Differences in sex development

2021 ◽  
pp. 1313-1320
Author(s):  
Dan Wood

Disorders of sexual development are a complex group of conditions with anomalies of the internal and external genitalia due to abnormal chromosomal and hormonal influences during development. Diagnosis and management, including timing of intervention, and both long-term cosmetic and functional outcomes are discussed in this chapter.

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.


2019 ◽  
Vol 13 (4) ◽  
pp. 169-178 ◽  
Author(s):  
Mary García-Acero ◽  
Olga Moreno ◽  
Fernando Suárez ◽  
Adriana Rojas

Disorders of sexual development (DSD) are conditions with an atypical chromosomal, gonadal or phenotypic sex, which leads to differences in the development of the urogenital tract and different clinical phenotypes. Some genes have been implicated in the sex development during gonadal and functional differentiation where the maintenance of the somatic sex of the gonad as either male or female is achieved by suppression of the alternate route. The diagnosis of DSD requires a structured approach, involving a multidisciplinary team and different molecular techniques. We discuss the dimorphic genes and the specific pathways involved in gonadal differentiation, as well as new techniques for genetic analysis and their diagnostic value including epigenetic mechanisms, expanding the evidence in the diagnostic approach of individuals with DSD to increase knowledge of the etiology.


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>


1970 ◽  
Vol 11 (1) ◽  
pp. 63-66
Author(s):  
Md Robed Amin ◽  
Amit Das ◽  
Md Murad Hossain ◽  
Md Ferdous Zaman ◽  
Ahmedul Kabir ◽  
...  

Patients with disorders of sexual differentiation possess discordance among sex chromosomes, gonads, sex hormones, and phenotypic sex. The most common of the phenotypic sex disorder is due to defect in enzyme for synthesis of steroids in adrenal cortex. A spectrum of phenotypes is observed in these cases. Here we present a case with features of female reproductive system in his body with male phenotype. As there was no trace of male sexual organs in all investigations but physical habitus was exclusively male with abundance of hair distribution the case was diagnosed as disorder of sex development (DSD) - female pseodoharmaphroditism. Keywords: Sex Differentiation Disorder, Disorders of Sexual Development, Pseudohermaphroditism DOI:10.3329/jom.v11i1.4276 J Medicine 2010: 11: 63-66


Author(s):  
R. J McKinlay Gardner ◽  
David J Amor

Chromosomal sex is, for the most part, congruently XX female and XY male. The XX and XY embryo are built on a fundamentally similar outline plan, and only as development proceeds do certain modifications evolve. If at any point in this sequential process some genetic instruction is faulty, inappropriate, or cannot be acted on, the direction of anatomical sexual development may proceed imperfectly or completely incongruently. This chapter reviews the conditions of ambiguous/incomplete/indeterminate development of the internal and external genitalia, where the basis of this is a chromosome abnormality, usually of the X or the Y chromosome. The key role of the SRY male-determining gene in a number of these conditions is noted. The de novo or familial origin of these disorders is discussed, with particular reference to possible risks of recurrence.


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