In addition to other diagnoses mentioned, other conditionsneed to be considered when evaluating girls with lack ofmenses. The Mayer-Rokitansky-Kuster-Hauser syndrome ofcongenital absence of the uterus occurs in 1 in 4000 to 5000female births. Anatomic obstruction by imperforate hymen orvaginal septum also presents with normal secondary sexualdevelopment without menstruation. The complete syndromeof androgen insensitivity includes normal feminization, absence of pubic or axillary hair, and primary amenorrhea.In this syndrome, all müllerian structures, including ovaries, uterus, fallopian tubes, and upper third of the vagina, are lacking; the karyotype is 46,XY, and subjects have intra-abdominal testes.
When no secondary sexual development is present after the upper age limits of normal pubertal development, serum gonadotropin levels should be obtained to determine whether the patient has a hypogonadotropic or hypergonadotropic hypogonadism (see Table 174-2). Based on gonadotropin measurements only, the differentiation between constitutional delay in growth and hypogonadotropic hypogonadism is difficult; the gonadotropin levels are low in both conditions. Sometimes observation for months or years is necessary before the diagnosis is confirmed. Ultrasound of the pelvic structures in females would be helpful in the workup of delayed puberty.
If a permanent condition is apparent, replacement with sexsteroids is indicated. Females are given transdermal estradiol,low-dose ethinyl estradiol (5 to 10 μg) or conjugated estrogens (starting at 0.3 mg daily, increasing to 0.625 mg or 0.9 mg by6 to 12 months later) in low daily doses until breakthroughbleeding occurs, at which time cycling is started with a dosefor 25 days; on days 20 to 25, a progestational agent, such asmedroxyprogesterone acetate (5 mg), is added to mimic thenormal increases in gonadal hormones and to induce a normal menstrual period. Alternatively combined estrogen and progesterone agents (oral contraceptives) may be used after breakthrough bleeding occurs. In males testosterone enanthateor cypionate (50 to 100 mg monthly with a progressive increaseto 100 to 200 mg) is given intramuscularly once every 4 weeks.This starting regimen is appropriate for patients with hypogonadotropic or hypergonadotropic hypogonadism, and doses are increased gradually to adult levels. Oral agents are not usedfor fear of hepatotoxicity. Patients with apparent constitutionaldelay in puberty who have, by definition, passed the upper limits of normal onset of puberty may be given a 3to 6-monthcourse of low-dose, sex-appropriate gonadal steroids to seewhether spontaneous puberty occurs. This course of therapymight be repeated once without undue advancement of boneage. All patients with any form of delayed puberty are at risk fordecreased bone density; adequate calcium intake is essential. Patients with hypogonadotropic hypogonadism may be able toachieve fertility by the administration of gonadotropin therapyor pulsatile hypothalamic-releasing hormone therapy administered by a programmable pump on an appropriate schedule.Subjects with hypergonadotropic hypogonadism have, by definition, a primary gonadal problem and are unlikely to achievespontaneous fertility.
In subjects with Turner syndrome, the goals of therapy include promoting growth with exogenous human GH supplementation and induction of the secondary sexual characteristics and of menses with low-dose cyclic estrogen/progesterone replacement therapy. Patients with Turner syndrome have had successful pregnancies after in vitro fertilization with a donor ovum and endocrine support.
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Precocious Puberty in the Male Precocious Puberty in the Female