Kallmans, Kartageners, Turners and Klinefelters

Question 1

Kallmans inheritance pattern and Mechanism

Answer 1

X Linked recessive

GnRH neurons dont migrate to hypothalmus

Question 2

Kallmans Presentation

Answer 2

Classic: Anosmia in boy with delayed puberty

Hypogonadism
FSH/LH Low or Normal
Testosterone Low
Normal Height

Cleft palate or visual/hearing problems

Question 3

Kartageners Pathology

Answer 3

Dyenin arm defect = immobile Cillia

Question 4

Kartageners Presentation

Answer 4

Dextrocardia
Bronchiectasis
Recurrent Sinusitis
Subfertility

Question 5

Klinefelters is associated with

Answer 5

Karyotype 47 XXY

Question 6

Klinefelters Presentation

Answer 6

LH High
Testosterone Low

Tall height
Small firm testes
infertile
Gynaecomastia
No Secondary Sexual Characteristics

Question 7

Androgen Insensitivity Syndrome Pathology and genetic association

Answer 7

Failure of organ response to testosterone
X-Linked Recessive
46 XY

Question 8

Presentation of Androgen Insensitivity Syndrome

Answer 8

Undescended Testes
Gytnaecomastia
Primary Amenorrhoea

Question 9

Diagnosis of AIS

Answer 9

buccal smear or karyotyping

Question 10

Management of AIS

Answer 10

Rasie child as female and give oestrogen

Surgical removal of testes due to cancer risk

Question 11

Turnery Syndrome Karyotyping and who does it affect

Answer 11

45 X

Females

Question 12

Common features of turners

Answer 12

Short stature
shield chest with wide spaced nipples
Webbed neck
Bicuspid aortic valve or coarc of aorta
Shortened 4th metatacarpal
high arched palate
Amenorrhoea
Cystic Higroma
horseshoe kidney
High Gonadotrophins

Question 13

Management of turners

Answer 13

Growth Hormone Therapy

Question 14

ABG results in Hyperadolsteronism

Answer 14

Metabolic alkalosis with hypokalaemia