Clinical and Genetic Studies of Different Types of Disorders of Sex Development among Children and Adolescents
Aya Abdelkhalek Goda Farag Elaidy;
Abstract
Introduction: Disorder of sex development is defined as a congenital condition with atypical chromosomal, gonadal or anatomical sex development. DSDs are not uncommon in Egypt; an incidence of 1/5000 with genital ambiguity per 20.000 new-borns and infants was previously reported. DSDs are classified into 46, XY DSD, 46, XX DSD and Sex chromosome DSD.
Objectives: To determine frequency of different categories of DSD among children and adolescents and to assess clinical, cytogenetic and molecular characteristics of each type.
Patients and Methods: Two hundred and twenty three patients, between 0 to 18 years of age, were referred to Genetic Endocrinology Clinic at NRC over 18 months period with different presenting features suggesting disorders of sex development. All patients were subjected to thorough clinical and genital examination, chromosomal analysis and pelvic sonar. Biochemical testing, FISH analysis and molecular study were done when indicated.
Results: Patients were put into three main karyotype based groups; first group with sex chromosome DSD (109/223) 48.9%; the most frequent was Turner syndrome (TS) (57/109) 52.3% followed by Klinefelter syndrome (KS) (36/109) 33%, second group had 46,XY DSD (76/223) 34.1%; the most frequent were disorders of androgen synthesis, or action (45/76) 59.2% followed by disorders of gonadal development (16/76) 21.1% and the third group had 46,XX DSD (38/223) 17%; the most frequent were disorders of androgen excess (25/38) 65.8% followed by disorder of gonadal development (11/38) 28.9%. Patients varied at age of first presentation with mean age 10.13 ± 7.24 years. Parental consanguinity was identified in 52%. Patients showed wide range of presenting complaints; the most frequent was ambiguous genitalia in 77 patients followed by primary amenorrhea in 52 patients.
Conclusions: This study included a large number of patients with DSD, the most frequent diagnoses were TS, KS, CAH and 5 alpha reductase deficiency. It enlarges the scope of both cytogenetic abnormalities as well as monogenic mutations among DSD patients. Further studies, especially with further application of (WES) whole exome sequencing, are recommended to ensure the best management options for DSD patients
Objectives: To determine frequency of different categories of DSD among children and adolescents and to assess clinical, cytogenetic and molecular characteristics of each type.
Patients and Methods: Two hundred and twenty three patients, between 0 to 18 years of age, were referred to Genetic Endocrinology Clinic at NRC over 18 months period with different presenting features suggesting disorders of sex development. All patients were subjected to thorough clinical and genital examination, chromosomal analysis and pelvic sonar. Biochemical testing, FISH analysis and molecular study were done when indicated.
Results: Patients were put into three main karyotype based groups; first group with sex chromosome DSD (109/223) 48.9%; the most frequent was Turner syndrome (TS) (57/109) 52.3% followed by Klinefelter syndrome (KS) (36/109) 33%, second group had 46,XY DSD (76/223) 34.1%; the most frequent were disorders of androgen synthesis, or action (45/76) 59.2% followed by disorders of gonadal development (16/76) 21.1% and the third group had 46,XX DSD (38/223) 17%; the most frequent were disorders of androgen excess (25/38) 65.8% followed by disorder of gonadal development (11/38) 28.9%. Patients varied at age of first presentation with mean age 10.13 ± 7.24 years. Parental consanguinity was identified in 52%. Patients showed wide range of presenting complaints; the most frequent was ambiguous genitalia in 77 patients followed by primary amenorrhea in 52 patients.
Conclusions: This study included a large number of patients with DSD, the most frequent diagnoses were TS, KS, CAH and 5 alpha reductase deficiency. It enlarges the scope of both cytogenetic abnormalities as well as monogenic mutations among DSD patients. Further studies, especially with further application of (WES) whole exome sequencing, are recommended to ensure the best management options for DSD patients
Other data
| Title | Clinical and Genetic Studies of Different Types of Disorders of Sex Development among Children and Adolescents | Other Titles | دراسات اكلينيكية و وراثية للانواع المختلفة من حالات اختلال التكوين الجنسي بين الأطفال و المراهقين | Authors | Aya Abdelkhalek Goda Farag Elaidy | Issue Date | 2020 |
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