Lissencephaly has been described in over 10 distinct malformation syndromes. Recently,
we have recognized 5 children from four unrelated families with an almost identical disorder …

Sexual differentiation is the result of complex genetic and endocrine mechanisms that are
closely associated with the development of both the genitourinary system and the adrenal …

Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with
disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective …

One of the most challenging areas in pediatric testicular pathology is the appropriate
understanding and pathological diagnosis of disorders of sexual development (DSD), and in …

We report on 2 phenotypec sisters, one with 46, XY. the other with 46, XX. The 2 girls had
similar related internal malformations, including agonadism, hypoplasia of the right …

EDITOR—The use of hair as a biopsy tissue has been considered for some time. For
instance, in the case of breast cancer, raised zinc levels in head hair have been reported. 1 …

In several syndromes genetic males lack gonadal tissue. A range of phenotypes are seen,
which varies from complete female external genitalia to anorchic subjects with sexual …

Abstract We report on 12‐and 14‐year‐old sisters with a 46, XY chromosome constitution,
normal female external genitalia, and absence of gonadal tissue. Except for omphalocele …

We report on a 19‐week‐old fetus with a 46, XX karyotype, normal female external genitalia,
complete gonadal agenesis, large encephalocele, spina bifida, and omphalocele. We …

La información proporcionada por la biopsia testicular en los estados intersexuales es
primordial para la identificación, clasificación y detección precoz de neoplasias en estos …