DSD | Leaders in Pharmaceutical Business Intelligence (LPBI) Group

Posts Tagged ‘DSD’

Disorders of sex development

Posted in Genomic Testing: Methodology for Diagnosis, Medical and Population Genetics, Personalized and Precision Medicine & Genomic Research, Population Health Management, Genetics & Pharmaceutical, Reproductive Andrology, Embryology, Genomic Endocrinology, Preimplantation Genetic Diagnosis and Reproductive Genomics, Reproductive Biology & Bio Instrumentation, tagged development, DSD, Klinefelter syndrome. Turner syndrome, sex, XX, XY on January 28, 2013| Leave a Comment »

Reporter and Curator: Dr. Sudipta Saha, Ph.D.

Disorders of sex development include many different medical conditions. They could happen to anyone, and are actually more common than you might think. You may have heard DSD called terms such as “intersex” or “hermaphrodite” or “pseudohermaphroditism.” However, a meeting of international experts reached consensus that the term “disorders of sex development” should replace those terms. Because there are so many stages of sex development in human life, there are a lot of opportunities for a person to develop along a path that is not the average one for a boy or a girl. When a less-common path of sex development is taken, the condition is often called a “disorder of sex development” or DSD. So DSD is a name given to a lot of different variations of sex development.

These conditions have specific names, and include:

46,XX congenital adrenal hyperplasia (CAH)
Testosterone biosynthetic defects
Androgen insensitivity syndrome (AIS)—can be partial (PAIS) or complete (CAIS)
Gonadal dysgenesis (partial and complete)
Swyer syndrome (46,XY gonadal dysgenesis)
5-alpha reductase deficiency (5-AR deficiency)
46,XY micropenis
Klinefelter syndrome (47,XXY)
Turner syndrome (45,X)
Hypospadias
Epispadias
Mayer-Rokitansky-Kuster-Hauser syndrome (Also called MRKH, Müllerian agenesis and vaginal agenesis)
Sex-chromosome mosaicism (for example mixed gonadal dysgenesis (45,X/46,XY; sometimes referred to as XY Turners)
46,XX/46,XY (chimeric, ovotesticular DSD)
Persistant Müllerian duct syndrome
Kallman syndrome
17-beta reductase deficiency (XX or XY)
46,XY 3-beta-hydroxysteroid dehydrogenase deficiency (HSD deficiency)
Aphallia
Clitoromegaly
46,XY cloacal exstrophy
Progestin-induced virilization

The symptoms associated with intersex will depend on the underlying cause, but may include:

Ambiguous genitalia at birth
Micropenis
Clitoromegaly (an enlarged clitoris)
Partial labial fusion
Apparently undescended testes (which may turn out to be ovaries) in boys
Labial or inguinal (groin) masses — which may turn out to be testes — in girls
Hypospadias [the opening of the penis is somewhere other than at the tip; in females, the urethra (urine canal) opens into the vagina]
Otherwise unusual appearing genitalia at birth
Electrolyte abnormalities
Delayed or absent puberty
Unexpected changes at puberty

Disorders of sex development (DSD) with or without ambiguous genitalia require medical attention to reach a definite diagnosis. Advances in identification of molecular causes of abnormal sex, heightened awareness of ethical issues and this necessitated a re-evaluation of nomenclature. The term DSD was proposed for congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In general, factors influencing sex determination are transcriptional regulators, whereas factors important for sex differentiation are secreted hormones and their receptors.The current intense debate on the management of patients with intersexuality and related conditions focus on four major issues: 1) aetiological diagnosis, 2) assignment of gender, 3) indication for and timing of genital surgery, 4) the disclosure of medical information to the patient and his/her parents. The psychological and social implications of gender assignment require a multidisciplinary approach and a team which includes ageneticist, neonatologist, endocrinologist, gynaecologist, psychiatrist, surgeon and a social worker. Each patient should be evaluated individually by multidisciplinary approach.

Source References:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184510/

http://en.wikipedia.org/wiki/Disorders_of_sex_development

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002634/

http://www.med.umich.edu/yourchild/topics/dsd.htm

http://www.accordalliance.org/dsd-guidelines.html