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Endocrine MRCP > Rogue syndromes > Flashcards

Rogue syndromes Flashcards

1
Q

What is the inheritance of Bartter’s syndrome?

A

Usually autosomal recessive

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2
Q

What does Bartter’s syndrome cause?

A

Severe hypokalaemia due to defective NA-K-Cl co-transporter at ascending loop of Henle

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3
Q

What are the features of Bartter’s syndrome?

A

Hypokalaemia - muscle weakness
Normotension
Polyuria, polydipsia
Normally presents in childhood - failure to thrive

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4
Q

What is the inheritance of galactosaemia?

A

Autosomal recessive

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5
Q

What does galactosaemia cause?

A

Intracellular accumulation of galastose-1-phosphate due to absence of galastose-1-phosphate uridyl transferase

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6
Q

What are the features of galactosaemia?

A

Jaundice, failure to thrive
Hepatomegaly
Cataracts
Hypoglycaemia after exposure to galactose
Falcon syndrome

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7
Q

What is Gittelman’s syndrome?

A

Defect in thiazide sensitive NaCl transporter in distal convoluted tubule

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8
Q

What are the features of Gitelman’s syndrome?

A

Normotension
Hypokalaemia
Hypomagnasaemia
Hypocalciuria
Metabolic alkalosis

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9
Q

What is the inheritance of Kallman’s syndrome?

A

C linked recessive

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10
Q

What is Kallman’s syndrome?

A

Failure of GnRH secreting naurons to migrate to hypothalamus causing hypogonadotropic hypogonadism

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11
Q

What is the classic presentation of Kallman’s syndrome?

A

Delayed puberty and anosmia

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12
Q

What is seen on bloods with Kallman’s syndrome?

A

Sex hormones: low
FSH and LH: low

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13
Q

What is Kallman’s syndrome associated with?

A

Cleft lip/palate
Visual/hearing defects

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14
Q

What is the karyotype of Klinefelter’s syndrome?

A

47XXY

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15
Q

How is Klinefelter’s syndrome diagnosed?

A

Chromosomal analysis

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16
Q

What are the features of Klinefelter’s syndrome?

A

Tall
Lack of secondary sexual characteristics
Small, firm testes
Infertility
Gynaecomastia

17
Q

What is seen on bloods in Klinefelter’s syndrome?

A

Elevated gonadotrophin levels (LH)
Low testosterone

18
Q

What is Klinefelter’s syndrome?

A

Primary hypogonadism

19
Q

What is Liddle’s syndrome?

A

Disordered sodium channels at distal tubules, leading to increased reabsorption of sodium

20
Q

What is the inheritance of Liddle’s syndrome?

A

Autosomal dominant

21
Q

What is the treatment of Liddle’s syndrome?

A

Amiloride or triamterene

22
Q

What is the inheritance of Pendred’s syndrome?

A

Autosomal recessive

23
Q

What is Pendred’s syndrome?

A

Defect in organification of iodine, causing dyshormogenesis

24
Q

What are the features of Pendred’s syndrome?

A

Progressive bilateral sensorineural hearing loss with mild hypothyroidism and goitre

25
Q

How is Pendred’s syndrome?

A

Genetic testing - Pendred syndrome gene on chromosome 7
MRI - 1.5 turns only of cochlea
Audiometry

Endocrine MRCP (4 decks)

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