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Disorders of sexual differentiation: II. Diagnosis and treatment

View Article: PubMed Central

ABSTRACT

Objectives: To provide a review and summary of recent advances in the diagnosis and management of disorder(s) of sexual differentiation (DSD), an area that has developed over recent years with implications for the management of children with DSD; and to assess the refinements in the surgical techniques used for genital reconstruction.

Methods: Recent publications (in the previous 10 years) were identified using PubMed, as were relevant previous studies, using following keywords; ‘diagnosis and management’, ‘ambiguous genitalia’, ‘intersex’, ‘disorders of sexual differentiation’, ‘genitogram’, ‘endocrine assessment’, ‘gender assignment’, ‘genitoplasty’, and ‘urogenital sinus’. The findings were reviewed.

Results: Arbitrary criteria have been developed to select patients likely to have DSD. Unnecessary tests, especially those that require anaesthesia or are associated with radiation exposure, should be limited to situations where a specific question needs to be answered. Laparoscopy is an important diagnostic tool in selected patients. The routine use of multidisciplinary diagnostic and expert surgical teams has become standard. Full disclosure of different therapeutic approaches and their timing is recommended.

Conclusions: Diagnostic tests should be tailored according to the available information. Parents and/or patients should be made aware of the paucity of well-designed studies, as these conditions are rare. Unnecessary irreversible surgery should be postponed until a multidisciplinary experienced team, with the parents’ and or patients’ approval, can make a well-judged decision.

No MeSH data available.


TUM: Note the confluence between the vagina and the urethra, as indicated by the Fogarty catheter balloon, was brought down to the level of the perineum.
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f0015: TUM: Note the confluence between the vagina and the urethra, as indicated by the Fogarty catheter balloon, was brought down to the level of the perineum.

Mentions: The technique of vaginoplasty depends on the location of the confluence in relation to the bladder neck, which is a more critical factor than the length of the common channel [18]. The ‘cutback’ vaginoplasty is appropriate only for simple cases. The perineal omega-shaped skin-flap vaginoplasty is applicable to a low confluence and as an adjunct to other forms of vaginoplasty [19]. Total UGS mobilisation (TUM) (Fig. 3) is particularly useful in those with a low and intermediate confluence [16,18].


Disorders of sexual differentiation: II. Diagnosis and treatment
TUM: Note the confluence between the vagina and the urethra, as indicated by the Fogarty catheter balloon, was brought down to the level of the perineum.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4442922&req=5

f0015: TUM: Note the confluence between the vagina and the urethra, as indicated by the Fogarty catheter balloon, was brought down to the level of the perineum.
Mentions: The technique of vaginoplasty depends on the location of the confluence in relation to the bladder neck, which is a more critical factor than the length of the common channel [18]. The ‘cutback’ vaginoplasty is appropriate only for simple cases. The perineal omega-shaped skin-flap vaginoplasty is applicable to a low confluence and as an adjunct to other forms of vaginoplasty [19]. Total UGS mobilisation (TUM) (Fig. 3) is particularly useful in those with a low and intermediate confluence [16,18].

View Article: PubMed Central

ABSTRACT

Objectives: To provide a review and summary of recent advances in the diagnosis and management of disorder(s) of sexual differentiation (DSD), an area that has developed over recent years with implications for the management of children with DSD; and to assess the refinements in the surgical techniques used for genital reconstruction.

Methods: Recent publications (in the previous 10 years) were identified using PubMed, as were relevant previous studies, using following keywords; ‘diagnosis and management’, ‘ambiguous genitalia’, ‘intersex’, ‘disorders of sexual differentiation’, ‘genitogram’, ‘endocrine assessment’, ‘gender assignment’, ‘genitoplasty’, and ‘urogenital sinus’. The findings were reviewed.

Results: Arbitrary criteria have been developed to select patients likely to have DSD. Unnecessary tests, especially those that require anaesthesia or are associated with radiation exposure, should be limited to situations where a specific question needs to be answered. Laparoscopy is an important diagnostic tool in selected patients. The routine use of multidisciplinary diagnostic and expert surgical teams has become standard. Full disclosure of different therapeutic approaches and their timing is recommended.

Conclusions: Diagnostic tests should be tailored according to the available information. Parents and/or patients should be made aware of the paucity of well-designed studies, as these conditions are rare. Unnecessary irreversible surgery should be postponed until a multidisciplinary experienced team, with the parents’ and or patients’ approval, can make a well-judged decision.

No MeSH data available.