scholarly journals Histopathological spectrum of disorders of sexual development: a case series of seven cases

Author(s):  
Saroj Ashok Bolde ◽  
Arva Ali Pirosha ◽  
Sushma N. Ramraje ◽  
Shubhangi V. Agale

Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

2016 ◽  
Vol 2 (2) ◽  
pp. 44
Author(s):  
Sultana MH Faradz

Disorders of sex development (DSD) is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical, while in clinical practice this term means any abnormality of the external genitalia. DSD patients have been managed by a multidisciplinary gender team in our center as collaboration between Dr. Kariadi province referral hospital and Faculty of Medicine Diponegoro University. Diagnosis should be established by specific physical examination hormonal, chromosomal and DNA studies; and imaging for most of the cases depending on indication.Since 2004 the involvement of molecular and cytogenetic analysis so far can diagnosed many of the DSD cases. Most of the genetically proven cases were Congenital Adrenal hyperplasia, Androgen Insensitivity syndrome and sex chromosomal DSD that lead abnormal gonadal development.  Many of them remain undiagnosed, further testing such as advanced DNA study should be carried out in collaboration with other center in overseas.The novel genes were found in some cases that contributed for the management of DSD.  Information for medical professionals, patients, family members and community about the availability and necessity of DSD diagnosis should be delivered to improve DSD management and patient quality of life.


2015 ◽  
Vol 22 (04) ◽  
pp. 401-407
Author(s):  
Naima Rasool

Objectives: To evaluate the etiology, clinical presentations, investigationsand surgical management of patients presenting with atypical genitalia in Pediatric surgerydepartment. Disorders of Sexual development are one of the most complex congenitaldisorders encountered by the treating physicians. In recent years, the diagnostic ability andsurgical techniques of gender reconstructions have improved remarkably. The spectrumincludes chromosomal, genotype and phenotype abnormalities. The birth of a baby withatypical genitalia poses diagnostic and treatment challenges. This article focuses on etiology,clinical presentations, investigations and surgical management of patients presentingwith ambiguous genitalia. Study Design: A descriptive, prospective case series. Setting:Department of Pediatric Surgery, Military Hospital, Rawalpindi, Pakistan. Period: October 2010to June 2014. Methods: All patients with atypical genitalia, who underwent any kind of genitalreconstruction surgery were included in the study. Results: A total of 28 patients were operatedupon during the study period. Age ranged from 11months to 12 years. Patients were dividedinto two groups on the basis of their karyotyping. Seventeen patients had 46 XY and 11 had 46XX. No mosaic pattern was seen. Male genital reconstructive surgery was done in 16 patientswhile 12 underwent female genital reconstructive surgery. Conclusions: Disorders of sexualdevelopment present as a complex spectrum of psychosocial, sexual, endocrine and surgicalimplications, thus management demands a multidisciplinary team approach. Appropriatelytimed surgical intervention after thorough work up and detailed counseling, produce excellentcosmetic and functional results.


2012 ◽  
Vol 11 (2) ◽  
pp. 129
Author(s):  
Bianca Costa Mota ◽  
Caio Rapôso Leão ◽  
Luciana Mattos Barros Oliveira ◽  
Maria Betânia Toralles

<!--[if gte mso 9]><xml> <w:WordDocument> <w:View>Normal</w:View> <w:Zoom>0</w:Zoom> <w:HyphenationZone>21</w:HyphenationZone> <w:PunctuationKerning /> <w:ValidateAgainstSchemas /> <w:SaveIfXMLInvalid>false</w:SaveIfXMLInvalid> <w:IgnoreMixedContent>false</w:IgnoreMixedContent> <w:AlwaysShowPlaceholderText>false</w:AlwaysShowPlaceholderText> <w:Compatibility> <w:BreakWrappedTables /> <w:SnapToGridInCell /> <w:WrapTextWithPunct /> <w:UseAsianBreakRules /> <w:DontGrowAutofit /> </w:Compatibility> <w:BrowserLevel>MicrosoftInternetExplorer4</w:BrowserLevel> </w:WordDocument> </xml><![endif]--><!--[if gte mso 9]><xml> <w:LatentStyles DefLockedState="false" LatentStyleCount="156"> </w:LatentStyles> </xml><![endif]--><!--[if !mso]><object classid="clsid:38481807-CA0E-42D2-BF39-B33AF135CC4D" id=ieooui></object> <style> st1\:*{behavior:url(#ieooui) } </style> <![endif]--><!--[if gte mso 10]> <style> /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Tabela normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:10.0pt; font-family:"Times New Roman"; mso-ansi-language:#0400; mso-fareast-language:#0400; mso-bidi-language:#0400;} </style> <![endif]--> <p class="MsoNormal" style="margin: 0cm 22.7pt 0.0001pt; text-align: justify;"><strong><span style="font-size: 8pt;">Introdução:</span></strong><span style="font-size: 8pt;"> Os Distúrbios do Desenvolvimento Sexual (DDS) resultam de uma interação anormal de fatores genéticos e hormonais implicados no desenvolvimento embrionário da determinação e diferenciação sexual. Os indivíduos com cariótipo 46, XY que apresentaram virilização deficiente da genitália externa são classificados como tendo um quadro sindrômico de Distúrbio do Desenvolvimento Sexual (46, XY DDS), incluindo entre esses a Síndrome da Insensibilidade Androgênica (AIS). Vários genes já foram reconhecidos por sua participação na formação das gônadas e genitálias (interna e externa) entre eles o gene do Receptor de Andrógenos (AR). <strong>Objetivo:</strong> Analisar os aspectos sócio-epidemiológicos e clínicos de indivíduos com diagnóstico sindrômico de 46, XY Distúrbio do Desenvolvimento Sexual (46,XY DDS) matriculados no Ambulatório de Genética (C-HUPES-UFBA). <strong>Metodologia:</strong> 13 pacientes com 46, XY DDS e suspeita diagnóstica de AIS, foram selecionados para se traçar o perfil clínico e epidemiológico. <strong>Resultados:</strong> Entre os pacientes estudados, 07 foram diagnosticados como PAIS e 06 como CAIS, tendo como o sexo de criação, respectivamente, o masculino e o feminino; a média de idade na primeira consulta foi de 06 anos. Cerca de 38% apresentavam história familiar positiva. O motivo de encaminhamento mais frequente foi hipospádia e genitália ambígua. A média do comprimento do falus foi de 2,77 cm. A localização mais comum das gônadas foi na bolsa escrotal. Apenas dois pacientes apresentaram mais de um orifício perineal. Dois pacientes fizeram tratamento medicamentoso e dez foram submetidos à cirurgia corretiva da genitália. <strong>Conclusão:</strong> Na população estudada o diagnóstico foi mais tardio, isso requer ações sócio-educativas nessa região para incentivar o rápido encaminhamento dos pacientes para diagnóstico e tratamento precoce.</span></p> <p class="MsoNormal" style="margin: 0cm 22.7pt 0.0001pt; text-align: justify;"><span style="font-size: 8pt; color: black;" lang="EN-US"> </span></p> <p class="MsoNormal" style="margin: 0cm 22.7pt 0.0001pt; text-align: justify;"><strong><span style="font-size: 8pt; color: black;" lang="EN-US">Abstract</span></strong><strong></strong></p> <p class="MsoNormal" style="margin: 0cm 22.7pt 0.0001pt; text-align: justify;"><strong><span style="font-size: 8pt;" lang="EN-US">Introduction:</span></strong><span style="font-size: 8pt;" lang="EN-US"> Disorders of Sexual Development (DSD) result from an abnormal interaction of genetic and hormonal factors involved in determining embryonic development and sexual differentiation. Individuals with 46, XY karyotype who presented deficient virilization of the external genitalia are classified as having a syndrome of Sexual Development Disorder (46, XY DSD), including those between Androgen Insensitivity Syndrome (AIS). Several genes have been recognized for their participation in the formation of gonads and genitalia (internal and external) including the gene Androgen Receptor (AR). <strong>Objective</strong>: The aim of this study is to analyze the socio-epidemiological and clinical syndromic diagnosis of individuals with 46, XY disorders of sexual development (46, XY DSD) enrolled in the Genetics Clinic (C-HUPES-UFBA). <strong>Methods</strong>: we selected 13 patients with clinical diagnosis of AIS and traced the clinical and epidemiological profile. <strong>Results</strong>: Among the patients studied, 07 were diagnosed as CAIS and 06 as PAIS, and with the sex of rearing, respectively, the male and female and the average age at diagnosis was 06 years. About 38% had a positive family history. The most common reason for referral was hypospadias and ambiguous genitalia. The average length of falus was 2.77 cm. The most common location was the gonads in the scrotum. Only two patients had more than one hole perineal. Two patients received drug treatment and ten underwent corrective surgery of the genitalia. <strong>Conclusion</strong>:<span>  </span>In this study population were diagnosed later, this requires social and educational actions in the region to encourage the rapid referral of patients for early diagnosis and treatment.</span></p>


Author(s):  
Ayhan Abacı ◽  
Gönül Çatlı ◽  
Merih Berberoğlu

AbstractDisorders of sex development (DSD) are a generic definition including any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads. The most important clinical problems in DSD comprise physical and psychological disturbances and the risk of gonadal tumor development. Germ cell tumor risk is lowest (<5%) in patients with defects in androgene action or synthesis (such as complete androgen insensitivity syndrome, 5α-reductase deficiency), whereas the highest risk (15%–60%) is observed in 46,XY gonadal dysgenesis. The presence of Y chromosomal material in the karyotype increases the risk for the development of gonadal tumors. The reported age of tumor development varies based on the etiology of DSD (gonadal dysgenesis, androgen insensitivity syndrome, androgen synthesis defects, mixed gonadal dysgenesis, etc.). In the past, early gonadectomy was recommended for all cases of 46,XY DSD, however, according to current approaches, gonadal tumor risk is predicted based on the molecular diagnosis and the timing of the gonadectomy depends on the result of molecular analysis. Until now, optimal protocol in the management of DSD is still controversial. In addition to that, safe and well-accepted guidelines are needed. There is limited number of prospective studies on timing of a gonadectomy in childhood and adolescence. Therefore, evidence-based data on timing and indications of gonadectomy in patients with DSD are needed. In this review, recent data regarding gonadal malignancy risk in DSD and recommendations on timing of gonadectomy are presented.


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