Management challenges of disorders of sex development- Case Series
INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD. CASES: We reviewed two patients referred to the Rwanda Military...
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| Format: | Article |
| Language: | English |
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Rwanda Biomedical Centre (RBC)/Rwanda Health Communication Center
2022-09-01
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| Series: | Rwanda Medical Journal |
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| _version_ | 1811254986197172224 |
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| author | B. Tuyishimire H. Irere F. Rutagarama A. Ndatinya O.R. Karangwa A. Gasana C. Nsanzabaganwa L. Mutesa |
| author_facet | B. Tuyishimire H. Irere F. Rutagarama A. Ndatinya O.R. Karangwa A. Gasana C. Nsanzabaganwa L. Mutesa |
| author_sort | B. Tuyishimire |
| collection | DOAJ |
| description | INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD.
CASES: We reviewed two patients referred to the Rwanda Military Hospital genetic unit. The first patient was a 3-year-old toddler who was referred for confusing sex organs. Physical examination showed ambiguous genital organs with hypospadias and micropenis. Pelvic examination showed a swelling solid mass hat leading to a suspicion of ovary or undescended testes or combined ovary and testes (ovotestes). The second patient was a 17 years old teenager who presented with primary amenorrhea and lack of female secondary sexual characteristics at her age. The karyotype test was performed to investigate the genotypic sex of the patients and results revealed the karyotype formula of 46, XX/XY indicating the presence of two cell lines in the patient for the toddler and 46XYinv9 (p11q13) indicating the mismatch between the genotype and phenotype of the patients for the teenager.
CONCLUSION: Patients were diagnosed with Disorder of Sex Development with 46, XX/XY and 46, XY genotypes respectively. A multidisciplinary team of a geneticist, urologist, endocrinologist and a psychologist reviewed the patient for the effective management. |
| first_indexed | 2024-04-12T17:15:57Z |
| format | Article |
| id | doaj.art-70c6c96bd5134c96a98fb0a9e525e805 |
| institution | Directory Open Access Journal |
| issn | 2410-8626 |
| language | English |
| last_indexed | 2024-04-12T17:15:57Z |
| publishDate | 2022-09-01 |
| publisher | Rwanda Biomedical Centre (RBC)/Rwanda Health Communication Center |
| record_format | Article |
| series | Rwanda Medical Journal |
| spelling | doaj.art-70c6c96bd5134c96a98fb0a9e525e8052022-12-22T03:23:38ZengRwanda Biomedical Centre (RBC)/Rwanda Health Communication CenterRwanda Medical Journal2410-86262022-09-01793913https://dx.doi.org/10.4314/rmj.v79i3.9Management challenges of disorders of sex development- Case SeriesB. Tuyishimire0H. Irere1F. Rutagarama2A. Ndatinya3O.R. Karangwa4A. Gasana5C. Nsanzabaganwa6L. Mutesa7Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda; Kigali, Rwanda; Rwanda Military Hospital, Kigali, RwandaCenter for Human Genetics, College of Medicine and Health Sciences, University of Rwanda; Kigali, Rwanda; Rwanda Military Hospital, Kigali, RwandaRwanda Military Hospital, Kigali, RwandaRwanda Military Hospital, Kigali, RwandaRwanda Military Hospital, Kigali, RwandaRwanda Military Hospital, Kigali, RwandaCenter for Human Genetics, College of Medicine and Health Sciences, University of Rwanda; Kigali, RwandaCenter for Human Genetics, College of Medicine and Health Sciences, University of Rwanda; Kigali, RwandaINTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD. CASES: We reviewed two patients referred to the Rwanda Military Hospital genetic unit. The first patient was a 3-year-old toddler who was referred for confusing sex organs. Physical examination showed ambiguous genital organs with hypospadias and micropenis. Pelvic examination showed a swelling solid mass hat leading to a suspicion of ovary or undescended testes or combined ovary and testes (ovotestes). The second patient was a 17 years old teenager who presented with primary amenorrhea and lack of female secondary sexual characteristics at her age. The karyotype test was performed to investigate the genotypic sex of the patients and results revealed the karyotype formula of 46, XX/XY indicating the presence of two cell lines in the patient for the toddler and 46XYinv9 (p11q13) indicating the mismatch between the genotype and phenotype of the patients for the teenager. CONCLUSION: Patients were diagnosed with Disorder of Sex Development with 46, XX/XY and 46, XY genotypes respectively. A multidisciplinary team of a geneticist, urologist, endocrinologist and a psychologist reviewed the patient for the effective management.disorders of sex developmentgenotypephenotypekaryotypechromosomehypospadiaschimerism |
| spellingShingle | B. Tuyishimire H. Irere F. Rutagarama A. Ndatinya O.R. Karangwa A. Gasana C. Nsanzabaganwa L. Mutesa Management challenges of disorders of sex development- Case Series Rwanda Medical Journal disorders of sex development genotype phenotype karyotype chromosome hypospadias chimerism |
| title | Management challenges of disorders of sex development- Case Series |
| title_full | Management challenges of disorders of sex development- Case Series |
| title_fullStr | Management challenges of disorders of sex development- Case Series |
| title_full_unstemmed | Management challenges of disorders of sex development- Case Series |
| title_short | Management challenges of disorders of sex development- Case Series |
| title_sort | management challenges of disorders of sex development case series |
| topic | disorders of sex development genotype phenotype karyotype chromosome hypospadias chimerism |
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