ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this retrospective clinical study Ehua AM et al., reports the diagnostic and management characteristics of 13 individuals whose karyotype could be studied out of 33 DSD patients, followed over 17 years by 2 pediatric surgery departments in Abidjan.

Serum testosterone could be measured only in 9 of 13 patients. Four patients were treated medically with topical androgen only. One patient had feminizing genitoplasty, and 2 had masculinizing genital surgeries. Six of the 13 patients were lost to follow-up. The average age of patients at the time of consultation was 7.95 years (range: 1 day–37 years). There was a karyotype-sex of rearing mismatch in 5 out of 13 patients in this cohort.

The incidence of DSD was reported much lower in majority of African countries. Reasons for lower incidence and later ages of presentation may include lack of registry system, lack of medical care access, and beliefs and taboos of families regarding malformations in general. The authors explain later diagnosis of DSD also due to lack of detailed examination in delivery room, lack of pediatric surgeons and urologists for referral. They report that the main determinant of male sex of rearing is the feeling at least one palpable gonad in the genital swelling. Current diagnostic algorithms including ultrasound or magnetic resonance imaging for the detection of Mullerian duct remnants, or analysis of hormonal levels, especially of the anti-Mullerian hormone, could not be performed in their cohort due to the lack of resources. Unavailability and high costs of hormone treatment and molecular tests, lack of multidisciplinary team and expert centers were the main limitations for etiological diagnosis and the management of DSDs.

In the contemporary world, it is critically important to provide access to comprehensive, expert, and multidisciplinary holistic care throughout the lifespan for individuals with DSD. A quality of life study may precede to determine the current conditions of children and adults with DSD among countries of different socioeconomic backgrounds.

To this end, the development of multicenter collaboration and standardization of hormonal and genetic evaluation, the training of caregivers, and the development of clear clinical management algorithms and protocols to improve care for patients with DSD living in countries with limited sources should be promoted.