Testicular feminizing syndrome and “pure” gonadal dysgenesis

Pujol-Amat, P.; Esteban-Altirriba, J.; Vanrell-Diaz, J.; Tejero, A.; Oriol-Bosch, A.; Ribas-Mundo, J.; Prats-Viñas, J.

doi:10.1016/0002-9378(70)90400-x

Cited by 5 publications

(2 citation statements)

References 32 publications

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“…In the latter group only normal testes were found. The risk of deve loping a malignancy in an abdominal testis is very low [8,14,15]. No testicular feminization patient under 14 years of age with a malignant testicular growth has ever been published.…”

Section: Discussionmentioning

confidence: 99%

Testicular Feminization Syndrome in the Neonate

Zijl¹,

Evers²,

Gerver

1990

Gynecol Obstet Invest

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If we see a young, phenotypically female patient with an XY karyotype, it is of great importance to differentiate between the testicular feminization syndrome and gonadal dysgenesis. Patients with testicular feminization will always have normal testes, which are situated either in the ovarian fossa or in the inguinal canal. Patients with gonadal dysgenesis always have streak gonads. The risk of developing a malignancy in an abnormally located testis is very low, certainly before puberty, whereas the risk for dysgenetic gonads to develop a malignancy is high. Testes in patients with testicular feminization have an important endocrine function in puberty, whereas in gonadal dysgenesis patients they do not. For these reasons, in patients with testicular feminization, one should not remove the testes until the completion of puberty, whereas in patients with gonadal dysgenesis removal should be performed immediately upon recognition of the disorder.

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Section: Discussionmentioning

confidence: 99%

Testicular Feminization Syndrome in the Neonate

Zijl¹,

Evers²,

Gerver

1990

Gynecol Obstet Invest

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“…O útero e a vagina são hipoplásicos e a pilosidade é escassa. Além disso, a distribuição de tecido adiposo não obedece ao padrão feminóide (Pujol-Amat et al, 1970;Migeon et al, 2002).…”

Section: Aspectos Médicosunclassified

Implicações psicologicas da (in)fertilidade em mulheres com fenotipo feminino e genotipo discordante

Gonçalves¹,

Luiz²

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Dedico esta tese... À minha filha Ester, que busca compartilhar comigo os princípios de justiça e veracidade com a vida. Aos meus pais e familiares, por terem acompanhado os meus passos ao longo da minha vida, e terem sinalizado o meu jeito teimoso de buscar estudar, pesquisar e não aceitar respostas prontas. Aos colegas pesquisadores que se importam com o bem estar humano e se juntam aos que lutam por ele. A todas as mulheres que buscam superar discriminações e, de modo especial, às mulheres que colaboraram com este trabalho. v Agradecimentos Às minhas orientadoras, iniciando pela Dª. Regina Célia Sarmento, que por curto período me acompanhou; à Profª. Drª. Maria Yolanda Makuch que assumiu a co-orientação e deu sentido aos aspectos psi; à Profª. Drª. Fátima Böttcher-Luiz que desde as primeiras discussões me acompanhou, além de estabelecer uma relação franca e construtiva, inserindo-me no "instigante mundo da genética".

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Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

Ogata

Matsuo

1993

Hum Genet

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Although sex chromosome aberrations are frequently associated with statural changes, the underlying factors have not been clarified. To define the factors leading to the statural changes, we took the following three steps: (1) determination of the mean adult height in nonmosaic Caucasian patients with sex chromosome aberrations reported in the literature (assessment of genetic height potential); (2) assessment of the validity of factors that could influence stature; and (3) correlation of the mean adult height with the effects of specific growth-related factors. The results indicate that the adult height in patients with sex chromosome aberrations may primarily be defined by the dosage effect of pseudoautosomal and Y-specific growth genes, together with the degree of growth disadvantage caused by alteration of the quantity of euchromatic or non-inactivated region.

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Testicular feminizing syndrome and “pure” gonadal dysgenesis

Cited by 5 publications

References 32 publications

Testicular Feminization Syndrome in the Neonate

Testicular Feminization Syndrome in the Neonate

Implicações psicologicas da (in)fertilidade em mulheres com fenotipo feminino e genotipo discordante

Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

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