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Parm > Endocrinology 16, 35-40 > Flashcards

Endocrinology 16, 35-40 Flashcards

1
Q

Testicular torsion

A

Sudden twisting of the spermatic cord within the scrotum
Urological emergency —> because of risk of ischemia and possible infarction of testis

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2
Q

mechanism of testicular torsion

A

Intravaginal torsion,
Extravaginal torsion,
Long mesorchium

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3
Q

irreversible damage occur after hour many hours of testicular torsion

A

6-12 hours

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4
Q

testicular torsion most commonly affects patients of what age

A

Most commonly affects
* neonates (first 30 days of life) and
* pubertal boys (10-14 years)

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5
Q

symptoms of testicular torsion (also in neonates)

A
  • Abrupt onset of severe testicular pain,
  • swollen testis,
  • nausea/vomiting
  • abnormal position of testis,
  • absent cremasteric reflex
  • negative Prehn sign (elevation of the scrotum relieves testicular pain —>
    *positive in epididymitis
    *negative in testicular torsion)

In neonates:
possible absent testis,
firm and painless scrotal mass
possible acute inflammation
(swollen, erythematous, tender scrotum)

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6
Q

Prehn sign

A

(elevation of the scrotum relieves testicular pain —>
*positive in epididymitis
*negative in testicular torsion)

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7
Q

diagnosis of testicular torsion

A

Diagnosis:
* duplex US of scrotum —> enlarged testis, twisting of spermatic cord, reduced or absent blood flow to/from testis
* heterogenous appearance of testicular parenchyma indicates testicular necrosis

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8
Q

what indicates testicular necrosis

A

heterogenous appearance of testicular parenchyma indicates testicular necrosis

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9
Q

treatment of testicular torsion

A
  • Manual testicular detorsion: may be attempted prior to surgery for immediate pain relief but should not delay surgery
  • Exploratory surgery:
    *immediate reduction (untwisting) and orchidopexy (anchor testis to inner lining of scrotum ,
    *orchiectomy if the testis is grossly necrotized
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10
Q

sudden, severe, unilateral scrotal pain in a patient with abnormally positioned testis should be managed as —– until proven otherwise

A

testicular torsion until proven otherwise

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11
Q

ovarian torsion

A

Sudden twisting of an ovary around the adnexal ligaments
Gynecological emergency —> because of risk of ischemia and ovarian necrosis

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12
Q

ovarian torsion most commonly affect women of what age

A

Most commonly affects women of childbearing age

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13
Q

symptoms of ovarian torsion

A
  • Sudden-onset unilateral lower abdominal
  • and/or pelvic colicky pain
  • nausea/vomiting
  • adnexal mass may be palpable
  • adnexal tenderness
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14
Q

diagnosis of ovarian torsion

A
  • Urine or serum beta-HCG to rule out pregnancy
  • Pelvic ultrasound with Doppler —>
    *enlarged edematous ovary
    *thickened Fallopian tube
    *twisted vascular pedicle
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15
Q

treatment of ovarian torsion

A

Exploratory surgery:
* adnexal detorsion with preservation of ovarian function and oophoropexy (anchor ovary) if patient is premenopausal
* salpingo-oophorectomy if the ovary is grossly necrotized or if patient is postmenopausal

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16
Q

Cryptorchidism

A

Failure of one or both testicles to descend to their natural position in the scrotum *
Most common congenital anomaly of the genito-urinary tract

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17
Q

Most common congenital anomaly of the genito-urinary tract

A

cryptorchidism

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18
Q

symptoms of cryptorchidism

A
  • Palpable (80%): testicles cannot be manually manipulated in the scrotum
  • Non-palpable (20%): may be intraabdominal or absent
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19
Q

variants of cryptorchidism

A
  • inguinal testis (90%)
  • intra-abdominal testis
  • ascending testis (testicular retraction into scrotal pouch is possible however immediately retract and ascend into groin after manipulation)
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20
Q

treatment of cryptorchidism

A
  • Typically resolves without treatment via spontaneous descent
  • Persistent cases require surgery, should be performed as soon as possible after 6 months of age —> Orchidopexy
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21
Q

complications of cryptorchidism

A
  • testicular cancer (risk is not eliminated by surgery)
  • infertility (higher temperature of abdominal cavity is suboptimal for spermatogenesis)
  • testicular torsion
  • inguinal hernia
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22
Q

Type 1 diabetes mellitus in children

A

Chronic hyperglycemia due to disturbance of insulin secretion and/or insulin effect —> leading to alterations in carbohydrate-, lipid- and protein metabolism
More than 85% of childhood DM are type 1

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23
Q

percentage of T1DM in childhood

A

More than 85% of childhood DM are type 1

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24
Q

incidence of T1DM

A

Incidence of T1DM in the pediatric age group is continuously increasing, mostly in children <5 years

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25
Q

Pathophysiology of T1DM

A

autoimmune destruction of beta cells in the pancreas —> absolute insulin deficiency

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26
Q

Is T1DM inherited or environmental?

A

Pathogenesis: multifactorial disease *
* Genetics (increased risk with affected relatives)
* Epigenetics
* Environment
* Precipitating factors

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27
Q

staging of T1DM

A
  • Stage 1: normal blood sugar, 2+ islet autoantibodies (start of the disease)
  • Stage 2: abnormal blood sugar, 2+ islet autoantibodies
  • Stage 3: clinical features, 2+ islet autoantibodies
  • Stage 4: long-standing T1DM
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28
Q

symptoms of T1DM children vs neonates

A

Hyperglycemia

  • Children:
    *polyuria
    *enuresis (inability to control urination), *polydipsia
    *polyphasic
    *weight loss
    *blurred vision
  • Infants:
    *vomiting
    *dehydration
    *toxicosis
    *coma
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29
Q

diagnosis of T1DM

A
  • investigation of blood glucose and ketones and/or urinary glucose and ketones
  • Fasting blood glucose > 7 mmol/l + random blood glucose above 11,1 mmol/l TWICE
  • In case of clear clinical symptoms, performing fasting oral glucose tolerance test is unnecessary and dangerous
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30
Q

In which case if performing fasting oral glucose tolerance test OGT unnecessary and dangerous

A

In case of clear clinical symptoms

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31
Q

Frequent misdiagnosis in T1DM

A
  • Polyuria vs pollakisuria (increased urination frequency) —> urinary tract infection
  • Kussmaul breathing —> lung or heart disease
  • Liver capsule distension, acidosis —> acute abdominal catastrophe (eg appendicitis)
  • Unconsciousness —> meningitis, encephalitis
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32
Q

treatment of T1DM

A
  • insulin + diet + physical exercise
    Insulin: aim is to mimic physiological secretion as well as possible by
  • combining rapid + long acting insulin
  • Continuous glucose monitoring + subcutaneous insulin pumps
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33
Q

monitoring of T1DM

A

HbA1c (glycated Hb) —> formation of sugar-Hb linkage indicates excessive sugar in
bloodstream,
measured to primarily determine 3-month average blood sugar level in diabetic patients

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34
Q

complications of T1DM

A

DKA,
retinopathy,
neuropathy

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35
Q

DKA precipitating factors

A

Precipitating factors: *
* Infections (50%): commonly gastroenteritis
* Omission of insulin: on purpose or by accident
* Puberty: recurrent DKA episode

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36
Q

DKA triad

A

hyperglycemia + acidosis + dehydration

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37
Q

fluid therapy in kids

A

first 10 kg : 100ml/kg
2nd 10 kg : 50 ml/kg
3rd 10 kg: 20ml/lkg

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38
Q

diagnosis of DKA

A
  • Metabolic acidosis
    *pH <7,3
    *HCO3- <15 mmol/l
  • Hyperglycemia (>11,1 mmol/l)
  • Ketones in blood/urine
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39
Q

pH , HCO3, glucose level in DKA

A
  • pH < 7,3
  • HCO3- < 15 mmol/l
  • glucose > 11mmol/l
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40
Q

symptoms of DKA

A
  • frequent urination
  • increased thirst
  • dry mouth
  • blurry vision
  • sweet breath (ketones)
  • nausea/vomiting
  • abdominal pain
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41
Q

treatment of DKA

A

Treatment* :
A. ABCDE
B. Fluids
*Balanced crystalloids
*Calculate for 48h + add suspected fluid losses (5-10% depending on clinical situation)
*Administer slowly, unless patient is in shock —> fluid bolus: 10 ml/kg
*Complication of too fast fluid administration: cerebral edema

C. Insulin
*Fast-acting insulin IV (only switch to subcutaneous when patient has normal pH and is stabilized)
*0,05 U/kg/h

D. Insulin + glucose
*When glucose < 15 mmol/l —> change crystalloid solution to 5% glucose solution (10% is necessary if drop in glucose is too fast)

E. Electrolyte resuscitation
*Monitor K+ carefully for any decrease (insulin pushes K+ intracellularly) —> K+ < 5 mmol/l or
when child produce urine —> administer K+
*Monitor Na+ carefully (but have to calculate with corrected Na+ according to glucose levels) b.
—> administer Na+ if too low

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42
Q

fluid bolus type and amount in DKA

A

Balanced crystalloids
*Calculate for 48h + add suspected fluid losses (5-10% depending on clinical situation)
*Administer slowly, unless patient is in shock —> fluid bolus: **10 ml/kg **

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43
Q

insulin dosage and when to switch from IV to subcutaneous ?

A

only switch to subcutaneous when patient has normal pH and is stabilized)
0,05 U/kg/h

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44
Q

Type of insulin used in DKA

A

Fast-acting insulin IV
(only switch to subcutaneous when patient has normal pH and is stabilized)

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45
Q

when to switch crystalloid solution to 5% glucose solution
in DKA treatment

A

When glucose < 15 mmol/l —> change crystalloid solution to 5% glucose solution (10% is necessary if drop in glucose is too fast)

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46
Q

insulin effect on potassium

A

(insulin pushes K+ intracellularly)
K+ < 5 mmol/l
or
when child produce urine —> administer K+

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47
Q

Mild, moderate, severe dehydration percentage

A

mild 3-5%
moderate 6-10%
severe >10%

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48
Q

Congenital adrenal hyperplasia (CAH)

A

Group of autosomal recessive defects in the enzymes that are responsible for cortisol/aldosterone/ androgen (rarely) synthesis
* All subtypes are characterized by
*low levels of cortisol
*+ high levels of ACTH
*+ adrenal hyperplasia

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49
Q

pathophysiology of CAH

A
  • low levels of cortisol —> lack of negative feedback to the pituitary —> increased ACTH
    —> adrenal hyperplasia + increased synthesis of adrenal precursor steroids
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50
Q

subtypes of CAH

A

21β-hydroxylase defect (95%)
11β-hydroxylase defect (5%)
17α-hydroxylase defect (rare)

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51
Q

General clinical features of CAH

A

General:
* hypoglycemia (cortisol production is not sufficient to maintain glucose levels)
* adrenal crisis
* failure to thrive
* hyperpigmentation (↑melanocyte-stimulating hormone: cleaved from ACTH precursor)

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52
Q

21β-hydroxylase defect clinical features

A
  • Hypotension (↓aldosterone + DOC) ‣
  • XX —> female pseudohermaphroditism (clitoromegaly or male external genitalia), precocious puberty, virilization, irregular menstrual cycles, infertility
  • XY —> normal male external genitalia at birth, precocious puberty
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53
Q

11β-hydroxylase defect clinical features

A
  • Hypertension (↑DOC)
  • XX —> female pseudohermaphroditism (clitoromegaly or male external genitalia), precocious puberty, virilization, irregular menstrual cycles, infertility
  • XY —> normal male external genitalia at birth, precocious puberty
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54
Q

17α-hydroxylase defect (rare) clinical features

A
  • Hypertension (↑DOC)
  • XX —> normal female external genitalia at birth, delayed puberty, sexual infantilism (ovaries cannot produce estrogen)
  • XY —> male pseudohermaphroditism (female external genitalia), delayed puberty, sexual infantilism
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55
Q

treatment aim in CAH

A

Treatment: aim is to
* replace deficient hormones and
* reduce excess androgen production

56
Q

Treatment which is indicated in all subtypes of CAH

A

Glucocorticoid replacement therapy is indicated in all forms of CAH
(hydrocortisone in pediatrics)

57
Q

treatment of 21β-hydroxylase defect

A
  1. Glucocorticoid replacement therapy (hydrocortisone in peds)
  2. fludrocortisone (aldosterone substitution)
  3. salt supplements
58
Q

treatment of 11β-hydroxylase defect

A
  1. Glucocorticoid replacement therapy ( hydrocortisone in pediatrics)
  2. spironolactone (block mineralocorticoid receptor)
  3. reduced salt intake
59
Q

treatment of 17α-hydroxylase defect

A
  1. Glucocorticoid replacement therapy (hydrocortisone in pediatrics)
  2. spironolactone (block mineralocorticoid receptor)
  3. estrogen replacement therapy (XX)
  4. reduced salt intake
60
Q

Disease of the thyroid gland

A
  • Hypothyroidism
    *Congenital hypothyroidism
  • Hyperthyroidism
    *Neonatal hyperthyroidism
    *Graves disease
61
Q

Congenital hypothyroidism etiology

A
  • Primary (more common):
    *ectopic thyroid gland (60%)
    *thyroid aplasia/hypoplasia (30%)
    *defects in thyroxin synthesis
  • Secondary:
    *cerebral mid-line defects
    *pituitary aplasia/hypoplasia,
    *perinatal stress
  • Transient neonatal hypothyroidism: *temporary deficiency of thyroid hormones after birth, typically in first few months, later baby recovers
62
Q

Primary types of congenital hypothyroidism

A

ectopic thyroid gland (60%)
thyroid aplasia/ hypoplasia (30%)
defects in thyroxin synthesis

63
Q

secondary types of congenital hypothyroidism

A
  • Secondary:
    *cerebral mid-line defects
    *pituitary aplasia/hypoplasia,
    *perinatal stress
64
Q

Transient neonatal hypothyroidism

A

rare type of congenital hypothyroidism
*temporary deficiency of thyroid hormones after birth, typically in first few months, later baby recovers
* From:
*maternal autoimmune thyroiditis
*maternal drug use (thyreostatics, amiodarone)
*maternal iodine deficiency
*preterm baby (immature hypothalamic-pituitary axis)

65
Q

symptoms of congenital hypothyroidism

A
  • Usually little to no symptoms are present at birth as maternal T4 can cross placenta –>
    symptoms can develop over weeks-months if screening is not performed
  • Sleepiness
  • poor feeding
  • severe or prolonged jaundice
  • constipation
  • large fontanelles
  • hernias ‣ (umbilical hernia)
  • macroglossia
  • abdominal distension
  • hypotonia, hypothermia, failure to thrive
66
Q

can T4 pass through placenta?

A
  • Usually little to no symptoms of hypothyroidsm are present at birth as maternal T4 can cross placenta –>
    symptoms can develop over weeks-months if screening is not performed
67
Q

complication of congenital hypothyroidism

A

cretinism —> from untreated hypothyroidism that leads to impaired development of the brain and skeleton —> skeletal abnormalities + permanent intellectual disabilities

68
Q

screening of congenital hypothyroidsim

A

measure TSH from dried blood samples taken in the postnatal 48-72 h —> increased
levels are indicative of congenital hypothyroidism

69
Q

treatment of congenital hypothyroidism

A

lifelong hormone replacement might be necessary

70
Q

Neonatal hyperthyroidism risk in mother with graves disease

A

Occurs in approx 5% of babies born to mothers with Graves’ disease —> transplacental passage of maternal TSH receptor antibodies

71
Q

symptoms of neonatal hyperthyroidism

A
  • May arise directly after birth or delayed up to 10 days later as a result of transplacental maternal antithyroid medication (keeps levels low in baby as well)
  • Irritability
  • restlessness
  • tachycardia
  • diaphoresis
  • hyperplasia
  • poor weight gain
  • diffuse goiter (can cause tracheal compression)
  • microcephaly (due to craniosynostosis: premature fusion of cranial sutures)
72
Q

how long for symptoms of neonatal hyperthyroidism to show and why

A

May arise
* directly after birth or
* delayed up to 10 days later as a result of transplacental maternal antithyroid medication (keeps levels low in baby as well)

73
Q

treatment of neonatal hyperthyroidism

A
  • resolves within 1-3 months (transient)
  • Infants with symptoms —>
    *methamizol (inhibit peroxidase —> decrease thyroid hormone synthesis) and
    *propanolol (decrease heart rate, blood pressure)
74
Q

complications of neonatal hyperthyroidism

A

untreated hyperthyroidism can lead to
cardiac failure + intellectual disability

75
Q

most common cause of hyperthyroidism in children

A

graves disease

76
Q

symptoms of graves disease

A
  • Heat intolerance, excessive sweating (increased basic metabolic rate)
  • weight loss, frequent bowel movements,
  • glucose intolerance
  • Pretibial myxedema (glycosaminoglycan deposition, non-pitting edema)
  • thyroid acropachy (nail clubbing)
  • hypertension
  • Graves ophthalmology (exophthalmos, edema of the periorbital tissue
  • goiter
  • Tachycardia, increased blood pressure,
  • tremor
  • Oligo/amenorrhea, infertility, gynecomastia
  • Anxiety, insomnia, hyperreflexia
  • Young children often show growth spurt
77
Q

treatment of graves disease

A
  • Antithyroid medications: 1st line **Methamizole **
  • Symptom control: **beta-blockers **(atenolol, propanolol )
  • Radioactive iodine ablation:
    *potential first line treatment in patients >10 years or
    *second line if relapse after long-term therapy
  • Surgery (near-total thyroidectomy): in children < 5 years who do not improve with antithyroid drugs or if have large goiters
78
Q

Hypocalcemia etiology

A
  • Vitamin deficiency
  • diabetes
  • acute renal failure
  • prematurity
  • birth asphyxia (oxygen deprivation around birth/delivery)
  • DiGeorge syndrome
79
Q

clinical features of hypocalcemia

A

usually
* asymptomatic
* neuromuscular excitability (spasms)
* seizures
* tetanus

80
Q

treatment of hypocalcemia

A

asymptomatic infants initiating feeding is usually enough, if not: Ca substitution

81
Q

Hypercalcemia etiology

A
  • idiopathic infantile hypercalcemia
  • hyperparathyroidism
  • Williams syndrome,
  • hypercalcemia of malignancy
  • vitamin D intoxication
  • familial hypocalciuric hypercalcemia
  • sarcoidosis
  • renal failure
  • Addison’s disease
  • iatrogenic (eg thiazide diuretics)
82
Q

clinical features of hypercalcemia

A
  • anorexia
  • nausea/vomiting
  • failure to thrive
  • constipation
  • abdominal pain
  • polyuria
  • polydipsia
  • apathy
  • drowsiness
  • depression
83
Q

treatment of hypercalcemia

A

treat underlying condition

84
Q

Hypoparathyroidism etiology

A
  • failure in parathyroid development (agenesis/dysgenesis) eg in DiGeorge sy
  • radiotherapy,
  • surgery (post-thyroidectomy)
  • magnesium deficiency (failure in PTH secretion)
  • pseudohypoparathyroidism (PHP) (end-organ resistance to the actions of PTH)
85
Q

PTH effect

A

PTH —> bone resorption —>
release calcium + phosphate into blood,
BUT increased phosphate excretion by kidneys

86
Q

lab value of hypoparathyroidism

A

low plasma calcium
high plasma phosphate
low serum PTH

87
Q

Hyperparathyroidism is it common in children ?

A

UNCOMMON

88
Q

Etiology of hyperparathyroidism

A
  • parathyroid adenoma
  • MEN1
  • MEN2
  • secondary hyperparathyroidism (rickets, chronic renal failure)
  • transient neonatal hyperparathyroidism (maternal hypoparathyroidism)
89
Q

lab values in hyperparathyroidism

A

high serum PTH
high plasma calcium
low plasma phosphate

90
Q

Rickets

A

Disorder of impaired mineralization of cartilaginous growth plates due to vitamin D deficiency
Only occur in children (growth plates have not fused yet) (adult version is osteomalacia)

91
Q

osteomalacia vs rickets

A

rickets only occur in children (growth plates have not fused yet) =Disorder of impaired mineralization of cartilaginous growth plate

(adult version is osteomalacia)

92
Q

etiology of rickets

A

Vitamin D-deficiency since breast milk has low amounts (need supplementation)

93
Q

pathophysiology of rickets

A

↓vitamin D —> hypocalcemia —> defective cartilaginous growth plate mineralization

Hypocalcemia —>↑PTH levels —>↓phosphate levels —> also impair mineralization

94
Q

clinical features on rickets

A
  • Bone deformities:
    *Bending of primarily the long bones
    *Distension of the bone-cartilage junctions *Rachitic rosary: bead-like distension of the bone-cartilage junctions of the ribs *
    *Marfan sign: distension of the epiphyseal plate of the distal tibial with widening and
    cupping of the metaphysis gives the impression of a double medial malleolus on inspection and palpation of the ankle
    *Craniotabes: softening of the skull *
    *Genu varum *
  • Increased risk of fracture
  • Harrison groove: depression of the thoracic outlet due to muscle pulling along costal insertion of the diaphragm
  • Late closing of fontanelles, impaired growth
95
Q

diagnosis of rickets

A

Lab:
↓calcium,↓phosphate,
↑PTH, ↑ALP

Imaging: bone deformities typical for Rickets

Bone biopsy: impaired bone mineralization

96
Q

treatment of rickets

A

vitamin D (indicated in all infants who are exclusively breastfed)

97
Q

Growth disorders what to consider?

A

According to
* sex
* Consider ethnic background
* genetics (parents heights)

98
Q

Growth disorders diagnosis

A

Growth curve changes 2+ percentiles in one year (+/- 2 SD)
* Measuring of body length laying down if under 2 yrs, of body height standing up if above 2 yrs
* Bone age (biological age): compare to data base of normal bone development at certain ages

99
Q

Calculation of mid-parental height (MPH)* :

A

Boys MPH = (fathers height + mothers height)/2 + 6,5 cm

Girls MPH = (fathers height + mothers height)/2 - 6,5 cm

100
Q

Calculation of target height channel

A
  • helps determine whether child is growing according to family’s genetic background
  • Boys = (fathers height + mothers height)/2 + 13 cm

Girls = (fathers height + mothers height)/2 - 13 cm

101
Q

Disproportionate growth:

A

limbs or trunk is shorter/taller than rest of body’s proportions would suggest

either short trunk OR short extremeties

102
Q

short stature etiologies

A
  • nonpathological :
    *Familial short stature
    *Constitutional growth delay:delay in pulsatile hypothalamic GnRh release, temporary
  • Endocrine :
    *Hypothyroidism: impaired skeletal development due to iodine deficiency, intellectual disability
    *GH deficiencies: impaired bone + muscle development
    *Glucocorticoid excess (eg medications): accelerated bone resorption
    inhibited chondrogenesis
    cushingoid features (central obesity, moon facies, skin modifications, HTN)
    *Type 1 DM: malabsorption + malnutrition
  • Genetic : Laron sy, turner, down sy, williams, cystic fibrosis
  • Psychosocial :
    *Maternal substance use (eg alcohol): intrauterine growth retardation, low birth weight ‣
    *Psychosocial short stature: emotional deprivation or stress —> malnutrition + low GH levels ‣
    *Psychiatric conditions (eg anorexia):
103
Q

genetic etiologies of short stature

A
  • Laron sy: GH receptor mutation —> tissue insensitivity to GH;
    *microcephaly
    *prominent forehead
    *saddle nose
    *delayed puberty
    *small genitalia
  • Turner sy (XO monosomy): skeletal abnormalities, gonadal dysgenesis, cardiovascular defects
  • Down sy:
    *craniofacial dysmorphia
    *skeletal abnormalities
    *developmental delay, obesity
  • Williams sy:
    *cognitive impairments
    Elfin-like facies
    cardiovascular abnormalities
  • Cystic fibrosis: malnutrition, failure to thrive, chronic infections
104
Q

diagnosis of short stature

A

1) malnutrition
2) 2) hypothyroidism
3) 3) bone dysplasia
4) 4) delayed puberty
5) 5) GH shortage

105
Q

treatment of short stature

A

treat underlying disorder if possible *
* Discontinuation of growth-inhibiting medications
* If delayed puberty —> sex hormones
* GH supplementation

106
Q

short stature
Endocrine etiology

A

*Hypothyroidism:
impaired skeletal development due to iodine deficiency,
intellectual disability

*GH deficiencies:
impaired bone + muscle development

*Glucocorticoid excess (eg medications): accelerated bone resorption
inhibited chondrogenesis
cushingoid features
(central obesity, moon facies, skin modifications, HTN)

*Type 1 DM: malabsorption + malnutrition

107
Q

tall stature etiologies

A
  • Non pathological: familial tall stature
  • endocrine:
    *Hyperparathyroidism
    *obesity
    *Pituitary gigantism (GH excess):
    *McCune-Albright sy
    *Precocious puberty
  • Genetic:
    *Fragile X syndrome
    *Weaver sy
    *Sotos sy
    *Simpson-Golabi-Behmel sy
    *Marfan syndrome
    *Klinefelter syndrome
    *Beckwith-Wiederman syndrome:
    *Triple X syndrome
    *Homocysteinuria
    *Proteus syndrome:
108
Q

endocrine etiologies of tall stature

A
  • Hyperthyroidism: palpitations, weight loss, heat intolerance, anxiety, menstrual irregularities, tachycardia, tremor
  • Obesity: high BMI, early onset of puberty, slightly advance bone age ‣
  • Pituitary gigantism (GH excess):
    *before growth plate is closed —> gigantism,
    *after growth plate is closed —> acromegaly,
    tumor mass symptoms (headache, visual disturbance),
    elevated IGF1 level,
    oral glucose tolerance test (tumor won’t show negative feedback on GH secretion)
  • McCune-Albright sy: mutation in G-protein activating gene —> causing
    *peripheral precocious puberty
    *+ ovarian follicular cysts
    *+ café-au-lait spots
    *+ polyostatic fibrous dysplasia in bones
  • Precocious puberty: early puberty, abnormal LH + FSH + estradiol + testosterone + betaHCG
109
Q

McCune-Albright sy

A

mutation in G-protein activating gene —> causing TALL STATURE
*peripheral precocious puberty
*+ ovarian follicular cysts
*+ café-au-lait spots
*+ polyostatic fibrous dysplasia in bones

110
Q

tall stature genetic etiologies

A
  • Fragile X syndrome: long narrow face, protruding ears, hypotonia, macroorchidism, intellectual disability
  • Weaver sy:
    *macrocephaly
    broad forehead
    large ears
    hypertelorism
    hypotonia
    wide philtrum
  • Sotos sy:
    *dolichocephaly
    *macrocephaly
    *prominent forehead
    *hypertelorism
    *learning disability
  • Simpson-Golabi-Behmel sy:
    *coarse facial features
    *macrostomia
    *macroglossia
    *risk of neoplasm
    *often normal mental development
  • Marfan syndrome: hyperextensible joints, long limbs,
    *cardiac + ophthalmological abnormalities ‣
  • Klinefelter syndrome: disproportionally long limbs, poorly developed secondary sex
    characteristics, mild learning difficulties
  • Beckwith-Wiederman syndrome: macrosomia, hemihypertrophy, macroglossia, neoplasm risk
  • Triple X syndrome: clinodactyly, wide neck, under-develop ovaries + breasts, CoA ‣
  • Homocysteinuria: marfan phenotype, learning difficulties, predisposition to thromboembolism
  • Proteus syndrome: macrocephaly, epidermal nevi, vascular malformations, large hands + feet
111
Q

treatment of tall stature

A

treat underlying disorder if possible *
* If puberty has not started yet —> induce puberty (sex hormones* closes epiphyseal plate)
* If puberty has started —> epiphysiodesis (surgical ablation of epiphysis to stop bone from growing)

112
Q

short term and long term effect of increasing androgens for growth spurt

A

*↑[androgen] in childhood —>
fast growing spurt (testo promotes growth)
but long-term it might cause short stature (testo closes epiphyseal plate)

113
Q

Physiological changes during puberty:

A
  • Tanner stages
    *Breast development (girls)
    *Genital development (boys)
    *Pubic hair development (boys and girls) ‣
  • Bone growth: growth spurt
  • Bodyweight and composition: boys decrease fat content, girl increase fat content
  • Dermatological changes: acne vulgaris,
    hyperhidrosis
114
Q

Physiological first signs of puberty:

A
  • Girls —>
    *breast development (thelarche) at
    8-12yrs
    *menstrual bleeding (menarche) at 10,5-14,5yrs
  • Boys —>
    *testicular volume approx 4 ml at 9-14 yrs
115
Q

tanner stages

A
116
Q

Disorders of early pubertal growth and sexual maturation

A
  • Precocious puberty: appearance of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys
    *central
    *peripheral
117
Q

girls vs boy how common is precocious puberty

A

10x more common in girls than boys

118
Q

define precocious puberty

A

appearance of secondary sexual characteristics
before the age of 8 years in girls *
and 9 years in boys

119
Q

classification of precocious puberty

A
  • Central (“true”) precocious puberty —> gonadotropin-dependent
  • Peripheral precocious puberty —> gonadotropin-independent
  • Benign pubertal variants:
    *precocious thelarche (breast development)
    *premature adrenarche (pubic hair development)
    *precocious menarche (menstruation)
120
Q

Central precocious puberty: etiology

A

elevated GnRh levels

Etiology:
1. idiopathic (most common)
2. CNS lesions
3. obesity-related
4. neurofibromatosis

121
Q

central precocious puberty pathophysiology

A

early activation of hypothalamo-hypophyseal axis —>
abnormally early initiation of pubertal changes —>
early development of secondary sexual characteristics

122
Q

clinical features of precocious puberty

A

follows normal pattern of puberty, except that its early

123
Q

diagnosis of precocious puberty

A
  • Serum LH + FSH: increase
  • GnRH stimulation test: gonadotropin levels should increase
  • Brain MRI/CT: to rule out CNS lesion
124
Q

treatment of precocious puberty

A

GnRH agonist

125
Q

Peripheral precocious puberty:

A

without GnRH, due to peripheral synthesis of OR
exogenous exposure to sex hormones

126
Q

Peripheral precocious puberty: etiology

A

Etiology:
* ↑androgen production
*(congenital adrenal hyperplasia
*ovarian tumors
*adrenocortical tumors)

  • ↑estrogen production
    *McCune-Albright sy
    *HCG-secreting germ cell tumors)
  • ↑β-hCG production
    *dysgerminoma
    *malignant embryonal cell carcinoma
    *choriocarcinoma)
  • primary hypothyroidism
  • exogenous steroid use
  • obesity-related
127
Q

clinical features of Peripheral precocious puberty:

A

may not follow normal pattern of puberty, and exhibit other features of
underlying conditions (eg café-au-lait spots in McCune-Albright sy)

128
Q

diagnosis of Peripheral precocious puberty:

A
  • Serum LH + FSH: decrease *
  • GnRH stimulation test: gonadotropin levels does NOT increase *
  • Serum testosterone/estradiol: increased (depending on tumor) *
  • Specific tests:
    *TSH, T3
    *corticotropin stimulation test
    *US of ovaries/testis/abdomen
129
Q

treatment of Peripheral precocious puberty:

A
  • Tumor —> surgery
  • CAH —> cortisol and enzyme replacement
  • Ovarian cysts —> no intervention, spontaneous resolution is common
130
Q

Disorders of delayed pubertal growth and sexual maturation

A

Absent or incomplete development of secondary sex characteristics by
age of 14 years in boys and
13 years in girls

131
Q

etiology of delayed pubertal growth and sexual maturation

A
  • Physiological: constitutional delay of puberty
  • Pathological:
  • Hypergonadotropic hypogonadism:
    -Primary gonadal insufficiency:
    *Klinefelter sy
    *Turner sy
    *androgen insensitivity sy-Secondary gonadal insufficiency: *chemotherapy,
    *pelvic irradiation,
    *infections
    *trauma/ surgery
    *autoimmune disorders
  • Hypogonadotropic hypogonadism:
    *CNS lesion, Kallmann sy, Prader-Willi sy, Gaucher disease
  • Malnutrition
132
Q

Primary gonadal insufficiency:

A

Hypergonadotropic hypogonadism

  • Klinefelter sy
  • Turner sy
  • androgen insensitivity sy
133
Q

Secondary gonadal insufficiency:

A

Hypergonadotropic hypogonadism
* chemotherapy
* pelvic irradiation
* infections
* trauma/surgery
* autoimmune disorders

134
Q

Hypogonadotropic hypogonadism:

A

CNS lesion
Kallmann sy
Prader-Willi sy
Gaucher disease

135
Q

clinical features of delayed puberty

A

depends on underlying condition

136
Q

diagnosis of delayed puberty

A
  • Medical history
  • Serum LH + FSH + testosterone/estradiol:

*Low/normal with low testosterone/estradiol —>
-constitutional growth delay
-isolated GnRH deficiency
-functional hypogonadotropic hypogonadism
-or hypothalamic-pituitary disorders

*Elevated —> primary hypogonadism

Specific tests:
*prolactin level,
*IGF-1 level,
*TSH, T3
*karyotyping
*CBC
*MRI/CT
*abdominal US

137
Q

treatment of delayed puberty

A

treat underlying condition *
* Hormonal therapy: testosterone or estradiol

Parm (15 decks)

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