Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents
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...
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2019-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2019/2985347 |
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| author | Prisca Amolo Paul Laigong Anjumanara Omar Stenvert Drop |
| author_facet | Prisca Amolo Paul Laigong Anjumanara Omar Stenvert Drop |
| author_sort | Prisca Amolo |
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| description | 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. |
| format | Article |
| id | doaj-art-01469bce150b47668dfe8d3911e86169 |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
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| series | International Journal of Endocrinology |
| spelling | doaj-art-01469bce150b47668dfe8d3911e861692025-08-20T03:55:27ZengWileyInternational Journal of Endocrinology1687-83371687-83452019-01-01201910.1155/2019/29853472985347Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and AdolescentsPrisca Amolo0Paul Laigong1Anjumanara Omar2Stenvert Drop3Paediatric Endocrinology Training Centre for Africa, Nairobi, KenyaDepartment of Paediatrics and Child Health, University of Nairobi, Nairobi, KenyaDepartment of Paediatrics and Child Health, University of Nairobi, Nairobi, KenyaDepartment of Paediatrics, Division of Paediatric Endocrinology, Erasmus MC-Sophia, Rotterdam, NetherlandsObjective. 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.http://dx.doi.org/10.1155/2019/2985347 |
| spellingShingle | Prisca Amolo Paul Laigong Anjumanara Omar Stenvert Drop Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents International Journal of Endocrinology |
| title | Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents |
| title_full | Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents |
| title_fullStr | Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents |
| title_full_unstemmed | Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents |
| title_short | Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents |
| title_sort | etiology and clinical presentation of disorders of sex development in kenyan children and adolescents |
| url | http://dx.doi.org/10.1155/2019/2985347 |
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