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Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Laino L, Majore S, Preziosi N, Grammatico B, De Bernardo C, Scommegna S, Rapone AM, Marrocco G, Bottillo I, Grammatico P - Endocr Connect (2014)

Bottom Line: Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients.In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies.In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular MedicineMedical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, ItalyDepartment of Pediatrics and HematologySan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Padiglione Baccelli, II piano, Pediatria ed Ematologia Pediatrica, Circonvallazione Gianicolense 87, Rome 00152, ItalyPsychology DepartmentSan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Dipartimento di Pscicologia, Circonvallazione Gianicolense 87, Rome 00152, ItalyDepartment of Pediatric SurgerySan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Padiglione Baccelli, II piano, Pediatria ed Ematologia Pediatrica, Circonvallazione Gianicolense 87, Rome 00152, Italy.

No MeSH data available.


Related in: MedlinePlus

Genetic studies and molecular results for 83 patients with 46,XX and disorders of ovarian development, 46,XX and androgen excess, 46,XX other, 46,XY and disorders of testicular development, and 46,XY and disorders in androgen synthesis or action. DSD clinical classes and genetic tests performed are listed on the y-axis. For each molecular analysis, the number of positive (mutated) and negative (not mutated) patients is symbolized by gray bars. SRY+/−, SRY presence/absence test; MLPA Intersex: MLPA SALSA P185-B2 Intersex; RSPO1, CYP21A2, CYP11B1, WNT4, SHOX, SRY, NR5A1, DHH, DMRT1, and SRD5A2, molecular study of the listed genes.
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fig3: Genetic studies and molecular results for 83 patients with 46,XX and disorders of ovarian development, 46,XX and androgen excess, 46,XX other, 46,XY and disorders of testicular development, and 46,XY and disorders in androgen synthesis or action. DSD clinical classes and genetic tests performed are listed on the y-axis. For each molecular analysis, the number of positive (mutated) and negative (not mutated) patients is symbolized by gray bars. SRY+/−, SRY presence/absence test; MLPA Intersex: MLPA SALSA P185-B2 Intersex; RSPO1, CYP21A2, CYP11B1, WNT4, SHOX, SRY, NR5A1, DHH, DMRT1, and SRD5A2, molecular study of the listed genes.

Mentions: In total, we found a genetic alteration in 56 out of 88 (64%) patients (Table 2). Figure 3 summarizes the genetic tests, and the respective results, performed on patients with 46,XX disorders of ovarian development, 46,XX androgen excess, 46,XX other, 46,XY disorders of testicular development, and 46,XY disorders in androgen synthesis/action. The positions of all the identified point mutations along the SRY, AMH, SRD5A2, NR5A1, CYP11B1, AR, RSPO1, and CYP21A2 coding sequences are shown in Fig. 4.


Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Laino L, Majore S, Preziosi N, Grammatico B, De Bernardo C, Scommegna S, Rapone AM, Marrocco G, Bottillo I, Grammatico P - Endocr Connect (2014)

Genetic studies and molecular results for 83 patients with 46,XX and disorders of ovarian development, 46,XX and androgen excess, 46,XX other, 46,XY and disorders of testicular development, and 46,XY and disorders in androgen synthesis or action. DSD clinical classes and genetic tests performed are listed on the y-axis. For each molecular analysis, the number of positive (mutated) and negative (not mutated) patients is symbolized by gray bars. SRY+/−, SRY presence/absence test; MLPA Intersex: MLPA SALSA P185-B2 Intersex; RSPO1, CYP21A2, CYP11B1, WNT4, SHOX, SRY, NR5A1, DHH, DMRT1, and SRD5A2, molecular study of the listed genes.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4195882&req=5

fig3: Genetic studies and molecular results for 83 patients with 46,XX and disorders of ovarian development, 46,XX and androgen excess, 46,XX other, 46,XY and disorders of testicular development, and 46,XY and disorders in androgen synthesis or action. DSD clinical classes and genetic tests performed are listed on the y-axis. For each molecular analysis, the number of positive (mutated) and negative (not mutated) patients is symbolized by gray bars. SRY+/−, SRY presence/absence test; MLPA Intersex: MLPA SALSA P185-B2 Intersex; RSPO1, CYP21A2, CYP11B1, WNT4, SHOX, SRY, NR5A1, DHH, DMRT1, and SRD5A2, molecular study of the listed genes.
Mentions: In total, we found a genetic alteration in 56 out of 88 (64%) patients (Table 2). Figure 3 summarizes the genetic tests, and the respective results, performed on patients with 46,XX disorders of ovarian development, 46,XX androgen excess, 46,XX other, 46,XY disorders of testicular development, and 46,XY disorders in androgen synthesis/action. The positions of all the identified point mutations along the SRY, AMH, SRD5A2, NR5A1, CYP11B1, AR, RSPO1, and CYP21A2 coding sequences are shown in Fig. 4.

Bottom Line: Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients.In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies.In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular MedicineMedical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, ItalyDepartment of Pediatrics and HematologySan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Padiglione Baccelli, II piano, Pediatria ed Ematologia Pediatrica, Circonvallazione Gianicolense 87, Rome 00152, ItalyPsychology DepartmentSan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Dipartimento di Pscicologia, Circonvallazione Gianicolense 87, Rome 00152, ItalyDepartment of Pediatric SurgerySan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Padiglione Baccelli, II piano, Pediatria ed Ematologia Pediatrica, Circonvallazione Gianicolense 87, Rome 00152, Italy.

No MeSH data available.


Related in: MedlinePlus