Results 121 to 130 of about 5,072 (157)

Androgen insensitivity syndrome: a review

Journal of Endocrinological Investigation, 2023
Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. The severity of hormone resistance (complete, partial or mild) determines the wide spectrum of phenotypes.We performed a literature review on Pubmed focusing on etiopathogenesis ...
E. Delli Paoli, S. Di Chiano, D. Paoli, A. Lenzi, F. Lombardo, F. Pallotti   +5 more
openaire   +3 more sources

Prenatal Diagnosis of Androgen Insensitivity Syndrome

Fetal Diagnosis and Therapy, 2009
Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed by ...
BIANCA S, CATALIOTTI A, BARTOLONI, Giovanni, TORRENTE I, BARRANO B, BOEMI G, LO PRESTI M, INDACO L, BARONE C, ETTORE G.   +9 more
openaire   +3 more sources

Human Androgen Insensitivity Syndrome

Journal of Andrology, 1995
The clinical and pathophysiologic features of AIS provide a human model for understanding the role of androgen and its receptor in the induction and maintenance of male sex differentiation and function. Upon inspection, one is immediately impressed by the diverse nature of the mutations involved in the spectrum of AIS and the heterogeneous distribution
openaire   +2 more sources

Testicular feminization syndrome (Androgen insensitivity)

Journal of Pediatric Surgery, 1981
Three children with testicular feminization syndrome have been seen in the past 4 yr. Each presented with at least one large inguinal hernia. The gonad was proven to be a testis by frozen section. Gonadectomy and herniorrhaphy were done. The plan is to remove the second gonad after puberty.
D G, Marshall, G H, Valentine
openaire   +2 more sources

Androgen insensitivity syndrome

Reproductive Medicine Review, 1992
Over the past four years, major advances in the understanding of the aetiology and pathogenesis of the androgen insensitivity syndrome (AIS) have occurred. This review aims to summarize current information on clinical, diagnostic, therapeutic and molecular aspects of AIS.
Jennifer A Batch, Mark N Patterson, Leuan A Hughes   +2 more
openaire   +1 more source

Androgen Insensitivity Syndrome

2023
Shirin Yaghoobpoor, Nima Rezaei
  +4 more sources

Androgen Insensitivity Syndrome

Nihon rinsho. Japanese journal of clinical medicine, 2006
Shinji, Komori, Kyoko, Uchida
openaire   +3 more sources

[Androgen insensitivity syndromes].

Annales d'urologie, 1987
The syndromes of androgen resistance illustrate a special field of endocrinology, that is pathology of target-tissues. These syndromes are responsible for male pseudohermaphroditism and provoke in XY subjects, with a normal testicular androgen secretion, abnormalities in the phenotype with all the possibilities from an "idealistically" female phenotype
F, Kuttenn, F, Wright, P, Spritzer, I, Mowszowicz, P, Mauvais-Jarvis   +4 more
openaire   +1 more source

Mild Androgen Insensitivity Syndrome: The Current Landscape

Endocrine Practice, 2022
Rafael Loch Batista, Berenice B Mendonça, Rafael Loch Batista   +2 more
exaly  

The Multifacets of Androgen Insensitivity Syndrome

Journal of Pediatric and Adolescent Gynecology, 2016
openaire   +2 more sources