Testicular Feminising Syndrome

Testicular Testicular Feminizing Feminizing SyndromeSyndrome Dr. Vijay Patil Dr. Vijay Patil

MS, Mch.MS, Mch.

Consultant, Pediatric Consultant, Pediatric SurgeonSurgeon

Ashwini Hospital, SolapurAshwini Hospital, SolapurVijay Clinic ,Solapur.Vijay Clinic ,Solapur.

Case HistoryCase History14yr.,female,Sushmita residing at Gulbarga was brought with :-

Chief Complaints:-

• Change in voice pattern (masculine type)

• Amenorrhoea

• B/L swelling in the groin

Pt. had first came when she was 6yr. with complaint of B/L swelling in the groin (on examination found to be B/L inguinal hernia with palpable gonads).Pt. was advised surgery and Testicular Feminizing Syndrome was suspected

Pt. did not turn for 10-12yr.Now she came with above complaints.

No breast development

B/L inguinal swelling

Hypertropic Clitoris(Phallus)

Investigations:-Investigations:-• CBC:---Normal

• Chest X-ray:---Normal

• USG Abdomen:---It revealed no uterus, no ovaries

• Hormonal Study:-

LH and FSH levels,

Testosterone levels were significantly raised

• Laproscopy:---It was found that there are:-

B/L testes with vas deferens

No uterus,no fallopian tubes and No ovaries

Laproscopy ImageLaproscopy Image

Possible diagnosis:-Possible diagnosis:-Testicular Feminizing Syndrome (Incomplete type) as she has

•masculine type low pitched voice

•no breast development

•hypertropic clitoris(phallus)

ManagementManagement

As the pt. was brought up as female ,she was counseled and advised :-

• B/L gonadectomy with estrogen therapy (transdermal patches preferred)

• surgery for ext.genitilia at later date

• Prevention of osteoporosis

Rt. Testis

Gross cut section

Vas deferens

Vas deferens

DiscussionDiscussionAndrogen insensitivity syndrome (AIS), also referred to as androgen resistance syndrome.

The phenotype is a female despite the normal male karyotyping 46 XY. The etiology of this syndrome is congenital insensitivity to androgens transmitted by means of a maternal X-linked recessive gene responsible for androgen intracellular receptors.

Incidence:-1:20,000-64,000 male births

A person with complete androgen insensitivity syndrome (CAIS) has a female external appearance despite a 46XY karyotype and undescended testes, a condition once called "testicular feminization" a phrase now considered both derogatory and inaccurate.

ClassificationClassification

Defect in Androgen ActionDefect in Androgen Action :- :-•5α-Reductase II mutations •Androgen receptor defects •Complete androgen insensitivity syndrome •Partial androgen insensitivity syndrome

(Reifenstein and other syndromes) •Smith-Lemli-Opitz syndrome •Defect in conversion of 7-dehydrocholesterol to

cholesterol

Testicular feminization syndrome may present as:-

• Complete form (CAIS) :-There is no androgen response, therefore normal external female normal external female

genitiliagenitilia develop and these infants are reared as females. There may be labial or inguinal swellings which contain testis. These patients most often present in late adolescence with primary ammenorrhoea.There is absence of uterus and ovaries on ultrasound scan or laparoscopy.Vagina is short, develops from urogenital sinus only and ends blindly.

• Incomplete / Partial form (PAIS):-It is associated with wide range of genital abnormalities and typically

present at birth with genital ambiguity. Severe hypospadias associated with micropenis, bifid scrotum and bilateral cryptorchidism are common. In some patients, the external genital phenotype may be predominantly female with partial labial fusion and clitromegaly.Ultrasonography or laparoscopy should be done in all such patients to examine internal

genital organs.

People with Androgen People with Androgen Sensitivity Syndrome(AIS)Sensitivity Syndrome(AIS)