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INTERSEX AND IDENTITY DISORDERS
(Transsexualism Diagnosis and Management) 


Semir A. S. Al Samarrai

 

Introduction:

Genital morphology (especially male) among the animal kingdom is characterized by extensive differences that even member of closely species with similar general morphology may have remarkably diverse genetalia. (Figure 1) 

Genital evolution: 

Charles Darwin was first to recognize the selective context, as well as the evolutionary cause of dimorphic sexual differences. Darwin recognized too that sexual selection is not omnipresent. Nowadays, the sexual selection hypothesis gained much attention because of recent accumulation of evidence supporting them Hosken and Stockley found four main sexual selection mechanisms that have been implicated in genital evolution: 

(i) Sperm competition: Sperm competition is the case when the ejaculates of two or more males compete to fertilize an ovum; thus it seems that the male-male competition is the driving force behind sexual selection and subsequently genital divergences, with a less important role of the female choice.
(ii) Sexual conflict: The evolutionary conflict between sexes will occur whenever there is no strict genetic monogamy, and reproduction is costly, it is also exist as a result of the divergent evolutionary interest of males and females. 
(iii) Runaway or Fisherian selection hypothesizes that female allow only certain males, assumed to yield superior offspring to fertilize their eggs.
(iv) Good gene female choice.
As mentioned above sexual conflict implies that certain genes, though expressed in both sexes, may be beneficial only to one sex, leading to a major restriction of the adaptive evolution of each sex. 

Gender identity disorder (GID) or transsexualism is characterized by strong and persistent cross-gender identification and high degree of discomfort fulfilling the gender role of the individual’s biological sex. 

Patients suffering from-GID-are convinced that they are born in the wrong body, leading to clinically significant distress and a persistent desire to change their sex. Prevalence rate to transsexualism varies between cultures. In general, epidemiological studies revealed that biological men (male-to-female transsexuals (MTFTS) seem to be affected more often than biological women (female-to-male transsexuals (FMTTS). 

Substantial progress has been made in surgical gender reassignment techniques, however the etiology of transsexualism remains poorly understood. Biological factors seem to be of considerable relevance. A prevalence of female-to-male transsexualism (FMTMS) of up to 1 in 500 female has been reported. Although transsexuals experience lower quality of life levels then the general population even 15 years after reassignment surgery. It is known to significantly increase quality of life, especially in the domains of general health, social functioning and mental health concepts and thus is a key element in the treatment of transsexualism that includes four steps: 

(i) The diagnostic process focusing on the exclusion of psychiatric diseases.
(ii) The “real life test” testing the firm cross-gender identity under “normal” circumstances.
(iii) Hormonal therapy.
(iv) Sex reassignment surgery. 

Diagnosis: 

There are two different transexualism. The primary transexualism is characterized by anatomic persistent cross-gender-identification since childhood, while the secondary only characterized by persistent cross-gender-identification in the adulthood. 

By the primary transexualism, which is characterized by anatomic cross gender by birth, there are four major disorders that can lead to a phenotype that can cause gender confusion at birth. 

(i) Female pseudohermaphroditism or adrenogenital syndrome.
(ii) Male pseudohermaphroditism.
(iii) True hermaphroditism.
(iv) Mixed gonadal dysgenesis. 

An infant with ambiguous genetalia must be evaluated expeditiously, and gender must be assigned as early as possible to avoid serious social problems, permanent psychological scarring and lack of self-esteem can result from failure to address this problem early and effectively. 

A good physical examination combined with accurate cytologic examination can give an immediate diagnosis in one of the four preceding categories with 90% accuracy. 

Physical Examination: 

The examiner should look first for symmetry, checking to see whether one gonad is above and the other below the inguinal ring and whether one hemiscrotum is longer than the other. Both gonads will be symmetrically placed, either above or below the inguinal ring if the etiologic influence causing the abnormality is applied equally to both sides. 

One should continue to look for the other signs of ambiguity, such as a “shawl” or prepenile anomaly in which the scrotum is positioned anterior to the penis, the presence of hypospadia and chordee and the degree of labioscrotal rugosity. 

The gonads are palpated carefully to ascertain their shape e.g., round versus elliptical, and to determine whether an epididymis surrounds or is separated from the gonad (testicles). 

For example: A.) Gonadal symmetry occurs in the androgenized female with female pseudohermaphroditism and in the incompletely visualized male with male pseudohermaphroditism. 
B.) Asymmetry occurs when one gonad has differentiated predominantly as a testis and the other as an ovary, as in mixed gonadal dysgenesis or true hermaphroditism. 

Cytology: 

Buccal smear should be obtained to determine the frequency of cells showing chromatin-bodies, indicative of presence of the tangential second x-chromosome. 

With these criteria, one can make a preliminary diagnosis in the first 24 hours of life a high degree of accuracy. 

Figure 2. Symmetry or asymmetry of the gonads plus a buccal smear for chromatin mass can be used to establish an early diagnosis in newborns with ambiguous genetalia. 

For instance, a chromatin-positive individual indicate the existence of as second X in the chromosome and is usually a female pseudohermaphrodite or a true hermaphrodite. 

These with symmetry are usually female pseudohermaphrodites or affected with adrenogenital syndrome. Those with asymmetry are usually true Hermaphrodites. 

A chromatin negative cytologic finding indicates that there is only one X-in the karyotype. Those with gonadal symmetry are more often male psudohermaphrodites. Those with asymmetry usually have gonadal dysgenesis. 

Genetic females recognized in the neonatal period should be raised as females no matter how severely virilized. In genetic males, the gender assignment is based on the size of the penis. The average penile length for a: 

30 weeks gestation male - 2.5 ± 0.4cm
34 weeks gestation male - 3.0 ± 0.4 cm
Term infant - 3.5 ± 0.4 cm 

Further evaluation of the infant before surgery should be done expeditiously: 

1.) Whether there have been any illnesses during pregnancy.
2.) Date and extent of exposure to drug, alcohol, androgen or progestational substances or contraceptive medications.
3.) Detailed pedigree with particular attention to occurrence of genital anomalies in relatives, unexplained death in young infants during the first week or two of life.
4.) Existence of infertile family members. 

1.) Surgical Repairs by Newborn and Infants: 

a.) By the newborn intersex, if infants are reared as female, either because of grossly incomplete male genital development or predominantly female anatomy. The perineum should be reconstructed by clitoral recession, vaginoplasty and labioscrotal reduction. Management is similar whether the diagnosis is mixed gonadal dysgenesis, true hermaphroditism, or male or female pseudohermaphroditism. 

b.) By female pseudohermaphroditism: (genetic female (46XX) with masculinize external genetalia because of-hydroxylase- deficiency). All of these infants should be raised as female. 

Surgery: 

Clitoral-recession-should be done early. Vaginoplasty after the second year of age.

c.) By male pseudohermaphroditism (genetic male (46XY) but has deficient masculinization of the external genitalia because of heritable single-gene defect and insufficient testosterone production. 

Surgery: 

If penis is very small suggestion has to be made to reassigned them to female 

d.) True hermaphroditism (genetic 46XX Karyotype) with H-Y antigen, testes are differentiated and ovary too. 

Surgery: 

Both testes and the ovary may be combined in (ovotestes). 

Infants with small-penis should raised as females, if the penis is adequate for male gender assignment, ovarian and mullerian structures can be normal, followed by hypospadia repair and testicular prosthesis can be inserted at a later time. 

e.) Mixed gonadal dysgenesis (genetic-Moscisism 45X/46XY) with abnormal dysgenetic gonads and retained mullerian structures, deficient masculinization of the external genetalia, these gonads are prone to neoplastic transformation, more common infants raised as female. 

Surgery: 

Removal of gonads, vaginoplasty and estrogen-progesterone replacement has to be given at adolescence. 

If male is selected, the testis must be followed carefully for tumor development, hypospadia repair, gonadotectomy after the second decade with insertion of testicular prosthesis and androgen replacement are indicated. 

2.) Surgical Repairs by Adult: 

The management prior to Surgery, Diagnosis and the Indication for Somatic Treatment were thoroughly made by psychiatrists supported by psychotherapist according to the standards of care of the World Professional Association for Transgender Health. 

Prior to sex reassignment surgery all patients successfully passed the so called “Real-Life Experience Phase” as mandatory prerequisite. The indication for sex reassignment surgery was made by a psychiatrist. 

Parallel to the Real-Life Experience Phase Cross-Sex Hormonal Therapy has to be administered to induce secondary sex characteristics of the opposite sex. 

The standard female to male hormone therapy include intramascular-testosterone undecanoat (1000mg/4ml in every 12 weeks) mostly in combination with oral lynestenole (5-10 mg daily) to maintain amenorrhoea. 

Surgery: 

The surgical repair Female-to-Male transexualism: The final aim of the female-to-male transformation surgery is to create phaloplasty and to perform surgically hysterectomy, salphingo-oopherectomy, bilateral mastectomy and is to complete the hormonal reassignment, which was stated many months before surgery. 

The biological effects of cross-sex hormone treatment by male-to- female transsexuals have mostly been evaluated for cross-sex reassignment, addressed at the effect of female sex hormones. The oral application of estradiol by MFTS induced the secondary sex characteristics to the opposite sex and in the same time the cerebral effects of these female hormones should be expressed in cognitive domains of these patients. 

Because the burden of this disease is very significant for transsexual men often leading these to stigmatization, impairments of daily functioning, professional and personal failures and major depression so that it is indicated to give this patients prior to surgery the estrogen-oral therapy to help them to destigmatize these MFTS. 

Surgery: 

The final aim of the male-to-female transformation surgery of these patients is to create vagina and to perform surgically the Penectomy and bilateral orchidectomy and to complete the hormone reassignment, which was started many months before surgery. 

Summary: 

By the adult’s transexualism, both the circumstances that support gender assignment and the factors that affect their choice and the timing of operation in this complex group of transsexual’s patients has to be considered. It is important to consider the preoperative treatments, the surgical-technical aspect as well as the pre-surgery hormonal and psychological effect, these are important to successful anatomic functional and psychological outcomes for these patients. 

Correspondence

Prof. Dr. SAMIR AHMED SALIM AL SAMARRAI, Professor Doctor of Medicine - Urosurgery, Andrology, and Male Infertility; Dubai Healthcare City, Dubai, United Arab Emirates. Mailing Address: Dubai Healthcare City, Bldg.No.64, Al Razi Bldg., Block D, 2nd Floor, Dubai, United Arab Emirates, PO Box 15376 Email: fmcalsam@emirates.net.ae

 

Correspondence:
Prof. Dr. SEMIR AHMED SALIM AL SAMARRAI
Professor Doctor of Medicine-Urosurgery, Andrology, and Male Infertility
Dubai Healthcare City, Dubai, United Arab Emirates.
Mailing Address: Dubai Healthcare City, Bldg. No. 64, Al Razi building, Block D,
2nd floor, Dubai, United Arab Emirates, PO box 13576
Email: fmcalsam@emirates.net.ae