Embryology,Definition and Classification of Intersex & Ambiguous Genitalia

By: Ainul Amira Shuhaimi 41

Epidydidimis

Vas deferens
Degenerating Mullerian Duct

Seminal Vesicle

Ovaries

Fallopian Tubes

Uterus
Upper Part of Vagina

Genital Tubercle Genital Fold Genital Groove Labioscrotal Swelling

Glans Penis Penile Rafe Urethra Scrotal Sac

Genital Tubercle Genital Fold Genital Groove Labioscrotal Swelling

Clitoris Labia Minor

Vaginal and Urethral Opening Labia Major

Intersexuality and ambiguous genitalia

Intersex is a group of conditions where there is a discrepancy between the external genitals and the internal genitals (the testes and ovaries). Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl. Disorder of sexual development(DSD)

Sex chromosome DSD

46,XY DSD

46,XX DSD

TURNER SYNDROME
FAIQ AQLI BIN RAZALI (46)

Introduction
Gonadal Dysgenesis

Sex chromosomal disorder.

Absence of one set of genes from the short arm of one X chromosome (46,XX) or; Absence of one X chromosome (monosomy X = 45,X).

Clinical Picture

Short stature Low-set ears Webbed neck Cubitus valgus Atrophic breasts Low hairline Increased weight

Clinical Picture
Other manifestation:

Coarctation of the aorta Horseshoe kidney Lymphoedema Amenorrhea Reproductive sterility Rudimentary ovaries gonadal streak

Investigation
Prenatal: Amniocentesis/ Chorionic villous sampling Ultrasound

Postnatal: Karyotyping Laparoscopy (streak ovaries)

Treatment

Growth hormone - will increase growth and probably final adult height. Estrogen replacement therapy - to promote development of secondary sexual characteristics.

Klinefelter's Syndrome
AFIF BIN MOHD AZMI 40

 Genetic disorder that only affects male Extra X chromosome due to non disjunction Affects testis development > small and abnormal function NOT INHERITED

1 of every 500 males born with extra X chromosome!!

-Weak muscle, strength -Slow development -Small / undescended testis Quiet Undemanding Less active

-Learn to talk late -Trouble using language to express -Reading problem -Trouble processing what they hear

-Quiet -Shy -Trouble fitting in

-Similar to normal men -Usually taller -Higher risk for certain health problems (autoimmune disorder, breast cancer)

Man with gynecomastia Socially awkward

Couple cannot get kids Chorionic venous sampling

Parents brought their kid

Male infertility

When genetic diseases run in family

Slow, weak babies

-NO CURE, NO PROBLEM : ITS NOT A LIFE THREATENING CONDITION -NO DRUGS OR INTERVENTION CAN CHANGE ONES CHROMOSOME -BUT WE CAN TREAT THE SYMPTOMS

Therapy for speech, strength, low self confidence, etc..

-A way to make feminized man more masculine -Raise testosterone level to make bigger muscles, deeper voice, more facial and boy hair

TRUE HERMAPHRODITE
Fatin Hamiza Binti Mohd Nasir 07-6-47

Definition
Ovarian and testicular tissue in the same individual
Either bilateral or unilateral Ovatestes or separate testis and ovary With or without abnormal genitalia

Proposed Mechanisms
Mosaicism Chimerism Translocation of Y chromosomal material to an autosome or the X chromosome

Clinical Presentation
Quite variable, which depends on the influence of the Y chromosome material.

Diagnosis
Suggestive : Karyotyping Ductal structures present

Confirmatory : Presence of ovarian and testicular tissue by biopsy

Surgical Management
Determined by sex of rearing
Male Removal of ovarian tissue and Mullerian remnants Penile reconstruction Gonadectomy Testicular prosthesis placement Hormonal replacement therapy Female Removal of all testicular tissues Feminizing genitoplasty

Prognostic factors
Assign gender as soon as possible Dysplastic gonads

No other developmental anomalies Better chance for normal psychological, sexual and reproductive life

At risk for developing germ cell malignancy.

Male Pseudohermaphrodihitism
By : Aizat Bin Ruslin No : 42

Male Pseudohermaphrodihitism
Due to mainly :
Failure to utilize testosterone Androgen Receptor Deficiency (complete / incomplete) 5-alpha reductase deficiency Failure to produce testosterone Defect testicular steroidogenesis Resistant to gonadotropin Congenital lipoid adrenal hyperplasia Defective synthesis or secretion

Androgen insensitivity
Complete type Usually diagnosed

Incomplete type Ambiguous genitalia Normal testosterone, LH and testosterone/DHT ratio All intermediate type of androgen

amenorrhea, absence of pubic hair or hormonal profile.

2% of males with an

inguinal hernia have Complete androgen sensitivity.

Gonadectomy and

5-alpha reductase deficiency

Leads to decrease in Dihydrotestosterone. Inadequate masculinization of ex. genitalia :
Testes in labia Urogenital sinus (urethra and blind vagina) Small or absent prostate glands

Puberty leads to increase in testosterone, leading

to testicular descent, scrotal darkening, phallus enlargement, muscular deep voice.

Surgical intervention in Male Pseudohermaphroditism

Removal of the Gonads
Laparoscopic Open

Repair of external genitalia

Ambiguous genitalia Hypospadis Testicular descent

Feminizing operation for female social sex patient

FEMALE PSEUDOHEMAPRODITE
By: Ainulfadila Abu Hassan Shaari 44

CAUSES

Excess fetal androgens

CONGENITAL ADRENAL HYPERPLASIA 21 -hydroxylase deficiency 11-hydroxylase deficiency 3-hydroxysteroid dehydrogenase deficiency

Excess maternal androgens

Maternal androgen secreting tumours (ovary, adrenal) Maternal ingestion of androgenic drugs

CONGENITAL ADRENAL HYPERPLASIA

Cholestrol

Pregnenolone

Progesterone

17-OH Progestrone

Cortisol

Androgen

Clinical Manifestations
Vulva

Clitoris Urethral

Treatment
a) Medical Cortisol or a synthetic glucocorticoid, such as prednisone or dexamethasone b) Surgical Girls may need surgery to correct labial fusion and to reduce the size of the clitoris.

Mineralocorticoid if necessary.
Glucocorticoids inhibit adrenocorticotropin secretion, resulting in decreased production of adrenal androgens.

INTERSEX AND AMBIGOUS GENITALIA: SEVERE HYPOSPADIAS & VAGINAL ATRESIA

Presented by: Ainul Farahin Kamalruzzaman

(07-6-43)

SEVERE HYPOSPADIAS
Genetic
Monozygotic twins

Endocrinal
Androgen DHT IVF (progeterone)

ETIOLOGY

Environmental
- Environmental substances with significant estrogenic activity

MANAGEMENT
(a) Diagnosis: History, clinical examination and prenatal diagnosis by 2DUS and 3DUS.

(b) Treatment:

VAGINAL ATRESIA