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RC Peds Endo 2023 > Syndromes + Tumour Syndromes > Flashcards

Syndromes + Tumour Syndromes Flashcards

1
Q

Carney Complex
- gene
- features

A
  • protein kinase A type I-alpha regulatory subunit gene (PRKAR1A)
  • AD inheritance

1) Lentiginous (Distinctive pigmented lesions of the skin and mucosal surfaces)

2) Cardiac and non-cardiac myxomatous tumors
- Cutaneous myxomas (benign dermal tumors): eyelids, external ear canal, areolae
- Cardiac myxoma
- Benign breast tumors: Myxomas, myoxoid fibroadenomas, ductal adenomas with tubular

3) Multiple endocrine tumors
- Primary pigmented nodular adrenocortical disease (ACTH-independent CS)
- Asymptomatic GH hypersecretion
- Large cell calcifying Sertoli cell tumor
- Thyroid nodules: Usually euthyroid; thyroid ca (papillary and follicular) <10%
- Ovarian cysts, serous cystadenoma, teratomas, endometrioid carcinoma

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2
Q

syndromes associated with adrenal corticocarcinoma

A
  1. Hemihypertrophy syndromes like Beckwith-Wiedemann Syndrome
  2. Germline mutations or loss of heterozygosity of p53 tumour suppressor gene ie Li-Fraumeni Syndrome
  3. MEN1
  4. FAP (Familial adenomatous polyposis)
  5. Carney Complex
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3
Q

MAS features

A
  • CAL
  • Pre Puberty
  • Polyostotic fibrous dysplasia
  • Functioning thyroid adenoma (accept hyperthyroidism)
  • Cushing Syndrome (in neonates)
  • Pituitary adenoma
  • Sudden death from cardiac arrhythmia
  • Hypophosphatemic rickets/osteomalacia (accept hypophosphatemia)
  • Hepatobiliary disease
  • Intestinal polyps
  • Scoliosis
  • Growth hormone excess
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4
Q

Turner syndrome
- how to dx
- most common karyotype

A

Phenotypic females with a karyotype containing one x chromosome and complete or partial absence of the second sex chromosome associated with >/= 1 typical clinical manifestation of Turner Syndrome
45XO = 40-50%
45X/46XX (mosaicism) = 15-25%

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5
Q

Turner syndrome - increased AI d/o

A

T1DM
Autoimmune thyroid disease
Celiac disease
Inflammatory bowel disease

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6
Q

Turner syndrome - increased met conditions

A

Obesity
T2DM
Dyslipidemia

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7
Q

gene for PPGL syndromes

A
  • SDH
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8
Q

ROHHAD = stands for

A

Rapid onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysfunction

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9
Q

ROHHAD hypothalamic problems

A

GH deficiency
Central precocious puberty
Hypogonadotropic hypogonadism
DI
Hypothyroidism
Hyperprolactinemia
ACTH deficiency

Hypoventilation

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10
Q

when does ROHHAD start to gain weight

A

2-4 yrs of age there is hyperphagia and rapid weight gain

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11
Q

ROHHAD Autonomic dysfunction

A

Blurred vision
Altered pupillary response to light
Strabismus
Ptosis
GI dysmotility with chronic constipation or diarrhea
Bradycardia
Excessive sweating
Thermal dysregulation
Urinary incontinence
Syncope

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12
Q

how to dx ROHHAD

A

no genetic testing

rapid-onset obesity starting in early childhood & alveolar hypoventilation during sleep
signs and symptoms of hypothalamic dysfunction and autonomic disturbances
exclusion of other condition causing similar features, such as congenital central hypoventilation syndrome

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13
Q

features of klinefelter

A

o Growth
○ Tall stature
· extra SHOX
○ Decreased upper segment-lower segment ratios
o Puberty
○ Cryptorchidism
○ Micropenis
○ Small, firm testes
○ Hypergonadotropic hypogonadism
○ Infertility
○ Gynecomastia
o Congenital malformations
○ Inguinal hernia
○ Cleft palate
o Behaviour/Learning
○ Learning difficulties
○ Speech Delay
○ Behaviour difficulties/impulse control
○ Psychiatric disturbances
○ Increased rate of criminal behaviours
o Increased risk
○ Breast cancer
○ T2DM
○ Metabolic syndrome
○ Abdominal adiposity
○ Osteopenia, fracture
○ Extragonadal Germ cell (HCG secreting) tumors -> can cause precocious puberty
○ Epilepsy
○ Cerebrovascular disease
○ Intestinal vascular insufficiency
○ Non-Hodgkin lymphoma
○ Lung ca

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14
Q

puberty / fertility in Klinfelter

A

start puberty on time
initially FSH, LH, and testosterone normal

mid puberty Testes become firm and are rarely larger than 3.5 cm in diameter
seminiferous tubules undergo hyalinization and fibrosis,
adenomatous changes of the Leydig cells
impaired spermatogenesis

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15
Q

Kline felter labs in adult

A

Decreased: Testosterone, inhibin B, AMH
Increased: LH, FSH, estradiol, SHBG

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16
Q

47XYY -
features
puberty and fertility

A

macroorchidism
macrocephaly
learning disabilities such as speech delay and dyslexia
ASD
ADHD
not usually aggressive behaviour

genitals normal usually
but can have micropenis, cryptorchidism, and hypospadias

puberty usually normal
but inhibit doesn’t rise

increased of infertility

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17
Q

Congenital anomalies Klinefelter vs Turner

A

KS:
Cleft palate
Inguinal hernia

TS:
High arch palate
Renal anomalies

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18
Q

Klinefelter puberty

A

Small firm testes
Hypergonadotropic hypogonadism
Delayed puberty
Gynecomastia
Infertility
Cryptorchidism

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19
Q

Turner syndrome puberty

A

Streak ovaries
Hypergonadotropic hypogonadism
Delayed puberty
Widely spaced nipples, shield chest (80%)
Infertility

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20
Q

Turner syndrome MSK features

A

Short stature
Osteopenia, fractures, vitD deficiency
Scoliosis, kyphosis
Short, webbed, neck
Cubitus valgus (80%)
Genu valgum (60-80%)
Hyperextension of great toe (80%)

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21
Q

how to dx Turner syndrome

A

standard 20-cell karyotype
- repeat post natally if dx prenatally

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22
Q

high risk aortic dissection

A

Child birth
Bicuspid aortic valve
Coarctation
Hypertension
Elongation of the transverse aorta

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23
Q

how much will GH increase Turner syndrome final height

A

about 5-8cm

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24
Q

when to stop GH in TS

A

wbone age ≥14y.o and GV <2cm/yr

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25
Q

when to start E in TS

A

age 11-12
increase over 2-3y

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26
Q

increased chance of spontaneous puberty in TS?

A

spontaneous puberty
mosacism
normal FSH
normal AMH
normal astral follicle count

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27
Q

screening for cardiac before pregnancy in TS

A

*Structural abnormality: Aortic dilatation, bicuspid aortic valve, elongation of the transverse aorta, coarctation of the aorta
§ Imaging of the thoracic aorta and heart with a transthoracic echocardiography (TTE) and CT/cardiac magnetic resonance scan (CMR)

○ *Hypertension
§ Conservative goal of BP under 135/85.

*Exercise induced hypertension

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28
Q

Noonan syndrome gene

A

PTPN11
KRAS, RAF1

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29
Q

cardiac prob in noonan

A

generally right sided heart lesions - pulmonary stenosis/dysplastic pulmonary valve
Also mitral valve stenosis

30
Q

karyotype in noonan

A

normal

31
Q

Features of noonan

A

○ Skin
§ Multiple pigmented nevi (+TS)
§ Cafe-au-lait spots
○ Ortho
§ Scoliosis (+TS)
§ Pectus excavatum (+TS)
§ Short, webbed neck (+TS)
○ Ophtho
§ Strabismus, amblyopia (+TS)
§ Refractive errors (+TS)
§ Nystagmus
○ ENT
§ Otitis media (+TS)
§ Hearing loss (+TS)
§ Feeding problems
§ Articulation defects
○ Neuro
§ Psychological and behavioral challenges (+TS)
§ ASD, impaired social skills
§ Language delays
○ Hematology
§ Bleeding disorders
○ Endo
§ Short stature +/- GH deficiency (+TS)

○ Cardiac (+TS)
§ Mitral valve dysplasia
§ Pulmonary stenosis
§ Biventricular hypertrophy
○ Renal (+TS)
§ Hydronephrosis
§ Rarely horseshoe kidney
§ Variable, milder than in TS

32
Q

Endocrinopathies in MAS

A

1) Precocious puberty
2) Fetal/Neonatal Cushing
3) Thyroid nodule/hyperthyroidism
4) HyperPRL
5) GH excess
6) Hyperpara
7) FGF23 excess - renal phosphate wasting
-> rickets

33
Q

MAS - most common site of fibrous dysplasia

A

Proximal femurs & base of skull

34
Q

MAS - common deformity

A

“Shepherd’s Crook”

35
Q

first presentation of MAS

A

CAL

36
Q

CAL in MAS

A

“Coast of Maine” (jagged) border

Some association with the midline (i.e. “respect” the midline)

37
Q

thyroid in MAS

A

Hyperplasia and hyperfunction

Increased T4 to T3 conversion (T3-dominant biochemical phenotype)

adenoma

thyroid cancer is rare

38
Q

GH excess in MAS - what do you see

concerning association

A

always have skull base FD
Increased growth velocity
Coarsening of the facial features
Majority of patients also have hyperprolactinemia

Association with aortic root dilatation

39
Q

cancers in MAS

A

bone
breast
testicular
thyroidg

40
Q

genetics of PWS

A

Lack of expression of the paternally-inherited genes on chromosome 15q11.2-q13
(maternally imprinted)

typically sporadic mutation

causes:
○ paternal deletion, inherited from an unaffected father (75%)
○ maternal uniparental disomy (both copies from mom - 20%)
○ imprinting defect of this region (5%)

41
Q

Endo features in PWS

A

○ GH deficiency
○ Hypogonadism (hypothalamic but also testicular dysfunction - Lange)
○ Obesity (hypothalamic)
○ Diabetes
○ Central AI
○ Central hypothyroidism
○ Poor BMD
○ low E expenditure

42
Q

GH tx in PWS

A
  • get baseline sleep study, then 3-6m after starting and then annually
  • IGF1 after 3-6m then q6-12m
  • A1C annually
43
Q

what kind of hypogonadism in PWS?

A

both hypogonadotropic hypogonadism and primary gonadal failurep

44
Q

puberty in PWS males?

A
  • usually starts normally
  • arrest of pubertal progression typically occurs at Tanner stage 3, coinciding with testicular failure.
  • generally thought to be infertile
  • Inhibin B, a marker of spermatogenesis and Sertoli cell function, is low or undetectable in most adolescents and adults, which is when testicular failure is most evident
  • testosterone replacement in delayed or incomplete puberty, usually by age 15–16 years
45
Q

puberty in PWS females

A

hypogonadotropic hypogonadism and primary gonadal failure

  • born with hypoplasia of external genital with labia minora and clitoral hypoplasia
  • Onset of puberty with breast development typically occurs a a normal age, but progression of breast tissue to Tanner 3 and 4 is usually significantly delayed (very few reach tanner 5)
  • Most do not progress to menarche, or if they do, will have oligomenorrhea

Labs
○ Estrogen low normal
○ LH low normal
○ FSH variable = indicative of mixed central and primary effects
○ Inhibin B, a measure of gonadal function, is reported to be low in most adult females with PWS
§ Subset of PWS females may have preservation of fertility

46
Q

how to deal wi th hypoBG in RSS

A

not glucagon - poor stores of glycogen

ketone meter at home to detect when to come in

ER for IV dextrose

GH can help

47
Q

GH in RSS

A

don’t do GH stim!

start GH around age 2-4y for:
○ improve body composition (especially lean body mass),
○ Improve psychomotor development
○ Improve appetite
○ reduce the risk of hypoglycaemia
○ optimise linear growth

measure IGF1 and IGFBP3 at least yearly

48
Q

BWS syndrome
feature

A
  • Hyperinsulinism
  • Hemihypertrophy
  • Abdo wall defects
  • Macroglossia
  • Macrosomia
  • Abnormal ear creases - transverse
  • Tall stature
  • Kidney abnormalities
49
Q

Homocysteinuria

features

A

○ Marfanoid habitus characterized by arachnodactyly, pectus excavatum, and scoliosis
○ Eye disease
§ nearsightedness and inferior lens dislocation
○ Intellectual delay
○ Osteoporosis
○ Increased risks of thromboses

○ No cardiac problems (like in marfan)
○ FHx thromboembolic events
○ FHx calcium oxalate stones is more consistent

50
Q

how to dx homocysteinuria

A

serum homocysteine and methionine levels, which would be elevated in an amino acid profile

51
Q

endo abnormality in Williams and why

A

hyperCa
increased absorption

52
Q

Peutz-Jeghers syndrome
features

A

GI tract polyps
freckling on the lips, eyes, nostrils, fingers, and in and around the mouth
girls: increased risk of developing benign ovarian tumors that can cause peripheral precocious puberty

53
Q

genetics DMD

A

Dystrophin gene

54
Q

features MEN1

A

1) Hyperparathyroid/Parathyroid Hyperplasia/Adenoma
2) Enteropancreatic tumours
*PRLoma > GHsecreting
3) Pituitary Adenoma
*Gastrinoma > insulinoma

Other: DERM, 2ADR, NET
Adrenocortical tumour
Pheo ++ rare
Lipoma, Collagenoma, Angiofibroma, Meningioma
NETs: bronchopulmonay, thyme, gastric

55
Q

Screening in MEN1

A

at age 5(-8)
- PRL/GHoma - PRL and IGF1 + MRI
- Insulinoma: FBG + Insulin
- Parathyroid: PTH, Ca

<10yo
- Adrenal:

56
Q

Genetics of MEN1

A

MEN1 gene
MENIN protein
AD
loss of function of tumour suppressor
no hot spot

57
Q

Endocrine specific tumours in MEN1

A

Pituitary adenoma

Enteropancreatic tumour can be:
- Insulinoma
- Gastronome
- GHRH secreting
- Glucagon- or VIP-producing tumors,
- somatostatinomas
PTHoma

ACC

58
Q

most common and earliest manifestation of MEN1

A

parathyroid

59
Q

Gastrinoma assoc w what syndrome

A

Zollinger Ellison

60
Q

PIt adenoma in MEN1 - what H

A

PRL>PRL+GH»ACTH>GH

61
Q

Adrenal tumour in MEN1
what kind
what do they secrete

A

<10% have hormonal hypersecretion
· Primary hyperaldo
· ACTH independent Cushings

–Adrenal adenomas
· Cortisol-producing (however, most hypercortisolemia in MEN1 is due to pituitary disease)
–Adrenocortical Tumors (benign & malignant)
- Cortisol, Androgens

Pheo rare

62
Q

when to start screening for PHEo in MENS

A

MEN2A: 5yo
MEN2B: 3yo

not in MEN1

63
Q

when to start screening for parathyroid in MENs

A

1: 8 yo
2A: 10yo
2B: n/a

64
Q

how to prep for adrenalectomy for pheo

A

· Alpha adrenergic blockade first, then beta adrenergic blockade
· Restore normal intravascular volume
Then unilateral adrenalectomy and monitor the other side (rather than bilateral adrenalectomy at the get go)

65
Q

TTx in MEN2 - important points

A

by age 6m-1y in 2B
by age 5y in 2A

remove pheo first if present!!

66
Q

PPLG
- what kind of mutation usually
- who should get genetic testing

A

An underlying somatic mutation can be detected in 65-80% of all PPGL

Somatic = not heredity
Genetic testing is recommended for all patients with a pheo or PGL

67
Q

features NF1

A
  • Café-au-lait spots
    • Subcutaneous neurofibromas
    • Axillary and inguinal freckles
    • Neural gliomas (optic nerve)
    • Harmartomas of the iris (Lisch nodules)
    • Endocrine neoplasias
      ○ Pheochromocytoma
      ○ HyperPTH
      ○ MCT
      Somatostatin-producing carcinoid tumors of the duodenal wall
68
Q

Macrocephaly, ASD and thyroid nodule

A

-> think PTEN

69
Q

most common tumours in PTEN

A

breast
thyroid

70
Q

Cancer in Lifraumeni

A

ACC -> ACTH indep Cushing
Breast Ca
Sarcoma
CNS tumour
GI tumour
Leukemia
Melanoma

RC Peds Endo 2023 (17 decks)

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