title: [Primary amenorrhea: constitutional delayed puberty or hormonal disturbance].
abstract: Investigations were carried out in 2 women of 17 and 18 years with primary amenorrhea, normal external female genitalia and delayed secondary sexual characteristics, for the reasons for delayed puberty. The 17-year-old patient had reduced values of FSH, LH and oestradiol. This disturbance in the hypothalamo-hypophysary axis was caused by hydrocephalus. Menarche occurred following drainage of the fluid. The 18-year-old patient had raised values ofFSH and LH and a lowered oestradiol value. There was therefore a disfunction existing at ovarian level, which appeared to be caused by an XX-gonadal dysgenesis. The patient was treated with hormones which led to breast development and menarche taking place. The cause ofprimary amenorrhea can mainly be divided into three categories: constitutional delayed puberty, delayed puberty due to hypogonadotropic hypogonadism, or delayed puberty due to hypergonadotropic hypogonadism. A carefully taken medical history, together with determination of the serum levels of FSH and LH, is helpful in differentiating between these categories. Subsequently, structured clinical management must be performed in order to approach the differential diagnosis of each of these categories, which will then be followed by the final diagnosis.
authors.affiliation: Máxima Medisch Centrum, afd. Kindergeneeskunde, Veldhoven. J.vanderheyden@cukz.umcn.nl
authors.forename: J C
authors.initials: JC
authors.lastname: van der Heyden
authors.forename: L P F
authors.initials: LP
authors.lastname: Janssens
authors.forename: S L S
authors.initials: SL
authors.lastname: Drop
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000097:blood / Q000209:etiology*; D003937:Diagnosis, Differential; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications*; D006801:Humans; D006849:Hydrocephalus / Q000150:complications*; D007986:Luteinizing Hormone / Q000097:blood
chemical_list: D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone