Disorders of sex development have posed a tremendous challenge not only in the diagnosis but also in the treatment, placing the patient, the family members, and the health team in the difficult task of attributing the best sex of rearing for that specific patient. A confusing and stigmatizing nomenclature has been employed and the Chicago Consensus tried to minimize the discomfort with modifications of the current terminology. The authors perform a critical analysis of the Consensus, raising the question that […]

OBJECTIVE: To report the experience regarding patients with steroid 5a-reductase type 2 deficiency from three different clinical services in Brazil. CASUISTIC AND METHODS: Twenty five patients with clinical and hormonal features of 5a-reductase deficiency from 23 families (15 from Bahia, 7 from São Paulo and 1 from Minas Gerais) were included in this study. Clinical, hormonal and molecular data were evaluated. The molecular analysis of the five exons of the SRD5A2 gene was done by automatic or manual sequencing of […]

The treatment of intersex disorders has passed through different historical periods. The most important was the age of surgery, during which the dominant concept was that at birth the brain would be adaptable, psychosexually neutral and gender identity the result of educational and social processes. Thus, the preferred and systematic treatment was towards female assignment because from the surgical point of view it was technically more feasible the construction of a vagina than a penis with future normal function. During […]

We report on three patients with the clinical condition known as “XX male”, which is uncommon in the pediatric age group. Patients have a male phenotype (usually without ambiguous genitalia) and testes; however, the karyotype is 46,XX. The diagnosis is usually made in adult life due to infertility; it may also be done by the pediatrician when there is ambiguous genitalia or gynecomastia. The SRY gene (Sex-determining Region of the Y chromosome) is detected in most cases, thus explaining the […]

AIM: to show data on true hermaphrodites (TH) followed in two reference centers in the state of São Paulo. PATIENTS: Twenty-six TH patients have been followed from 1975 to 2004 in the Pediatric Endocrinology Unit, São Paulo University Medical School, and the other 10 patients from 1989 to 2004 in the GIEDDS – UNICAMP. METHODS: Clinical and pathological data were retrospectively analyzed, as well as the decision about the sex of rearing. RESULTS: genital ambiguity was the most frequent complaint […]

OBJECTIVE: To evaluate the anatomical and cosmetic results of feminizing genitoplasty in girls with ambiguous genitalia due to Congenital Adrenal Hyperplasia (CAH). CASUISTIC AND METHOD: Twenty-seven females with genital ambiguity (Prader III-V) due to CAH underwent an one-stage feminizing genitoplasty and were followed for a mean time of 4 years. In twelve girls, two cutaneous labioscrotal island-flaps were associated with the conventional genitoplasty, to decrease the excess of labia majora and to enlarge the vaginal introitus. Urinary tract infections were […]

It has become clear that a sexual brain dimorphism exists between males and females and animal studies have shown specific circuits developing depending on the sex. Since the first studies by Gorski, in rats, characterizing a sexually dimorphic nucleus in the pre optic area (SDN-POA) it has been accepted that the male sex imprint is done by estradiol, locally converted from testosterone through the action of a local aromatase. The presence of estradiol inhibits the apoptosis of the cells of […]

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 […]