testicular feminising syndrome
TRANSCRIPT
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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.
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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.
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No breast development
B/L inguinal swelling
Hypertropic Clitoris(Phallus)
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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
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Laproscopy ImageLaproscopy Image
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Possible diagnosis:-Possible diagnosis:-Testicular Feminizing Syndrome (Incomplete type) as she has
•masculine type low pitched voice
•no breast development
•hypertropic clitoris(phallus)
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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
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Rt. Testis
Gross cut section
Vas deferens
Vas deferens
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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.
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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
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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.
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People with Androgen People with Androgen Sensitivity Syndrome(AIS)Sensitivity Syndrome(AIS)
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