Talk:BGDB Sexual Differentiation - Abnormalities

From Embryology

BGD Internal Links 2009 Male/Female Practical 6. 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