Hemophilia Carrier Status and Counseling the Symptomatic and Asymptomatic Adolescent
Carriers of hemophilia have a 50% chance of giving birth to a hemophilic son. Approximately 35% may have a lower than normal factor VIII or IX and therefore can be diagnosed without genetic testing. These individuals may present with menorrhagia, menometrorrhagia and dysmenorrhoea. The treatment of menorrhagia is similar to girls without bleeding disorders--tranexamic acid, the oral contraceptive pill and, where acceptable, the levonorgestrel-releasing intrauterine device. Genetic diagnosis is possible for potential carriers--50% families with severe hemophilia carry the intron 22 inversion and databases are available which list most of the causative mutations for hemophilia A and B. Ideally the mutation in the index in a family is known. The testing of adolescents for a recessively inherited condition raises ethical issues and guidance may vary within different countries and cultures.
Available from: Rene Leiva
Available from: Miguel Angel Villasís-Keever
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ABSTRACT: Menstrual disorders are one of the most common concerns in adolescent gynecology. Therefore, it has recently been proposed that the menstrual cycle should be considered as a vital sign. The main menstrual disorders are abnormal uterine bleeding (AUB), dysmenorrhea and amenorrhea or oligomenorrhea. Clinical history and physical examination are the basis for the evaluation of these adolescents. In some patients, radiological and laboratory studies will complement the diagnosis. AUB is considered when the menstrual cycle lasts longer than 7 days and occurs more frequently than each 21 days. In adolescence, the immaturity of the hypothalamic-pituitary-gonadal axis is the main cause. Normally, AUB is seen more often during the first menstrual cycles. Treatment aims to decrease morbidity and medical treatment is sufficient in most cases. Amenorrhea is defined as an absence of menstruation. Treatment depends on the etiology; therefore, it is initially necessary to determine whether it is primary or secondary amenorrhea. In adolescents without pubertal development, Turner's syndrome is the most common cause of primary amenorrhea. Hormonal studies will help determine the cause of secondary amenorrhea such as thyroid or pituitary disease or if it is related to eating disorders or a chronic disease. Dysmenorrhea is classified according to primary and secondary dysmenorrhea (or acquired). Primary dysmenorrhea occurs in >80% of all cases and, unlike secondary dysmenorrhea, is not associated with any abnormality such as endometriosis. The use of anti-inflammatory drugs is the treatment of choice for primary dysmenorrhea, whereas for secondary dysmenorrhea, treatment depends on the etiology.
Available from: scielo.org.mx
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ABSTRACT: Menstrual disorders are one of the most common concerns in adolescent gynecology. Therefore, it has recently been proposed that the menstrual cycle should be considered as a vital sign. The main menstrual disorders are disfunctional uterine bleeding (DUB), dysmenorrhea and amenorrhea or oligomenorrhea. Clinical history and physical examination are the basis for the evaluation of these adolescents. In some patients, radiological and laboratory studies will complement the diagnosis.
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