ESPE Yearbook of Paediatric Endocrinology

Arch Dis Child 2019;104:636–638. DOI: 10.1136/archdischild-2019-316986

• Prospective cohort study of 9255 neonates at a tertiary care center in Ghana to determine the incidence of disorders of sexual development (DSD) using physical examination, ultrasound and 17-hydroxyprogesterone measurements.

• The estimated incidence of a DSD was 28/10,000 live births. Congenital adrenal hyperplasia (CAH) was most common and showed poor survival (3 of 4 identified children died).

Rare endocrine conditions such as DSDs are largely underdiagnosed in settings where the majority of women deliver at home, routine newborn exams are not performed, and health care professionals with expertise in DSDs are not available. As a result, epidemiologic information on DSDs in many low- and middle-income countries is scarce to unavailable, while excess morbidity and premature mortality (such as from CAH) prevail.

This study from Ghana is the first to evaluate the incidence of DSDs in newborns in a sub-Saharan African country. Its relatively large sample size allowed for an informative incidence estimate that suggests DSDs may be relatively frequent in sub-Saharan Africa. Beyond such epidemiologic data, the study teaches several important lessons. First, examination of the newborn genitalia is paramount for the ascertainment of DSDs, and this task can be given to lay health workers if properly trained. Next, a history of consanguinity, also obtainable by lay health workers, should increase the level of alertness for congenital adrenal hyperplasia. Further, when pediatric endocrinologists are available in-country, a clinical examination combined with relatively simple diagnostic tools such as a 17-hydroxyprogesterone, electrolytes, and pelvic ultrasound can provide most patients with a diagnosis (1). Lastly, the study highlights the limitations of care for patients with DSDs in low-resource settings: Lack of access to more sophisticated diagnostic tools such as a karyotype and genetic testing limits diagnostic certainty for a proportion of patients, and lack of essential medicines such as hydrocortisone and fludrocortisone (2) likely underlies the excess mortality in patients with CAH.

As capacity for pediatric endocrinology increases in low- and middle-income countries, more studies such as this one will provide valuable information on global epidemiology and setting-adapted care delivery for patients with DSDs.

References: 1. Odundo GO, Ngwiri T, Otuoma O, et al. The Impact and Successes of a Paediatric Endocrinology Fellowship Program in Africa. Int J Endocrinol 2016;2016:1–6.

2. Rowlands A, Ameyaw E, Rutagarama F, et al. Insights from the WHO and National Lists of Essential Medicines: Focus on Pediatric Diabetes Care in Africa. Horm Res Paediatr 2018;90:82–92.