Sex Developmental Disorder (DSD) is a condition resulting from abnormal development of chromosomal, gonadal, or anatomical sex. This may present with a wide clinical spectrum. The incidence of DSD's is 1 in 4500 live births on average.
As a genotype, a child with a female karyotype may present with a completely male external genitalia, or may present with mild cliteromegaly. A genotypic male, on the other hand, may not be sufficiently masculinized, and may appear completely female, or may not show signs other than severe hypospadias.
DSD is one of the most complex topics in pediatric surgery and pediatric urology and requires a multidisciplinary approach. This multidisciplinary team; It should consist of a pediatric surgeon - pediatric urologist, pediatric endocrinologist, child psychiatrist, pediatric geneticist, neonatal, and medical ethicist, if any.
The clinical course of CGBs is variable. Diagnosis may be required immediately after birth in infants born with questionable genitalia. Although the external genital structure is differentiated in other groups of DGBs, the diagnosis may be delayed until adolescence or adulthood in cases where there is anatomical mismatch in the internal reproductive organs.
Suspicious genitalia is a condition that requires urgent diagnosis and treatment, both medically and socially. In salt-wasting types of congenital adrenal hyperplasia (CAH), the patient may die with severe adrenal insufficiency. Hypertension seen in some types of CAD, gonadal tumors that can be seen in gonadal dysgenesis, Wilms Tumor accompanying some DSDs, etc. anomalies may present as life-threatening complications.
As a result of the meetings and evaluations made in recent years, it was decided to use the term sexual development disorder (DSD) instead of the terms bisexual, ambigus genitale, hermaphroditism, and intersex. In addition, Gender Developmental Disorder has been reclassified into 3 main groups.
- Group: 46,XX DSD : Most common Congenital adrenal hyperplasia
- Group: 46,XY DSD
- Group: Sex chromosome DSD 47,XXY Klinefelter syndrome and variants, 45,X Turner Syndrome and variants, 45,X/46,XY Mixed Gonadal Dysgenesis, Chimerism 46,XX / 46,XY
Problems in the diagnosis and treatment methods of this group of patients still continue. There is no clear consensus on the selection, timing and method of sex determination in newborns with DSD. These disorders have various health and social consequences such as hormonal diseases, impaired fertility, gender unhappiness, psychological and sexual difficulties, social stigma, and ovarian/testicular tumors. The importance of the issue is due to the fact that this situation may require urgent medical attention, as well as the social dimension extending to delay in gender selection or giving an inappropriate gender.
Delays and errors in diagnosis and treatment result in death in the neonatal period in some patients, and significant psychological, social and even organic disorders in others.
Congenital Adrenal Hyperplasia
Congenital adrenal (CAH) is the most common cause of suspicious genitalia in the neonatal period. Its incidence is approximately 1/5,000-15,000 worldwide.
It has been shown that the incidence of CAD is high in Arab countries where consanguineous marriages of this disease are common. Turkey is among the countries where consanguineous marriages are common. While the average consanguineous marriage is around 20-25% in Turkey, this rate is close to 50% in some regions. Therefore, it is thought that the incidence of CAD is high in our country. However, there is no study showing the incidence of CAD in our country.
Due to the enzyme disorder in the adrenal gland of the developing female baby in the mother's womb, the testosterone hormone is secreted more than it should. Exposure of the baby girl to high levels of the hormone testosterone does not affect the development of her eggs and uterus. However, the external genitalia may be affected and the clitoris may appear as a pipi. This leads to female sexual development disorder.
The common view of the World Pediatric Endocrinology and European Pediatric Urology Societies is that the operation of this disease is not performed by everyone. Since it is a very specific surgery, it is beneficial to have it performed by certain surgeons who have devoted themselves to this surgery and are experienced in this field.
I am proud to have an important series in the world with nearly 100 CAH surgeries in my pediatric urology career. It is one of the surgeries that I enjoy very much. It is very important to follow the patients closely after the surgery, to diagnose and intervene the complications that may occur immediately.