Kallmans Vs Klinefelters Vs CAIS/PAIS ☺️

Question 1

Etiology
Presentation
Investigations for Klinefelters

Answer 1

XXY47
Primary hypogonadism (high GnRH, low T)
-tall
-female fat distribution, gynecomastia
-sparse facial, axillary, body hair
-low muscle mass, strength
-small firm testes, penis, low libido

Chromosomal analysis

Question 2

Management of Klinefelters

• conservative
• pharmacological
• surgical and fertility

Answer 2

Conservative

• SALT and education/behavioural support at school
• OT to support dyspraxia
• Physio to build muscle mass, strength
• Psych for MH

Medical
-TRT once puberty starts => support normal development

Surgical

• breast reduction surgery
• ICSI/artificial insemination

Question 3

Etiology
Presentation
Investigations for Kallmans

Answer 3

X recessive hypogonadotrophic hypogonadism

• delayed puberty, no 2ndary characteristics
• hypogonadism, cryptorchidism
• ANOSMIA
• normal/tall height
• low FSH, LH, T
• cleft lip/palate, visual/hearing issues

Low GnRH, FSH, LH, T, O

Question 4

Management of Kallmans

-pharmacological

Answer 4

Medical

-TRT once puberty starts => support normal development

Question 5

Etiology
Presentation
Investigations for androgen insensitivity syndrome

Answer 5

X recessive
End organ T resistance in 46XY
-primary amenorrhea
-undescended testes (groin swellings)
-gynecomastia due to conversion of T to O
CAIS - female ext genitalia, no Mullerian or functioning Wollfian ducts
PAIS - ambiguous ext genitalia, no Mullerian, underdeveloped Wollfian ducts

Assess sex chromosomes
-XY found but phenotypically more female
-high T
US for int genitalia

Question 6

Management of CAIS, PAIS

• conservative
• pharmacological
• surgery

Answer 6

Gender identity conversations
-psych, MH support

Pharmacological
-HRT
=> O to develop 2ndary sexual characteristics, prevent menopausal symptoms, osteoporosis
=> T to develop 2ndary sexual characteristics

Surgery

• girls => remove testicles, vaginal surgery
• boys => move testicles into scrotum (reduce testicular cancer risk), breast reduction, address hypospadias