Abstract
Objective The purpose of this study was to describe baseline data on etiological, clinical, laboratory, and management strategies in Kenyan children and adolescents with Disorders of Sex Development (DSD). Methods This retrospective study included patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude's Children's (GCH) Hospitals. After conducting a search in the data registry, a structured data collection sheet was used for collection of demographic and clinical data. Data analysis involved description of the frequency of occurrence of various variables, such as etiologic diagnoses and patient characteristics. Results Data from the records of 71 children and adolescents were reviewed at KNH (n = 57, 80.3%) and GCH (n = 14, 19.7%). The mean age at the time of diagnosis was 2.7 years with a median of 3 months. Thirty-nine (54.9%) children had karyotype testing done. The median age (IQR) of children with reported karyotypes and those without was 3.3 years (1.3–8.9) and 8.3 years (3.6–12.1), respectively (p=0.021). Based on karyotype analysis, 19 (48.7%) of karyotyped children had 46,XY DSD and 18 (46.2%) had 46,XX DSD. There were two (5.1%) children with sex chromosome DSD. Among the 71 patients, the most common presumed causes of DSD were ovotesticular DSD (14.1%) and CAH (11.3%). Majority (95.7%) of the patients presented with symptoms of DSD at birth. The most common presenting symptom was ambiguous genitalia, which was present in 66 (93.0%) patients either in isolation or in association with other symptoms. An ambiguous genitalia was initially observed by the patient's mother in 51.6% of 62 cases despite the high rate (84.7%) of delivery in hospital. Seventeen (23.9%) of the cases had a gender reassignment at final diagnosis. A psychologist/psychiatrist or counselor was involved in the management of 23.9% of the patients. Conclusion The commonest presumed cause of DSD was ovotesticular DSD in contrast to western studies, which found CAH to be more common. Investigation of DSD cases is expensive and needs to be supported. We would have liked to do molecular genetic analysis outside the country but financial challenges made it impossible. A network for detailed diagnostics in resource-limited countries would be highly desirable. There is a need to train health care workers and medical students for early diagnosis. Psychological evaluation should be carried out for all patients at diagnosis and support given for families.
Highlights
Disorders of Sex Development (DSD) are congenital conditions with atypical development of chromosomal, gonadal, or anatomical sex [1]. e classification of ambiguous genitalia in patients is difficult because similar phenotypes may have several etiologies [2,3,4,5,6]
We retrospectively evaluated in January and February 2016 the records of 71 consecutive patients on follow-up during the 8-year period between January 2008 and December 2015 at the Departments of Paediatrics and Surgery at Kenyatta National Hospital (KNH) and Gertude’s Children’s Hospital (GCH) in Nairobi, Kenya
Majority (95.7%) of the patients presented with symptoms of DSD at birth. e most common presenting symptom was ambiguous genitalia, which was present in 66 (93.0%) patients either in isolation or in association with other symptoms
Summary
Disorders of Sex Development (DSD) are congenital conditions with atypical development of chromosomal, gonadal, or anatomical sex [1]. e classification of ambiguous genitalia in patients is difficult because similar phenotypes may have several etiologies [2,3,4,5,6]. Disorders of Sex Development (DSD) are congenital conditions with atypical development of chromosomal, gonadal, or anatomical sex [1]. E classification of ambiguous genitalia in patients is difficult because similar phenotypes may have several etiologies [2,3,4,5,6]. In 2006, Lawson Wilkins Pediatric Endocrine Society (LWPES) and European Society for Paediatric Endocrinology (ESPE) proposed a classification system for causes of intersex disorders on the basis of karyotype analysis [4]. Congenital adrenal hyperplasia (CAH) and mixed gonadal dysgenesis (MGD) are the most common causes of International Journal of Endocrinology ambiguous genitalia, constituting approximately over 50% of all cases of genital ambiguity in the newborn period [9]. In Kenya, there are currently no data on the frequency of etiological diagnoses and clinical presentation of DSD in Kenyan children and adolescents. Awareness among health care workers is thought to be poor resulting in delayed diagnosis and high morbidity and mortality
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have