title: Unusual presentation with polymenorrhagia and markedly high 17-hydroxy progesterone levels in a lady with Non-Classic Congenital Adrenal Hyperplasia.
abstract: Congenital adrenal hyperplasia is generally associated with oligo-amenorrhea, and its presentation with polymenorrhagia is rare. Here we present a case of an Asian female who presented with polymenorrhagia since menarche, increased body hair growth and enlargement of clitoris for 7-8 years. Examination revealed a normal Body Mass Index, moderate hirsutism, Tanner 5 breasts and significant clitoromegaly. Serum testosterone and 17-hydroxyprogesterone levels were elevated. Ultrasonography revealed normal adrenal glands and polycystic ovaries. adrenocorticotropic hormone stimulation test uncovered borderline cortisol deficiency. Oral dexamethasone was commenced and six months later, she showed improvement though there was no change in hirsutism or clitoromegaly. The case is unique because it presented with polymenorrhagia. Also, such phenomenally high 17-hydroxyprogesterone levels are not expected in non-classic congenital adrenal hyperplasia.
authors.affiliation: Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.
authors.forename: Azra
authors.initials: A
authors.lastname: Rizwan
authors.affiliation: Department of Medicine, Dow University of Health Sciences, Karachi, Pakistan.
authors.forename: Marium
authors.initials: M
authors.lastname: Hayat
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D003951:Diagnostic Errors; D005260:Female; D006628:Hirsutism / Q000209:etiology*; D006801:Humans; D008599:Menstruation Disturbances / Q000209:etiology*; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis*; D055815:Young Adult
chemical_list: D019326:17-alpha-Hydroxyprogesterone
keywords: Non-classic congenital Adrenal hyperplasia, Polymenorrhagia, 17-hydroxyprogesterone.