Delayed female sexual maturation. How to approach differential diagnosis.
Delayed sexual development is present when an adolescent girl fails to experience, at an age that is beyond the average for her peers, those pubertal events that are indexes of gonadal function. Adolescent girls whose sexual development is delayed can be divided into three groups: (1) those who have not menstruated but have well-developed secondary sexual characteristics, indicating that they have a functioning hypothalamic-pituitary-ovarian mechanism, (2) those with poorly developed secondary sexual characteristics whose hypothalamus and pituitary are functional but who have ovarian failure, as indicated by high levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (hypergonadotropic hypogonadism), and (3) those with poorly developed secondary sexual characteristics whose normal ovaries are not functioning because of a hypothalamic or pituitary disorder, as indicated by low or low normal serum FSH/LH levels (hypogonadotropic hypogonadism). There are, in addition, individuals with a female habitus and external female genitalia who were reared as females but have an XY karyotype and come to the physician with a complaint of delayed female sexual maturation.
D000293:Adolescent; D001827:Body Height; D002648:Child; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008572:Menarche; D008598:Menstruation; D010050:Ovarian Function Tests; D010808:Physical Examination; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis; D011374:Progesterone; D011388:Prolactin / Q000097:blood; D011628:Puberty, Delayed / Q000175:diagnosis* / Q000503:physiopathology; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D012741:Sexual Maturation; D014623:Vaginal Diseases / Q000175:diagnosis
D011374:Progesterone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone