deck 3 Flashcards

(76 cards)

1
Q

hyperpituitarism

A
  1. primary - rare to have hyper secretion of pituitary hormones in peds
  2. secondary - from target hormone deficiencies resulting in decreased hormonal feedback - i.e. in hypogonadism, hypoadrenalism or hypothyroidism
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2
Q

Definition of precocious puberty

A

secondary sex characteristics
before 8 years in girls
before 9 years in boys

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3
Q

Classification of precocious puberty

A

central - gonadotropin dependent - alwasys isosexual

peripheral - independent

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4
Q

precocius puberty

A

leads to advanced linear growth, advanced bone age, shorter height

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5
Q

Differential of tall stature and overgrowth

A

most common - is familial/constitutional

fetal overgrowth - maternal DM, cerebral gigatism, Weaver, syndrome, Beckwith-Wiedemann
Post Natal overgrowth (childhood tall stature) : familial tall stature, cerebral gigantism, exogenous obesity
excess GH secretion (pituitary) 
McCune Albright syndrome
Precocious puberty 
marfan
Klinefelter (XXY)
Weaver syndrome
Fragile X syndrome
Homocystinuria
XYY
hyperthyroidism
Post Natal overgowth to adult tall stature - familial, androgen or estrogen deficiency o estrogen resistence
testicular feminization
ACTH or cortisol deficiecny or resistnace
excess GH secretion
Marfan
Klinefelter
XYY
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6
Q

Feature sod Klinefelter

A
tall stature
learning disabilities 
gynecomastia
decreased upper o lower body segment
hypotonia, clinodactyly, hypertelorism
small balls - bus androgen can be low nomal
infertiliy
small phallus
hypospadias, cryptorchism
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7
Q

hyperthyroidism in teens - what is usual adult height?

A

normal
but will have rapid growth in adolescence
most commonly caused by Graves disease -moer in girls

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8
Q

exogenous obesity and growth?

A

rapid linear growth and early onset of puberty, usually normal adult height

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9
Q

Appropach to Tall stature:

A

Ddx of normal vs rare pathology
if familial tall stature and normal PE then no investigations needed
Can do a bone age to predict adult height and help guide management
If we think pathology then do some labs:
1. IGF1 and IGF binding protein 3 - screening tests
2. if these suggest high HG then do a MRI of the pituitary
can consider chromosome in boys - especially if ratio of upper to lower is decreased (aka long legs) or if developmental disability
3. if suspect marfan or homocystinuria then refer to cardio/optho
4. TSH can be considered to rule out hyperthyroidism
5. consider the status of puberty - i.e. precocious or delayed - precocious leads to accelerated growth but shorter adult height
- delayed puberty can sometimes lead to prolonged growth and increased or normal adult height

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10
Q

Who to treat with tall stature?

A

> 3-4SD above the mean and evidence of significant psychosocial impairment
treatment choices:
- can consider sex steroids - need to give early in puberty to help with epiphyseal fusion
boys - before bone age 14 (can do testosterone ) - although used rarely
girls: oral estrogens - before bone age of 12
if needed add progesterone after 1 year of estrogen

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11
Q

Side effects of estrogen therapy in girls

A

benign breast disease, cholelithiasis, hypertension, irregular periods, weight gain, nausea, limb pain, galactorrhea and thrombosis
may have reduced fertility later in life
not that much experience so should look at risks and benefits
how it works: affects growth hormone axis as well as direct on epiphyseal fusion

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12
Q

treatment of klinefelter

A

can give testosterone in puberty to help with secondary sex characteristics, can diminish adult height

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13
Q

Which is the most common pituitary tumour in adolescents?

A

prolactinoma
clinical manifestations:
headache, amenorrhea, galactorrhea
more girls than boys - usually after initial puberty
labs: elevated prolactin levels
30% get hypopituitarism, especially GH deficiency

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14
Q

DDx for prolactinoma

A

primary hypothyroidism can lead to hyperprolactinemia and pituitary hyperplasia
can also get elevated prolactin with mediations - i.e. antipsychotics
pituitary dysfunction from craniopharyngioma
other benign conditions
Treatment: dopamine agonist bromocriptine or long acting cabergoline
if medical treatment is unsuccessful then do transsphenoidal surgery

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15
Q

What is the most sensitive indicator of excess glucocorticoid secretion in children?

A

growth failure - usually precedes other manifestations
Cushing’s disease - when you have a ACTH producing pituitary adenoma **more common than primary adrenal causes of Cushing syndrome except in younger kids (more likely to have adrenal carcinomas)

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16
Q

McCune Albright syndrome

A

cafe au lait (coast of main)
fibrous dysplasia
precocious puberty

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17
Q

How to diagnose GH excess?

A

failure to suppress GH levels with glucose challenge
single measurement is not adequate
elevated IGF1 will increase suspicion of GH excess
if suggest GH excess then should do a MRI brain

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18
Q

Causes of excess GH secretion

A

pituitary - rare most common is pituitary adenoma
Other tumours: i.e. MEN syndromes from pancreas tumours
get gigantism if open growth places, acromegaly if after
syndromes: McCune Albright can cause increased GH
increased GH with tumours associated with neurofibromatosis, Tuberous Slerosis and Carney

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19
Q

Treatment of excess GH

A

pituitary adenoma - resection of tumour
pituitary irradiation and medical therapy
medical therapy: somatostatin analogues - ie octreotide
if also have prolactin over secretion, also do a dopamine agoniest (i.e. bromocriptine)
Pegvisomant - GH receptor antagonist

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20
Q

A child is born >90th percentile for length and weight at birth, as well as increased HC
rapidly growth and is 99th percentile by age 1 .
kid has large dolichocephalic head (dolicocephaly is a long head) , hypertelorism, down slanted palpebral tissues (nelson says antimongoloid, so racist), high arched palate,
what syndrome should you think of?

A

SOTOS syndrome:
large hands and feet with thickened SC tissue, clumsy and awkward gain, and trouble with sports
most have some developmental disability
usually bone age consistent with chronological age
common to have abnormal EEG, can have dilated ventricles on imaging
can have increased risk of cancer: especially hepatic carcinoma, Wilms, ovarian and parotid tumours

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21
Q

Large Neonate - Differential

A

most common cause - maternal diabetes (even without clinical symptoms or FHx)
Syndromes:
- Beckwith-Wiedemann is most common - clinical features at birth: microsomia with macroglossia, hepatosplenomegaly, nephromegaly and omphalocele
hypoglycaemia from hyperinsulinemia from pancreatic beta cell hyperplasia
increased chance of cancers: Wilms timor and adrenocortical carcinoma
imprinting disorder

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22
Q

Definition of precocious puberty

A

secondary sex characteristics
before 8 years in girls
before 9 years in boys

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23
Q

How does puberty start

A

gonadarche - pulsatile GnRH -
leads to LH and FSH secretion
adrenocortical androgens also have a role in puberty - increased DHEA and DHEAS happens at 6-8 yeas of age, before any change in LH or sex hormones - aka adrenarche
adrenarche usually before gonadarche by a few years, but are NOT causally related

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24
Q

which hormone more related to ultimate epiphyseal fusion and osseous maturation, estrogen or androgen?

A

estrogen more likely

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25
Age of onset of puberty - more closely correlated with bone age or chronological age?
more correlated with bone age
26
Stepf of puberty in girls
breast - most common (occasionally can be adrenarche first) pubic hair - 6-12 months after from boobs two period usually 2-2.5 year but can be as long as 6 years nomal age for puberty in girls 8-13 to start at least 1 sign
27
When is the peak height velocity in firs?
at breast stage 2-3 usually between age 11-12 | ALWAYS before menarche
28
First sign of puberty in boys
testicular growth >4ml in volume or 2.5 cm in diameter and thinning of scrotum pigmentation of scrotum and penis growth and pubic hair axillary hair ->mid-puberty
29
When is the peak height velocity in boys?
later that girls (can be by 2 years) and can continue growing beyond age 18 usually maximum at genital stage IV-V (typically age 12-14)
30
classification of precocious puberty
central - gonadotropin dependent - alwasys isosexual peripheral - independent peripheral puberty, can have some secondary precocious puberty, but don't activate the normal HPgonadal axis - can have isosexual or heterosexual characteristic of puberty peripheral puberty can start the HPG axis and start central puberty->i.e. in CAH, McCune-Albright and familial male limited precocious puberty - bone age reaches the pubertal range
31
Definition of central precocious puberty
breast at 4ml in boys before age 9 from early activation of HPG axis occurs more in girls than boys and usually sporadic development follows normal sequence periods may be more irregular grow and kids are shorter may be more emotional but unlikely to have series psychological problems
32
central precocious puberty - who is more likely to have a CNS pathology girls or boys
more likely in boys (up to 75% of bodys with central precocious puberty)
33
Central precocius puberty ->labs
1. sex hormones usually appropriate for the stage of puberty: estradiol low or undetectable in early phase of sexual precocity (as they are in normal puberty) , in boys - testosterone are detectable or elevated by the time they seek medical attention 2. GnRH stimulation test - look at Lh/FSH ratio in response to that - > will have LH>FSH early in course of precocious puberty; in girls can have lower LH response bone age - advanced (often by 2-3 standard deviations) 3. MRI - physiologic enlargement of the pituitary gland, can also have CNS pathology DDx - gonadotropin indépendant causes: (since sometimes peripheral puberty can lead to central HPG activation) includes: girls: ovarian tumors, autonomously functioning ovarian cysts, adrenal tumors, McCune-Albright syndrome, exogenous estrogen boys: CAH, adrenal tumours, Leydig cell tumors, HCG tumors, and familial precocious puberty
34
Treatment of precocious puberty
GnRH agonist therapy - i.e. since will have constant stimulation instead of pulsatile Lupron is the most common
35
side effects of Lupron:
sterile fluid collections at the injection site - most troublesome side effect treatment is to decrease growth rate and decrease the rate of osseous maturation (most significant decrease) leads to height approximately 1SD less than mid-parental height in firs can regress the breasts, hair doesn't or progresses, periods cease in bosy, testicles decrease, pubic hair decreases and erections decrease
36
side effects of lupron
decrease bone density (reversible) sterile fluid collection get decrease in the sex hormones but then puberty resumes itself
37
most common brain lesion that causes precocious puberty (central)
hypothalamic hamartoma other brain lesions: other CNS lesions and insults, optic tract tumours (optic tract glioma)- in NF1 most common cause of central puberty , other ones long list
38
A patient with radiation for leukaemia presents with precocious puberty, what is the cause?
low does radiation, faster puberty in girls, high dose, in both sexes, if younger then have more sexual precocity can have other associated conditions can also have GH deficiency as an effect Treatment : GnRH analogs
39
Untreated hypothyroidism what is the course of puberty
usually delayed until epiphyseal maturation reaches 12-13 year of age BUT can have precocious puberty in 50% of kids with longstanding severe hypoT cause of hypo usually Hashimoto elevated TSH, and mild increase prolactin, although have low FSH and LH, the TSH interest with the FSH receptor and starts to have FSH like effects testicular enlargement without testosterone treatment of hypoT will lead to reversal of the manifestations
40
McCune Albrith syndrome
cutaneous pigmentation and fibrous dysplasia of the skeletal system causes peripheral precocius puberty, which can then induce pituitary, thyroid and drenal changes, can lead to central precocious puberty (i.e. when the bone age reaches the usual pubertal age, start having GnRH pubertal) mainly have precocious puberty in girls average age at onset is 3 years, but have seen vaginal bleeding as early as 4 months and secondary sex as early as 6 mo suppressed LH and FSH and no response to GnRH stimulation extra gonad findings: 1. thyroid - hyperthyroid 2. Cushin syndrome - bilateral adrenocortical hyperplasia 3. uncommon secretion of growth hormone 4. increased prolactin in most 5. phosphaturia - can lead to ricks or osteomalcia (most common)
41
male who had precocious puberty at age 2-3 years, son has precocious puberty also
rare, autosomal dominant from male patients and unaffected female carriers to male offspring testes only slightly enlarged elevated testosterone levels to those with precocious puberty LH are prepubertal, don't have pulsatile LH/GnRH
42
treatment of familial gonadotropin independent precocious puberty
aromatase inhibitors ketoconazole | antiandrogens/
43
Premature thelarche
breast development in first 2 years of life can be at birth and persist unilateral or asymmetric growth and bones - nomal or slight advanced genitals no estrogen stimulation breasts regress, rarely progressive make sure to get a good history and do a bone age (should NOT be advanced) usually benign but can be the first start of central or peripheral precocious puberty low FSH/LH and estradiol low and not diagnostic make sure to keep observing regression and recurrence - suggest follicular cysts rarely need pelvic US
44
thelarche in 4 year old, most likely cause?
NOT likely to be benign premature thelarche in kid >3 year old
45
what is premature pubarche (aka adrenarche)
sexual hair before age 8 in girls or age 9 in boys WITHOUT other evidence of maturation can get axillary door also axillary hair happens later children are slightly advanced in height and bone age
46
What causes premature adrenarche
early maturation of adrenal androgen production if have any features of systemic androgen effect (marked growth acceleration, clitoral/phallic advancement, acne, advanced bone age) ->should do a ACTH stim test with 17OHP - need to rule out nonclassicl CAH steroids and DHEAS are comparable to older children in early stages of normal puberty
47
premature adrenarche - benign or pathologic?
usually considered a benign condition, but 50% of girls are at risk for hyperandrogenism and PCOS as well as insulin resistance (i.e. DM2, dyslipidemia, hypertension, increased abdo fat)
48
Causes of isolated vaginal bleeding in children
premature menarche is rare | more common causes are vulvovaginitis, foreign body, sexual abuse, uretheral pro laps and sarcoma botryoides
49
Medications which can cause puberty signs:
estrogens (including OCP) steroids estrogen in creams contamination of meats with estrogen (exogenous estrogen can get darkening of areola) testosterone cream can cause virilization changes reverse after stop hormones
50
sensitive indicator of hypothyroidism
TSH level | after neonatal period the normal level is less than 6
51
why is the baby of a hypothyroid mother at risk of hypoT?
because maternal T4 crosses the placenta and is important for brain development the amount of T4 that crosses the placenta is not enough to interfere with diagnosis of congenital hypothyroidism in neonate
52
how does the level of TSH change after birth?
at birth - acute release of TSH - decline in next 24 hours then gradual decline in 5 days acute increase in TSH leads to increase of T4 preterm infants have the similar trend but lower numbers than full term T4 and T3 proportional to gestational age and birth weight
53
which type of study for thyroid dysgenesis (aka ectopic gland) U/S or radionucliotide
radio nucleotide are better for ectopic gland
54
Causes of hypothyroidism
Primary 1. Defect of fetal thyroid development - i.e. dysgenesis 2. defect in hormone synthesis - dyshormonogenesis 3. TSH unresponsiveness 4. Defect in thyroid hormone transport 5. iodine deficiency - endemic goiter ***most common cause of congenital hypothyroidism world-wide 6. maternal antibodies - thyrotropin receptor blocking antibody 7. maternal medications: - iodides, amiodarone, propylthiouracil, methimazole, radioiodine Central different mutations causing hypotituitarism TSH deficiency - mutation in TSH subunit gene craniopharyngioma TRH deficiency (hypothalamic problem) TRH unresponsiveness or mutations in TRH receptor
55
Congenital hypothyroidism - true or false, most cases are hereditary?
false, most are from thyroid dysgenesis most are detected by newborn screening if not, usually features in first few weeks of life
56
Causes of congenital hypothyroidism
``` #1: thyroid dysgenesis - 80-85% (33% are aplasia, aka no thyroid tissue, 66% have ectopy) - thought to be from deleterious factor during intrauterine life, potentially eternal antithyroid antibodies #2: inborn error of thyroxine synthesis - autosomal recessive, often have a goitre #3: transplacental maternal thyrotropin receptor blocking antibody ``` $4: fetal exposure to excessive iodides (can be from washes with iodine also)
57
Clinical manifestations of congenital hypothyroidism
``` most are asymptomatic at birth transplacental passage of maternal T4 however will still have low T4 and high TSH on newborn screening more in girls than boys 1. normal BW and length, head size may be increased 2. prolonged physiologic jaundice 3. feeding difficulties 4. respitaroy difficulties (apnea, noisy, nasal obstruction) 5. RDS 6. constipation 7. lrge abdo and umbilical hernia 8. cold 9. macrocytic anemia ```
58
congenital anomalies associated with congenital hypothyroidism
most common: cardiac anomalies other: CNS and eye can have associated hearing loss
59
congenital hypothyroidism over time
``` MR progressing growth stunted normal or increased HC open anterior and posterior fontanels (only 3% of normal newborns have posterior fontanel >0.5 cm) mouth with big tongue ```
60
labs in congenital hypo T
many programs start with T4, if low then do TSH however may not pick up kids with delayed TSH elevation or with hypothalamic or pituitary hypothyroidism delay of bone development can have wormian bones delayed teeth cardiac enlargement or pericardial effusion to look for the gyroid, need to do scintigraphy ECG/Echo - suggest pericardial effusion in >2 year old can have increased cholesterol can have low voltage EEG
61
Treatment of hypothyroidism (congenital0
levothyroxine initial starting dose 10-15 ug/kg/day - tailor to the severity of hypothyroidism want to get normal T4 and T3 (this is the goal) but there are negatives with overdosing (see below) levels should be monitored (serum T4 or free T4 and TSH) - monthly first 6 months then 2-3 months till age 2 keep normal later may need to confirm the diagnosis - since some kids have transient hypothyroidism and no longer need the replacement if you don't treat get irreversible MR and growth delay
62
side effects of levothyroxine
craniosynostosis and temperament problems with overdosing
63
Causes of acquired hypothyroidism
``` #1: chronic lymphocytic thyroiditis other; 2. polyglandular syndromes 3. Associated with autoimune conditions: - Down syndrome, turner, DM1, Sjogren, MS, pernicius anemia, Addison, ovarian failure 4. Williams syndrome 5. thyroidectomy 6. irradiation 7. medications: - amiodarone (in 20% of treated children ), treatment with anti-thyroid drugs (methimazole, PTU), lithium, INF alpha, , thalidomide, valproate 8. cystinosis 9. langerhans cell histiocytosis 10. chronic hep C 11. hemangiomas 12. hypothalamic or pituitary disease ```
64
first clinical sign of hypoT
``` deceleration of growth goitre can be presenting weight gain myxedema more sleep schoolwork and grades do NOT suffer except when severe!!!!! other: bradycardia, muscle weakness, nerve entrapment, ataxia delayed bones delayed puberty younger kids can have precocious puberty galactorhea - TRH stimulates prolacting ```
65
investigations for hypoT
TSH and free T4 usually no indication for imaging bone age to see how much delay - helps estimate the duration and severity of hypoT if goitre, U/S will show scattered hypoechnogenicity
66
treatment of hypoT
levothyroxine monitring treatment: free TSH and T4, if central hypoT, TSH will not be helpful , want to keep the T4 in upper half of normal
67
older kid with hypoT, after catch up growth complete how to monitor therapy
growth rate is great | bone age also helpful t monitor treatment and future growth potential
68
Hashimoto thyroiditis aka lymphocytic thyroiditis
most common cause of thyroid disease in children most common cause of acquired hypothyroidism, with or without goitre autoimmune
69
Antibotides in Hashimoto
1. thyroid antiperoxidase antibodies - inhibit enzyme activity, stimulate NK cell cytotoxicity 2. antithyroglobulin antibodies - do not play a role in autoimmune destruction of the gland * *in 90% of children with Hashimoto and in patients with Graves diseae
70
Hashimoto key facts
2-4 x more in girls usually most common in teens (but can happen in first 3 years of life) clinical manifestations most common: - goiter - growth retardation usually the gland is diffusely enlarged, gland is lobular and can be nodular can get opthalmopathy, sometimes can have some hypothyroidism manifestations too (weird)
71
Hashimoto clinical progression
goitre can go away or stay or disappear, can acquired hypothyroidism or it can get better too familial tendencies - incidence in siblings or parents - can be as high as 25%
72
syndromes associated with Hashimoto
1. autoimmuen polyglandular syndromes : APS 1 - autoimmune polyendocrinopathy, candidiasis, ectodermal dysplasia;; consists of 2 of the triad of hypopara T, Addion and mucocutaneous candidiasis APS 2: Addison disease, T1DM or autoimmune thyroid 2. Pernicius anemia 3. vitiligo 4. alopecia 5. increased in kids with congenital rubella 6. chromosomal disorders: Turner, Down, Klinefelter
73
Labs in Hashimoto
often normal T4 and TSH but can be slight or moderately elevated in some patients antithyroid antibodies in young kids, TPO is the most common antibody found (antithyroblobulin positive in <50% of young children); in tens both autoantibodies are equal
74
thyroid nodule in kid with Hashimoto what to do
FNA aspiration
75
Other causes of thyroiditis other than hashimoto
1. acute suppurative thyroiditis - preceded by resp infection, can get abscess, organisms usually anaerobes, viridans strep, S. Aureus and pneumococcus are most common. get a tender thyroid bland, thyroid function usually normal but can get thyrotoxicosis 2. subacute granulomatous thyroiditis: URTI with tender thyroid, get mild hyperthyroidism other causes are rare (include TB, sarcoid, mumps and cat-scrath disease)
76
Congenital Goiter causes
1. fetal thyroxine synthetic defect 2. administer of antithyroid drugs or iodides during pregnancy 3. congenital graves disease 4. defect in thyroid hormone synthesis