Amenorréia primária e cariótipo XY: identificando pacientes em risco

Rosa, Rafael Fabiano Machado; Dibi, Raquel Papandreus; Toscani, Nadima Vieira; Silva, Leonardo Leiria Moura da; Zen, Paulo Ricardo Gazzola; Graziadio, Carla; Paskulin, Giorgio Adriano

doi:10.1590/s0100-72032008001100007

Cited by 3 publications

(1 citation statement)

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“…Among patients with CAIS, 7 attended firstly the ambulatory with 0 to 9 years old, and 2 at 12 years of age. Late referral usually refers to patients with female phenotypic sex with symptoms of primary amenorrhea at puberty ( 30 , 31 ). The most precocious diagnosis of CAIS usually occurs due to identification of a testicle during hernia repair surgery in a patient with a phenotypic female genitalia or through palpation of testicles at inguinal region.…”

Section: Discussionmentioning

confidence: 99%

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

et al. 2015

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The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals.

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Section: Discussionmentioning

confidence: 99%