(DSD, ambiguous genitalia, inter sex disorder)
Dr Lucky Gupta
Intersex Awareness Day takes place on October 26 each year and this article is an effort to raise awareness about this condition, which is the need of an hour.
The term “intersex” describes a range of medical disorders in which an individual’s physical sex characteristics do not fit typical male or female classifications. It has been seen that parents experience extreme stress when their child is born with ambiguous genitaliaand they feel intense guilt and at that time they need emotional support and a clear explanation of the problem. Surprisingly, some patients go undiagnosed till puberty. Ambiguous genitalia can occasionally be linked to life-threatening conditions like salt wasting seen in congenital adrenal hyperplasia that requires emergency treatment.
One in every 4500 newborns is estimated to have DSD. The clinical evaluation is in accordance with the knowledge of the five main types of intersex disorders; the commonest are male pseudohermaphrodite, female pseudohermaphrodite, and true hermaphrodite. In the current scenario, it is evident that with the awareness, clinical knowledge, more sophisticated investigations and highly skilled diagnostic procedures, the diagnosis of the DSDs can be made with ease and with the multidisciplinary approach that involves the medical, surgical and psychosocial features of the condition, the condition can be dealt accordingly.
History, Clinical Evaluation and Investigations
The important questions are: Did the mother use any drugs that might have an impact on the development of the fetal genitalia while she was pregnant? Does the family have a history of consanguineous marriages, ambiguous genitalia, death in the perinatal period or death of a sibling?
Upon a thorough physical examination, the child may exhibit dysmorphic facial features. The other clinical features include genital symmetry, meatel location, hyperpigmentation, size of phallus, bifid or hemiscrotum, gonads, presence or absence of uterus and systemic illness.
The investigations include Chromosomal analysis, radiological investigation in the form of Urethrogram, Ultrasound, MRI and bone age estimation. Hormonal estimation in the form of serum 17- OH progesterone, electrolytes, beta HCG stimulation test, etc. are important.
Sex assignment and Surgical management
Management of intersex problems is a challenging job. Early detection requires community awareness and adequate infrastructure for diagnosis and management. Many parents didn’t know that there was any problem with the child. Some knew that there was a problem but were not sure if it could be corrected and if so where. The other factors that prevented them from seeking help were:
- They were ashamed to mention the condition
- Fear that ‘hijras’ may take the child away.
- Sometimes parents give up treatment after exhausting all the money they had for diagnosis, but the diagnosis is not made.
Good communication should perhaps be given a higher priority than it is at present. In our society, sex assignment is still considered an important step as compared to the Western world and based on the clinical evaluation and investigations as mentioned above, this decision is highly important. The parents and other concerned persons should have a private, in-depth discussion of the matter at hand about both the advantages and drawbacks of each type of sex assignment in terms of surgical options, development of malignancy, fertility, phallic reconstruction, vaginoplasty, psychological development, need for hormonal supplementation if any.
The author has a special interest in managing these children because these children are either mismanaged or misdiagnosed as when they reach puberty, they’ll exhibit unfavourable secondary sexual traits, infertility, or marital issues, infertility, or marital disorders where there is a lot of conflict in their minds. Girls with congenital adrenal hyperplasia have been observed to anticipate being fertile and, thus, the role of raising preferably will be female and depending upon the preferences for surgery, can also undergo surgical treatment in a young age.
The evidence-based data available today is still insufficient to determine a person’s gender. The question of whether surgery should be performed early in childhood or postponed until the patient is capable of giving consent on their own has long been discussed. In the author’s view, it is crucial to take into account the psychological evaluation of patients in conjunction with their parents on denial, anxiety, guilt, worthlessness or acceptance along with their proper counseling should be the first step and respectful care is critical for the management of infants, children, adolescents, and their families to ensure respect, a positive and meaningful quality of life.
(The writer is Assistant Professor, Department of Pediatric Surgery, AIIMS, Vijaypur, Jammu).
