Sexual Development and Urology Conditions - Turners, DSD, Klinefelters, Kallmans, 5aR deficiency, Androgen insensitivity, Congenital adrenal hyperplasia, Hypospadias

Question 1

Describe the normal process of female sexual determination from the differentiation of the bipotential gonads => female reproductive organs

Answer 1

Gonads =(2 functioning XX)=> Functional ovaries

Ovaries produce O => Müllerian development
-Fallopian tube
-Uterus
-Upper 2/3d vagina

No T => No DHT => Wolffian regression
-Lower 1/3d vagina
-Ext female genitalia

Question 2

Describe the normal process of male sexual determination from the differentiation of the bipotential gonads => male reproductive organs

Answer 2

Gonads =(SRY gene on Y)=> Functional testes
-other genes involved are SOX9 on C17 2 causes formation, DAX1 on X 2 causes regression

Testes produce T => Wolffian development
-Epididymus
-Vas deferens
-Seminal vesicles

T => DHT
AMH => Mullerian regression
-prostate
-scrotum
-penis

Question 3

Turners
-pathophysiology
-presentation
-Dx, Ix
-Mx

Answer 3

XO
-only 1 functional X => streak ovaries

Short
1ary amenorrhea, poor pubertal dev
Low set ears, webbed neck
Broad chest, widely spaced nipples
Bicuspid AV, aortic coarctation

Amniocentesis
Karyotyping

GH, O, P
Support for complications

Question 4

SRY translocation (46XX DSD, 46XX testicular DSD)
-pathophysiology
-presentation
-Dx, Ix
-Mx

Answer 4

XX
-SRY on X => testes and T formation affected

Short
Small/absent testes, infertile
Gynecomastia

Genetic testing

GH, T
Mammoplasty

Question 5

Klinefelters
-pathophysiology
-presentation
-Dx, Ix
-Mx

Answer 5

XXY
-additional X interferes with testes formation

Tall (normally T=>O stops bone growth after puberty)
Lack of 2ndary male characteristics
No/pea sized testes
Gynecomastia, femenine

Karyotyping

T
Mammoplasty

Question 6

Kallmans
-pathophysiology
-presentation
-Dx, Ix
-Mx

Answer 6

Hypogonadotrophic hypogonadism

Tall
Lack of pubertal development
Anosmia

Low GnRH, FSH, LH
Genetic tests

HRT
GH

Question 7

5aR deficiency
-pathophysiology
-presentation
-Dx, Ix
-Mx

Answer 7

The lack of the conversion
T=(5AR)=>DHT

Prepuberty
-int male genitalia
-ext variable/female genitaliia

Postpuberty
-ext genitalia => virilised

Karyotyping
T:DHT

HRT
Surgery

Question 8

Androgen insensitivity
-pathophysiology
-presentation
-Dx, Ix
-Mx

Answer 8

Body does not respond to T

Varies on degree of insensitivity
Ranges from
-ext female genitalia, 1ary amenorrhea, inguinal mass
-ext male genitalia, gynecomastia

US
T, DHT
Karyotype

HRT
Surgery, remove int testes to reduce cancer risk

Question 9

Congenital adrenal hyperplasia
-pathophysiology
-presentation
-Dx, Ix
-Mx

Answer 9

21 hydroxylase deficiency => insufficient GC, MC
Too much ACTH made => too much A

At birth
-virilised if female
-salt wasting

Puberty
-acne, hirsutism
-oligomenorrhea

ACTH stim => low GC, MC, high A

GC (hydro), MC (fludro) replacement
Delay puberty
Surgery

Question 10

Hypospadias
-what is it
-presentation
-investigations
-management

Answer 10

Urethral meatus not on the tip of the penis
-may also be associated with crytorchidism and inguinal hernia

Ventral urethral meatus
Hooded foreskin
Ventral curvature of penis if severe

Identified on NIPE or by parents (abnormal urine stream) => specialist referral
If v distal - no treatment
Corrective surgery - 12 months, use foreskin in corrective procedure