Talk:BGDB Sexual Differentiation - Abnormalities
BGD Internal Links 2009 Male/Female Practical 6. Abnormalities
http://embryology.med.unsw.edu.au/embryology/index.php?title=Genital_System_-_Abnormalities
Australian Statistics
Birth Defects by System
Study the statistical data below and compare the relative contribution of defects in the genital system to the overall data on abnormalities. Note urinary system defects may also impact upon the genital system.
Data shown as a % of all Major Abnormalities based upon published Australian Statistics (1981-1992) using the same groupings as Congenital Malformations Australia 81-92.
Birth Defects Total Number Defect Rate / 10,000 Births
Links: All system statistical data as graphs.
Chromosomal Turner's Syndrome: Monosomy XO, 99% non-viable embryos, fail to sexually mature at puberty.
Klinefelter's Syndrome: 47, XXY, begin normal male, become infertile. Features tall, mental dullness, behaviour problems
Males 46, XX, Develop as male, infertile adults, portion of SRY gene located on one X.
Search the OMIM Database: Pseudohermaphrodite | Turner's Syndrome
Hermaphroditism True: 46,XX, Gonads both ovary and teste tissues, Ovotestes or ovary and testes
Male Pseudohermaphrodites: 46,XY, Gonads of one sex, external genitalia of opposite, Various causes
Female Pseudohermaphrodites: 46,XX, Gonads are ovaries, external genitalia ambiguous, Hyperplastic adrenals secrete androgens
Search the OMIM Database: Hermaphrodite | Pseudohermaphrodite
Gonadal Dysfunction Gonads fail to develop properly.
Gonadal Dysgenesis: 46,XX, Swyer's syndrome
Mixed Gonadal Dysgenesis: 45,X/46,XY
Primary Hypogonadism: 46,XX, affected females
Primary Hypogonadism: Defective anterior pituitary production of gonadotropin, lack of gonadotropin-releasing hormone
Search the OMIM Database: Hypogonadism
Genital Birth Defect Information Medline (USA) provides information on birth defects. Look at the information they provide the general public on specific conditions.
Other resources include:
Mayo Clinic information on Ambiguous Genitalia Turner’s Syndrome Society of the U.S. information on Turner’s Syndrome Klinefelter Syndrome and Associates information on Klinefelter Syndrome
