A importância da análise histológica morfométrica gonadal na identificação da gônada disgenética

Abstract

Arq Bras Endocrinol Metab vol 47 nº 2 Abril 2003 128 RESUMOA disgenesia gonadal parcial (DGP) é um distúrbio da diferenciação sexual caracterizado por testículos disgenéticos bilaterais, derivados dos ductos de Müller e criptorquidismo em pacientes com ambigüidade genital e cariótipo 46,XY. Entretanto, os critérios histológicos diagnósticos de disgenesia gonadal, apesar de existentes, na prática são pouco utilizados. Este artigo apresenta uma detalhada revisão da evolução das modificações da estrutura histológica gonadal durante a vida e os dados histológicos necessários na avaliação de casos com suspeita de disgenesia gonadal. Mostra-se também os achados morfométricos gonadais de 13 crianças com diagnóstico clínico e laboratorial de DGP, porém sem a confirmação histológica numa avaliação inicial. Após estudo morfométrico histológico das gônadas destas crianças, o diagnóstico de DGP foi confirmado em todos os casos. Portanto, devido à variabilidade da análise histológica gonadal, um estudo morfométrico cuidadoso torna-se necessário para o estabelecimento do diagnóstico de DGP. Partial gonadal dysgenesis (PGD) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent Müllerian ducts and cryptorchidism in intersex patients with a 46,XY karyotype. Although the abnormalities observed in dysgenetic testes are well defined, they are not routinely evaluated by the pathologist. This work reviews in detail the gonadal histologic structure evolution during the lifespan and the histologic data necessary to evaluate the cases with gonadal dysgenesis suspected. We also show the morphometric and histologic features of 22 gonads from 13 children with clinical and laboratory diagnosis of PGD, but without histologic confirmation in the first evaluation. These morphometric and histologic findings confirmed the diagnosis of PGD in every patient in the present series. However, gonadal histology was variable and a careful morphometric evaluation may be necessary to establish the diagnosis.

46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis

“…The histological picture of a dysgenetic testis ranges from a gonad with predominance of fibrous tissue and a few tubular structures to only a reduction in tubular size and reduced number of germ cells. As a consequence, the external genitalia of patients with dysgenetic testes ranges from predominantly male to predominantly female, including cases of striking genital ambiguity, and there is usually persistence of müllerian structures (3).…”

Clinical and Cytogenetic Study of Turner Syndrome and Its Variants

“…The incidence of congenital heart disease in Turner syndrome is reported to be highest in 45,X group (10-15%) & lowest in other group (0-8%) comprising long or short arm deletions of X chromosome [11,10,4,6]. [19].…”

Descriptive Study of Gender Dysphoria and Sexual Behavior in a Disorder of Sex Development Group

“…Regarding the patients in the Chromosomal DSD group, 80% (n = 3) did not undergo a surgical procedure. The following urogenital interventions were performed as recorded in the medical record: 46XY DSD Group-Hypospadias Correction (Lee et al, 2016); Vaginoplasty (Hughes, 2015); Cliteroplasty (Hughes, 2015); Hydrocelectomy (Hughes, 2015); Orchidopexy (Scolfaro et al, 2005); Urethral fistula correction (Lee et al, 2006); Meatotomy (Hughes, 2015) and Oophorectomy (Hughes, 2015). In the 46XX DSD Group: Urethroplasty (Hughes, 2015); Panhysterectomy (Hughes, 2015); Hypospadias correction (Hughes, 2015); Correction of penile curvature (Hughes, 2015); Vaginoplasty (Scolfaro et al, 2005); Cliteroplasty (Scolfaro et al, 2005); Urethroplasty (Hughes, 2015); Chromosomal Group: Hypospadias Correction (Lee et al, 2006); Urethroplasty (Lee et al, 2006); Orchiopexy (Lee et al, 2006); Scrotoplasty (Hughes, 2015); Testicular Prosthesis (Hughes, 2015); Meatotomy and Dilation of the Urethra (Hughes, 2015).…”

“…Disorder of Sex Development (DSD) corresponds to the heterogeneous group of congenital conditions in which chromosomal, gonadal, and anatomic sex development are atypical (Scolfaro et al, 2005;Lee et al, 2006;Hughes, 2015). DSDs were categorized into three main subgroups, according to karyotype: XX, XY, and Sex Chromosome for mosaic karyotypes (Romao et al, 2012).…”

“…DSDs were categorized into three main subgroups, according to karyotype: XX, XY, and Sex Chromosome for mosaic karyotypes (Romao et al, 2012). With varied incidence in different populations (Scolfaro et al, 2005;Lee et al, 2006;Romao et al, 2012;Hughes, 2015, 500-5,5,000), it is considered a rare phenomenon (Lee et al, 2016). In general, the diagnosis is made at birth or infancy and interventional actions are necessary in many cases, despite the considerable existing controversy, especially nowadays.…”