunted.
Familial Genetic short stature
57
Chronic disease
Child will channel his energy toward eliminating the disease, thus growth is affected
With malnutrition, the body is not able to grow accordingly.
Primary nutritional deficiency
| Severe chronic illness
58
In absence of GH, there would be no stimulus for growth but once treatment with GH (supplementation) is started, child will start to grow.
Congenital GH deficiency
59
Recall that one of the manifestations of Turner is short stature
Turner syndrome
| untreated
60
Deficiency of 21 hydroxylase leads to build up of dihydroepiandrostenedione (overproduction of androgen)
DHEA stimulates
transformation of genitalia into male organ (not testosterone)
virilization of female baby
61
Confirmatory test for Congenital Adrenal Hyperplasia by screening
17-hydroxyprogesterone
62
CAH from 21 hydroxylase deficiency will also manifest with
Lack of aldosterone, corticosteroids or glucocorticoids
Hyponatremia, Hyperkalemia (lack of aldosterone)
Hypoglycemia (lack of glucocorticoid, no gluconeogenesis and glycogenolysis)
63
Hyponatremia
Hyperkalemia
Hypoglycemia
CAH
64
Hyperpigmentation occurs in CAH because of excessive
ACTH where Melanocyte stimulating hormone is produced
More pigmented
65
The innate tendency is for a biopotential fetus to develop into a
Female
66
For the fetus to develop into a male, it requires:
Testes determining factor (sex determining region of Y or SRY)
Testicular production of Anti-Mullerian Hormones (AMH) also called Mullerian Inhibiting Substance and testosterone
Normal gonadotropin production by HPA
Testosterone -> Dihydrotestosterone by 5 alpha reductase
Organ response to androgen
67
CAH may present as
Undermasculinization of males
| Virilization of genetic females
68
First sign of virilization (lalaki) in females
rugation of labia majora
69
Tells you about enzyme activity (21 hydroxylase)
Severity of electrolytes
70
Male primordial tissue
Wolffian duct
71
Female primordial tissue
Mullerian
72
Undervirilization of genitalia
```
Male pseudohermaphroditism
(kulang)
```
73
Virilization of genitalia
Female pseudohermaphroditism
74
In males, genital ambiguity is caused by
Testicular synthetic defect in male sex hormone (androgen) biosynthesis
Resistance to those hormones in target tissue (male pseudohermaphroditism)
75
In females, ambiguous genitalia is due to
Congenital adrenal hyeprplasia (21 hydroxylase deficiency, 11 apha hydroxylase, 3 beta hydroxylase) excess androgen
Incomplete gonadal dysgenesis - partial testis determination in presence of Y chromosome
76
Male Pseudohermaphroditism
```
Dysmorphic syndrome
Defect in testosterone biosynthesis
Defect in androgen target tissue
Persistent mullerian duct syndrome
Gonadal dysgenesis
Vanishing testes
```
77
Defect in testosterone biosynthesis
```
Cholesterol desmolase (20,22 desmolase)
17 alpha hydroxylase
3 beta-hydroxysteroid dehydrogenase
17,20 lyase (desmolase)
17 beta hydroxysteroid oxidoreductase (ketoreductase) deficiency
Leydig cell hypoplasia
HCG resistance
```
78
Defects in androgen target tissues
5 alpha reductase
Androgen insensitivity (testicular feminization)
Incomplete resistance
79
Ambiguous genitalia DOC
Prednisone
Hydrocort
Fludrocortisone
80
What is used to locally screen for congenital hypothyroidism
TSH
81
Congenital hypothyroidism must be diagnosed and treated by HRT by
2 months
82
Secondary short stature is usually due to
a. Environmental
b. Hereditary
c. Idiopathic
d. Recurrent
Environmental
83
The following should be obtained when assessing short stature except
a. bone age
b. height of grand parents on both sides
c. maternal height
d. paternal height
B
84
The ff are clinical indications for growth hormone replacement except:
a. Constitutional short stature
b. Growth hormone deficiency
c. Small for gestational age
d. Turner syndrome
Constitutional short stature
85
All of the ff parameters are important to know in assessing short stature EXCEPT
a. Bone age
b. Chronologic age
c. Gestational age
d. Height for age
Height for age
86
Synthetic nonapeptide GnRHR agonist for prostate cancer, endometriosis, uterine fibroids, central precocious puberty
Leuprolide acetate
