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RC Peds Endo 2023 > Syndromes + Tumour Syndromes > Flashcards

Syndromes + Tumour Syndromes Flashcards

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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
when to start E in TS
age 11-12 increase over 2-3y
26
increased chance of spontaneous puberty in TS?
spontaneous puberty mosacism normal FSH normal AMH normal astral follicle count
27
screening for cardiac before pregnancy in TS
*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
28
Noonan syndrome gene
PTPN11 KRAS, RAF1
29
cardiac prob in noonan
generally right sided heart lesions - pulmonary stenosis/dysplastic pulmonary valve Also mitral valve stenosis
30
karyotype in noonan
normal
31
Features of noonan
○ 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
Endocrinopathies in MAS
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
MAS - most common site of fibrous dysplasia
Proximal femurs & base of skull
34
MAS - common deformity
“Shepherd’s Crook”
35
first presentation of MAS
CAL
36
CAL in MAS
“Coast of Maine” (jagged) border Some association with the midline (i.e. “respect” the midline)
37
thyroid in MAS
Hyperplasia and hyperfunction Increased T4 to T3 conversion (T3-dominant biochemical phenotype) adenoma thyroid cancer is rare
38
GH excess in MAS - what do you see concerning association
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
cancers in MAS
bone breast testicular thyroidg
40
genetics of PWS
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
Endo features in PWS
○ GH deficiency ○ Hypogonadism (hypothalamic but also testicular dysfunction - Lange) ○ Obesity (hypothalamic) ○ Diabetes ○ Central AI ○ Central hypothyroidism ○ Poor BMD ○ low E expenditure
42
GH tx in PWS
- get baseline sleep study, then 3-6m after starting and then annually - IGF1 after 3-6m then q6-12m - A1C annually
43
what kind of hypogonadism in PWS?
both hypogonadotropic hypogonadism and primary gonadal failurep
44
puberty in PWS males?
- 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
puberty in PWS females
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
how to deal wi th hypoBG in RSS
not glucagon - poor stores of glycogen ketone meter at home to detect when to come in ER for IV dextrose GH can help
47
GH in RSS
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
BWS syndrome feature
* Hyperinsulinism * Hemihypertrophy * Abdo wall defects * Macroglossia * Macrosomia * Abnormal ear creases - transverse * Tall stature * Kidney abnormalities
49
Homocysteinuria features
○ 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
how to dx homocysteinuria
serum homocysteine and methionine levels, which would be elevated in an amino acid profile
51
endo abnormality in Williams and why
hyperCa increased absorption
52
Peutz-Jeghers syndrome features
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
genetics DMD
Dystrophin gene
54
features MEN1
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
Screening in MEN1
at age 5(-8) - PRL/GHoma - PRL and IGF1 + MRI - Insulinoma: FBG + Insulin - Parathyroid: PTH, Ca <10yo - Adrenal:
56
Genetics of MEN1
MEN1 gene MENIN protein AD loss of function of tumour suppressor no hot spot
57
Endocrine specific tumours in MEN1
Pituitary adenoma Enteropancreatic tumour can be: - Insulinoma - Gastronome - GHRH secreting - Glucagon- or VIP-producing tumors, - somatostatinomas PTHoma ACC
58
most common and earliest manifestation of MEN1
parathyroid
59
Gastrinoma assoc w what syndrome
Zollinger Ellison
60
PIt adenoma in MEN1 - what H
PRL>PRL+GH>>ACTH>GH
61
Adrenal tumour in MEN1 what kind what do they secrete
<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
when to start screening for PHEo in MENS
MEN2A: 5yo MEN2B: 3yo not in MEN1
63
when to start screening for parathyroid in MENs
1: 8 yo 2A: 10yo 2B: n/a
64
how to prep for adrenalectomy for pheo
· 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
TTx in MEN2 - important points
by age 6m-1y in 2B by age 5y in 2A remove pheo first if present!!
66
PPLG - what kind of mutation usually - who should get genetic testing
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
features NF1
* 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
Macrocephaly, ASD and thyroid nodule
-> think PTEN
69
most common tumours in PTEN
breast thyroid
70
Cancer in Lifraumeni
ACC -> ACTH indep Cushing Breast Ca Sarcoma CNS tumour GI tumour Leukemia Melanoma

RC Peds Endo 2023 (17 decks)

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