Copy number variations (CNVs) have been implicated in various conditions of differences sexual development (DSD). Generally, larger genomic aberrations are more often considered disease-causing or clinically relevant, but over time, smaller CNVs associated with forms DSD. The main objective this study is to identify small and the smallest regions overlap (SROs) patients atypical female genitali...

In reports of scientific investigations the terms “sex” and “gender” are frequently used interchangeably in spite of longstanding acceptance that each refers to different qualities of an individual’s sexuality [20]. While sex is generally acknowledged as determined by biological characteristics that, in most cases, reasonably clearly define an individual as “female” or “male” in terms of their ...

Laparoscopic orchiopexy (LO) was used in place of open surgery in 10 patients for diagnosing cryptorchidism in our department. In this method a large abdominal incision was not given in search of intra-abdominal testes. Anorchia was diagnosed in four patients, which was shown to be bilateral in one. In one subject with ambiguous genitalia, revealing the presence of intra-abdominal gonads e...

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation in which the gonads of an individual are characterized by the presence of both mature ovarian and testicular tissues. The objective of this paper is to report the clinical, cytogenetic and histopathological findings in Sri Lankan patients diagnosed with OT-DSD who were referred to the Human Genetics ...

Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side. The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in ...

We evaluated the long-term results of feminizing genital reconstruction in patients with genital ambiguity with high vaginal confluence. The medical records of 10 consecutive patients with ambiguous genitalia and high vaginal confluence who underwent feminizing genital reconstruction from 1996 to 2007 were reviewed. Seven patients had congenital adrenal hyperplasia, one had mixed gonadal dysgen...

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 study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testic...

Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births. There are indications that the prevalence ...

Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and ...