外生殖器性别清的鉴别诊断与处理.pptVIP

Differential Diagnosis of Ambiguous Genitalia (AG)  Tian Qin-jie Dept. OB/GYN, PUMCH, CAMS WHO Collaborating Centre for Training and Research in Human Reproductive Health Determination of newborn’s sex mostly depends on the appearance of external genitalia What’s the most common reason?How do we find the reasons? Disorders of Sex Development (DSD) Definition: DSDs are congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical Pediatrics,2006,Nov The incidence of DSD is about 1/1,000 newborns NIH, USA 2000 New classification of disorders of sex development (1996) Summary of DSD Various types and different etiologies Different DSDs might have similar manifestations Same DSD might have different manifestation Complicated, easily-confused HOW TO MAKE A CORRECT DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS? Key points Familiar with each disorders Useful clues and procedure Manifestation of DSD AG is one of most common complains At birth/puberty 23.3% of DSD, PUMCH, 2001 Amenorrhea Underdeveloped breast and/or sexual hairs Short status Basic Knowledge I. The Differentiation and Development of External Genitalia Originates from same structure Depends on: Testis differentiation Leydig Cells Androgens in genitalia during fetal development Testosterone 5α -reductase DHT Function of androgen receptor (AR) 2. Degree of labium-scrotum fusion related to the timing of androgen Under influence of high level of androgen Before gestational 12 weeks tend to have more signs of virilism-girl small penis, hypospadias or partial fusion of scrotum After gestational 12 weeks Girl will only have clitomegaly Androgen Plays the most important role in the normal development of external genitalia 3. Dysfunction of androgen plays the key role in AG Classification of Ambiguous Genitalia－2001 Differential Diagnosis History: familial diseases? drug used during pregnancy? PE: Height, axillary and pubic hairs