Disorders of sexual differentiation: II. Diagnosis and treatment

El‐Sherbiny, Mohamed

doi:10.1016/j.aju.2012.11.008

Cited by 9 publications

(4 citation statements)

References 29 publications

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“…Unlike CAIS, psychological distress is more often seen in PAIS patients, irrespective of the choice of gender assignment. Almost 25% of individuals affected by PAIS suffer from identity crisis or dissatisfaction with the decided sex and, sometimes, a gender reassignment may be needed [14, 15]. Psychological support is mandatory.…”

Section: Discussionmentioning

confidence: 99%

Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges

Pritsini

Kanakis

Kyrgios

et al. 2017

Case Reports in Endocrinology

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Androgen Insensitivity Syndrome (AIS) and its heterogeneous phenotypes comprise the pieces of a challenging clinical problem. The lack of standardized guidelines results in controversies regarding the proper diagnostic and therapeutic approach, including the time and type of intervention. Due to its variable phenotype, AIS is not diagnosed at the proper age that would allow optimal psychological and medical support to the patient. Therapeutic approaches are not established, mainly due to the rarity of the disease. In addition, various social and ethical consequences may emerge. The aim of this double case report is to outline the difficulties that may rise during diagnostic, therapeutic, and psychological approach of AIS, especially concerning the handling of the relatives' reaction.

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Section: Discussionmentioning

confidence: 99%

Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges

Pritsini

Kanakis

Kyrgios

et al. 2017

Case Reports in Endocrinology

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“…All patients with persistent urogenital sinus had a contrast genitogram performed using Omnipaque ® under fluoroscopy guidance, the same technique used in our centre in a previous study [14]. We used the measurements that were described and illustrated in other studies [14][15][16]. Patients were generally anesthetised either in the same setting of surgery or preoperatively in a different setting.…”

Section: Methodsmentioning

confidence: 99%

Preoperative evaluation of the persistent urogenital sinus in cases with congenital adrenal hyperplasia

Aboalazayem,

Fares,

Ahmed

et al. 2024

Egypt Pediatric Association Gaz

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Background Congenital adrenal hyperplasia (CAH) is a common cause of urogenital sinus (UGS) anomalies. Delineating the abnormal anatomy of the UGS is crucial prior to the operative repair. Genitography and cystourethroscopy are commonly used by most surgeons to plan for reconstruction. We aim at this study to evaluate the role of these modalities and to compare their accuracy in delineating the abnormal anatomy. Methods We did a prospective study of 30 female paediatric patients with persistent UGS secondary to CAH. All cases were evaluated with genitography and cystourethroscopy. We compared the accuracy of each modality in delineating the confluence. The confluence depth, the urethral length proximal to the confluence, the vaginal dimensions, and the depth of the bladder neck were measured in the genitograms. Results Cystourethroscopy showed the abnormal anatomy in all 30 cases (100%). The genitogram showed the site of confluence in 24 cases out of 30 cases (80%). According to the site of the vaginal opening in relation to the external urethral sphincter in the genitogram, we had 2 groups: the low confluence group (N = 14) and the high confluence group (N = 16). The mean confluence depth in the low group was 9.8 mm vs. 20.5 mm in the high group (p-value < 0.001). To find a cutoff point to differentiate low from high groups, we used the values that resulted from dividing the length of the urethra proximal to the confluence over the depth of the bladder neck. By using the ROC curve, the cutoff point was 0.63 mm (< 0.63 mm high, > / = 0.63 mm low) (p-value < .001). Conclusion We recommend using both cystourethroscopy and genitography for preoperative evaluation. Cystourethroscopy is superior in identifying the abnormal anatomy, but it lacks precision in taking measurements. Genitography can avoid this drawback and can precisely measure the confluence depth, vaginal dimensions, and length of the proximal urethra. We suggest using this formula (length of the urethra proximal to the confluence/depth of bladder neck) to classify persistent UGS as low (> / = 0.63 mm) and high (< 0.63 mm).

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“…14 This test usually requires 2 to 3 days of waiting. 15 Genetic tests such as FISH and special molecular test for gene mutation screening (AR, SRY, SF1, WT1, CYP21, SOX9, DAX-1, 17β hydroxysteroid dehydrogenase, 5α-reductase-2) could be done if there is a clinical suspection. 13,16 If sexual chromosome DSD identified, then it is not needed to do further genetical analysis.…”

Section: Diagnosismentioning

confidence: 99%

Disorder of Sex Development, Mosaic Genetic Disorder 45x, 46xy: A Case Report

et al. 2021

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Background. Disorder of sex development (DSD) is a congenital disorder associated with interference in chromosomes, gonads, or sexes anatomically. Individual affected with DSD can be recognized since birth due to external genital ambiguity. Sexual chromosome DSD occurred because sexual chromosome numeric or structural disorder. Mosaic karyotype 45X/46XY is among the rare sexual chromosome DSD with incidence less than 1:15,000 live births. DSD individuals are susceptible to stigmatization. This can cause stress, negative emotion, and social isolation. Therefore, DSD individual management should be done as optimal as possible. Case Presentation: Twelve years old girl complaining a bump arose from anterior side of her genital resembles male genital since 4 years prior to admission without micturition and defecation complains. Patient has not experienced menarche. On external genital examination, we found the normal female external genital such as mons pubis, pubic hair, labia majora, labia minora, hymen, perineum, but without clitoris which in this case it is replaced by a glans of penis, arising from anterior commissure of labia majora area, with an urethral estuary. Before the management is done, patient underwent multidiscipline consultations and further examinations. Subsequently, it was approved that the joint conference formation consisting obstetric and gynecology, urologist, and pediatric endocrinologist to determine the optimal management for the patient. Conclusion: In this case, diagnosis was made with history taking, clinical examination, and supporting investigation such as ultrasound imaging and could be followed by biochemistry test, voiding cystourethrography or genitogram to determine next management. Counseling should be done in detail towards the family to know what action is best for the patient. Multidiscipline team was required to get the optimum result either in medical, ethical, or religious point of view. Surgery in this case was considered followed by long term therapy afterwards.

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Disorders of sexual differentiation: II. Diagnosis and treatment

Cited by 9 publications

References 29 publications

Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges

Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges

Preoperative evaluation of the persistent urogenital sinus in cases with congenital adrenal hyperplasia

Disorder of Sex Development, Mosaic Genetic Disorder 45x, 46xy: A Case Report

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