DISORDERS OF SEXUAL DIFFERENTIATION (DSD)

Question 1

‘____________________ ‘ is the term used when the external genitalia of a newborn can not be assigned a male or a female by the immediate caregivers.

Answer 1

Ambiguous genitalia

Question 2

Several terms used in the past including ________,____________,_______________ etc are confusing and sometimes appear derogatory.

ESPE & LWPES in 2001 suggested the term “___________________” (DSDs)

Answer 2

ambiguous genitalia, intersex disorder, Hermaphrodites

Disorders of Sexual Differentiation

Question 3

46, XX DSD: this accounts for about _____% of all DSD, Karyotype is 46,XX

Excessive exogenous virilization
•_____________ substances
•Excessive androgen production by the ________ during _________ (___________ or _____________)

Endogenous virilisation
•Congenital Adrenal Hyperplasia
With salt loss: (3B HSD2),______(CYP21) 90%
Without salt loss (_____): _______(CYP11B1)
•______________ deficiency

Answer 3

60

Androgenic substances; mother

pregnancy ; ovarian ; adrenal tumor

21-OH-ase ; (HTN)

11-OH-ase ; Aromatase

Question 4

Aromatase is an enzyme that converts _________ into ___________, a key step in the biosynthesis of _________.

Answer 4

androgens

estrogens

estrogens

Question 5

46, XY DSD: This accounts for about _____% of all DSD
•___________ testicles
•XY sex reversal
– ______ gene mutation (15 %)
– Duplication of the _____ arm of ____ chromosome:
•Double dose of DAX-1
•Anomalies of Sox 9 (________ defect),
-WT-1 or SF-1

Answer 5

Dysgenetic testicles

SRY gene mutation

short ; X

skeletal defect

Question 6

46 XY DSD

Anomalies of testosterone or AMH synthesis

(a) Decrease in testosterone synthesis
–______ without virilization:
Deficiency in _______ (CYP11A)
Deficiency in _______ (3BHSD2)
Deficiency in ________/_________(CYP17)
–______________ in 17ßHSD (17BHSD3)

– (b) Decrease in AMH synthesis ( ______________________ Syndrome)

Answer 6

CAH; P450scc; 3ß HSD ; 17-OH-ase; 17-20 desmolase

Testicular Deficiency

Persistent Müllerian Duct

Question 7

46 XY DSD

Anomalies of testosterone action

– Anomalies of _____ synthesis:
•_____________ deficiency

–__________________ syndrome: androgen receptor defects or of co-activators

Complete AIS: _________________ syndrome
Partial AIS: (______________)

– Resistance to ______________ disruptors

Answer 7

DHT ; 5Alpha Reductase

Androgen insensitivity; testicular feminization

Reifenstein ; AMH Endocrine

Question 8

3. Ovotesticular DSD:
   Karyotype could be 46, XX (57 %), 46, XY/ 46, XX (30 %), 46, XY (13 %).

presence of _______________________________ ,
____________ is ambiguous,

one side could be _____________ structures and the other having ___________ structures and a feminine external genitalia.

Answer 8

Testicle and ovary or ovotestis

Internal genitalia; Mullerian ducts ; wolffian duct

Question 9

4. 45X, 46 XY DSD, Mixed gonadal dysgenesis.

presence of testicle and ovarian streak ___________________ internal genitalia and _____________ external genitalia

__________ syndrome stigmata in about 50%.
The Karyotype is __________/_________

Answer 9

mixture of male and female

ambiguous; Turner’s

46, XY/ 45, XO.

Question 10

Clinical presentation

In the newborn:
– Absence of ___________
– _________ ± _________
– Apparent female with ————— , inguinal _________ , or slight __________ enlargement
– Apparent male with ____________ , ___________ or unusual ______ genitalia or gonads

Answer 10

palpable testis

Micropenis ± cryptorchidism

inguinal masses; hernias ; clitoral

cryptorchidism ; hypospadias ; small genitalia

Question 11

Clinical presentation

During childhood and adolescence
– Girl with no _______ development or primary________
– Boys with ____________ and ___________
– Signs of __________ of an apparent girl at puberty

Answer 11

Breast; amenorrhea

gynecomastia ; testicular atrophy

virilization

Question 12

Work up of a patient with DSD

Family history and Pregnancy

Clinical examination: careful and detailed external genitalia examination and correct measurement with a clinical picture

Internal genitalia: _________ and __________, eventually ___________ ± _________

__________, FISH, molecular genetics

Answer 12

genitogram and USS

laparascopy; biopsy

Karyotype

Question 13

Work up of a patient with DSD

Hormones: Serum S 17-OH-P, Plasma-11- deoxycortisol , U-THS[Urinary tetrahydro-11- deoxycortisol].

Plasma __________ and ___________ at 1-3 month of life.

________ test to rule out Testosterone or DHT synthesis defects

Testosterone therapeutic trial: 25 mg of testosterone enanthate IM/ mo. X 3, increase > 1 cm in penis length

Answer 13

LH/FSH and Testosterone

HCG

Question 14

In a “resourced-constrained setting” like ours

Detailed history
Careful examination with clinical picture

__________ Scan-in an experienced hand
Internal genitalia- ____________ ± _________
? Buccal smear
Hormonal studies if available ± affordable Correspondence with experts(networking)

Answer 14

Ultrasound

laparoscopy/laparotomy ; biopsy

Question 15

Sex assignment does not always depend on karyotype.

T/F

Answer 15

T