OBJECTIVE To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service. METHODS Cross-sectional study of 1,068 medical records of patients treated between April/2008 and August/2014. A total of 115 cases suggestive of genitourinary anomalies were selected, regardless of age. A standardized clinical protocol was used, as well as karyotype...

INTRODUCTION Ambiguous Genitalia is a form of birth defect in which sex of the newborn cannot be readily distinguishable because of atypical appearance of the external genitalia. CASE REPORT-CLINICAL FINDINGS The patient, an 8 months old baby, was identified as a female baby since birth; but, some senior members of their neighborhood raised confusion regarding sex differentiation of the child...

Sex determination in mammals is different, as a single bipotential gonad can develop either into a testes or an ovary. If this genetic process which is largely complex gets disrupted during development of a human being it can lead to disorders of sex development. There are two separate processes by which sex development takes place namely i) sex determination whereby the bipotential gonad forms...

OBJECTIVE To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder METHODS Patients referred for evaluation of virilization, precocious puberty, ambiguous genitalia and salt wasting had blood taken for 17-hydroxyprogesterone (17-OH progesterone) which was measured by Enzyme-Linked Immunosorbent Assay (ELISA). RESULTS Nine patients had elevated...

As if from nowhere, intersexuals are materializing everywhere, and the boundaries separating the masculine and feminine seem harder than ever to define. This change has added another dimension to the debate on how to treat newborns of genital ambiguity. Reprinted from Sciences 40 (Jul/Aug 2000): 18-23. Copyright New York Academy of Sciences

We examined the neural correlates of semantic ambiguity by measuring changes in MEG recordings during a visual lexical decision task in which the properties of ambiguous words were manipulated. Words that are ambiguous between unrelated meanings (like bark, which can refer to a tree or to a dog) were accessed more slowly than words that have no unrelated meanings (such as cage). In addition, wo...

Disorder of sex development (DSD) presents a unique challenge, both diagnostically and in terms of acute and longer-term management. These are relatively rare conditions usually requiring a multidisciplinary approach from the outset and the involvement of a tertiary centre for assessment and management recommendations. This article describes the structure of the multidisciplinary team (MDT) at ...

INTRODUCTION • 2 I. THE REMARKABLE CASE OF JOHN/JOAN • 5 II. THE DEVELOPMENT OF A SURGICAL STANDARD OF CARE • 12 A. Standards of Care Within the Medical Community • 12 B. The Surgical Standard in Treatment ofAmbiguous Genitalia . 16 C. Standard Care and Malpractice Claims 27 III. PARENTAL CONSENT TO GENITAL SURGERY AND SEX REASSIGNMENT ON BEHALF OF CHILDREN • 34 A. The Doctrine of Informed Cons...

1Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, University of Patras Medical School, Patras; 22nd Department of Obstetrics and Gynecology, Division of Pediatric, Adolescent Gynecology and Reconstructive Surgery, University of Athens, Medical School, Aretaieion Hospital, Athens, 31st Department of Endocrinology, Diabetes Centre, “Alexandra” Hospital, Athens HORM...