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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.


Clitoroplasty: Note the preservation of the dorsal neurovascular bundle and the sensitive mucosal collar around the glans of the clitoris.
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f0010: Clitoroplasty: Note the preservation of the dorsal neurovascular bundle and the sensitive mucosal collar around the glans of the clitoris.

Mentions: Feminising genitoplasty: The genitalia are reconstructed at 2–6 months old; reconstruction in early infancy is relatively easier due to the advantageous effects of maternal oestrogen on tissue. Moreover, the potential complications related to the continuity between the urinary tract and peritoneum via the Fallopian tubes are circumvented. However, minor surgical revisions might be needed at the time of puberty [15]. These refined surgical procedures are mainly used for vaginal stenosis, as vaginal dilatation is not advisable before puberty. The efficacy of early (<12 months old) vs. late surgery (in adolescence and adulthood) has not been evaluated in controlled clinical trials. Preoperative preparation should include antibiotics and a ‘steroid-stress’ dose [16]. A rectal enema can be also used. Reconstruction includes three components, i.e. clitoroplasty, labioplasty and vaginoplasty. Postnatal steroid therapy seems to be associated with an improvement in the external appearance of genitalia in patients with less severe clitoromegaly [17]. Thus clitoroplasty may only be used in severe cases (Prader III–V) and be done at the same time as the common UGS repair. Clitoroplasty should respect the innervation and vascularity, to preserve not only the appearance but also the function (Fig. 2).


Disorders of sexual differentiation: II. Diagnosis and treatment
Clitoroplasty: Note the preservation of the dorsal neurovascular bundle and the sensitive mucosal collar around the glans of the clitoris.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

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

f0010: Clitoroplasty: Note the preservation of the dorsal neurovascular bundle and the sensitive mucosal collar around the glans of the clitoris.
Mentions: Feminising genitoplasty: The genitalia are reconstructed at 2–6 months old; reconstruction in early infancy is relatively easier due to the advantageous effects of maternal oestrogen on tissue. Moreover, the potential complications related to the continuity between the urinary tract and peritoneum via the Fallopian tubes are circumvented. However, minor surgical revisions might be needed at the time of puberty [15]. These refined surgical procedures are mainly used for vaginal stenosis, as vaginal dilatation is not advisable before puberty. The efficacy of early (<12 months old) vs. late surgery (in adolescence and adulthood) has not been evaluated in controlled clinical trials. Preoperative preparation should include antibiotics and a ‘steroid-stress’ dose [16]. A rectal enema can be also used. Reconstruction includes three components, i.e. clitoroplasty, labioplasty and vaginoplasty. Postnatal steroid therapy seems to be associated with an improvement in the external appearance of genitalia in patients with less severe clitoromegaly [17]. Thus clitoroplasty may only be used in severe cases (Prader III–V) and be done at the same time as the common UGS repair. Clitoroplasty should respect the innervation and vascularity, to preserve not only the appearance but also the function (Fig. 2).

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&nbsp;years) were identified using PubMed, as were relevant previous studies, using following keywords; &lsquo;diagnosis and management&rsquo;, &lsquo;ambiguous genitalia&rsquo;, &lsquo;intersex&rsquo;, &lsquo;disorders of sexual differentiation&rsquo;, &lsquo;genitogram&rsquo;, &lsquo;endocrine assessment&rsquo;, &lsquo;gender assignment&rsquo;, &lsquo;genitoplasty&rsquo;, and &lsquo;urogenital sinus&rsquo;. 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&rsquo; and or patients&rsquo; approval, can make a well-judged decision.

No MeSH data available.