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.
INTRODUCTION: Turner syndrome is a frequent chromosome disorder characterized by short stature, gonadal dysgenesis and multisystem diseases associated with high morbidity and reduced life expectancyCASE: We reviewed an 18 month old patient who presented to the genetics unit at Rwanda Military Hospital (RMH), a tertiary healthcare facility, with a chief complaint of poor weight gain. She was born with a birth weight of 1.76kg and in the neonatal period, paediatricians had noticed dysmorphic features. At the first consultation at the RMH genetics unit, he weighed 5.2kg and was 64 cm tall. Physical examinations revealed some dysmorphic features, including hypertelorism, absent philtrum, short and webbed neck and large low set ears. Cytogenetic analysis showed the chromosomal formula of 45, X0. CONCLUSION: ThepatientwasdiagnosedwithTurnersyndromebasedonthecytogeneticanalysis and managed with physiotherapy of stimulation and re-education that led to improvements.
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