Diagnosing and Managing Androgen Insensitivity Syndrome

Introduction: Androgen insensitivity syndrome is a rare congenital abnormality of genital organs revealing a female phenotype in a person with XY chromosomes. The aim of our work is to describe the clinical aspects, to determine the chromosomal sex and to report our therapeutic management. Observation: A 28-year-old woman with female phenotype, feminine voice, normal breast development, normal underarms and pubic hair, absence of menstruation, fusion of small and large vaginal lips leaving a small pertuis to serve as urethral meatus. On the dorsal surface of the large, left lip was a mass the size of a date. Hormonal balance was normal. A feminizing genitoplasty was performed as well as excision of the mass. Histological analysis of the mass concluded that it was a feminizing testicular. Conclusion: Androgen insensitivity syndrome is a rare abnormality of the genitals. Multidisciplinary management is essential both for the designation of the breeding sex and feminizing genitoplasty.


Introduction
Androgen insensitivity syndrome, otherwise known as Morris syndrome or testicular feminization syndrome is a very rare disease characterized by an intersexual state in which there is presence of a female phenotype in an individual with testicular, possessing an XY karyotype [1] [2] [3].The birth of a child with an external genital organ abnormality is a social emergency that can present significant physical and psychological repercussions.The choice of the sex depends on the anatomy of the lesion, age of diagnosis, risk of gonadal degeneration and the maturity (especially pubertal) for the child.When all the anatomical and functional investigations have resulted in the choice of the definitive sex, a civil declaration can be made, and treatment put in place [4].
In 1940, Jost's work demonstrated that the removal of sexually undifferentiated gonads of a mammalian fetus leads to development of internal and external female organs.
The first publication on Androgen Insensitivity Syndrome (AIS) was done in 1953 by J. MORRIS [5], an American gynecologist.The case concerned a woman who had never seen her menses.Morphologically, she portrayed normal breasts development, external genitalia, pubic hair and a rare underarm, a short vagina and testicles.
Treatment must take into account the assigning sex which is usually female.It consists of: removal of the testicles (usually ectopic), effectuating a feminizing genitoplasty and psychological management of the patient and parents.
The aim of our work is to describe the diagnostic and therapeutic approach.

Patients and Method
OBSERVATION: DR, 28 years, 1.60 m, 57 Kg, repudiated twice successively by 2 spouses because of impossibility of penetration during coitus.She is taken to the urology consultation unit by a colleague (relative of the patient) who found her psychologically depressed.The interview visited the notion of primary amenorrhoea and allowed an appreciation of her voice (female type).Physical examination revealed a female phenotype, normal breast development, normal underarms and pubic hair, complete fusion of large and small lips (as if the perineum was abnormally elongated) leaving just a punctiform orifice serving as the urethral meatus.The catheterization of this meatus allowed an evacuation of urine from the bladder.Patient's informed consent was obtained for the chirurgical management and the using of photographies only for scientific aim.A mass, the size of a date and the form of an arch was visible and palpable at the level of the large left lip [Figure 1].It was mobile under the skin.Endorectal ultrasound (vaginal ultrasound was impossible because of the absence of the vagina) the absence of a uterus and ovaries were noted.The pelvic tomodensitometry had also confirmed the absence of a uterus and ovaries.Hormonal balance reported an FSH rate of 0.80 mUI/ml (normal: 2 -10), LH = 3.95 mUI/ml (normal: 2 -9), Prolactin = 17.70 ng/ml (normal: 3 -15) and testosterone = 1.74 ng/ml (normal: 3 -8).Pre-operative assessment was also requested, especially: NFS, blood glucose, serum creatinine and blood grouping, the results were normal.
After obtaining an informed consent from the patient and the parents, a feminizing genitoplasty was decided and executed.The surgery was performed

Clinical and therapeutic aspects
The safety and possibility of endorectal penetration (due to the absence of the vagina) of an ultrasound, seems to be the best imaging examination in search for Muilerian structures.Absence of the uterus, confirmed by endorectal ultrasound explained the absence of menstruation in the patient, despite her 28 years of life.
Feminizing genitoplasty performed in the patient seemed to be the best option in accordance with her phenotype and her breeding sex, for she had lived for 28 years as a woman as evidenced by her "two marriages" divorces.Moreover, enormous difficulties are encountered in carrying out a masculinizing genitoplasty with often random results as regards aesthetic and functional aspects of the penis.Gonadectomy, practiced in our patient presented a four-fold objective.Aesthetics, due to the presence of the gonadal mass, is portrayed as disgraceful and the patient only wished that her spouse does not realize it.Diagnostic, where it was necessary to know the histological nature of the mass, whose origin was difficult to guess.
Therapeutic, in order to avoid running the risk of cancer of an ectopic testicle.
Cryptorchidism is seen as a well-known risk factor for testicular cancer.Indeed, the percentage of malignant transformation of dysgenetic gonads, in all categories, varies according to studies from 15% to 30% [7] [8] [9].Moreover, the incidence of testicular cancer increased in France, where it was less than 1500 in 1990, reaching 2300 (InVS 2011 projection).The mortality linked to it, on the other hand, decreased from nearly 200 in 1990 to 86 in 2011 (InVS data).Psychological, because finally the woman felt she was female, with the possibility of having a spouse, enjoy sexual intercourse, a source of relief was also shared by the parents who lived this drama in pain and silence with their offspring.The Parents felt guilty about the state of malformation present in their offspring.If there is a clear consensus on gonadectomy, it must be recognized that the age at which it is to be practiced is controversial.Before puberty for some, after puberty for others.When gonadectomy is performed before puberty, estrogen replacement therapy is required to ensure normal breast development in accordance with the phenotype,