A 7-year-old girl is brought in to see you by her mother because the girl has developed breasts and a few pubic hairs. Evaluation demonstrates a pubertal response to a GnRH-stimulation test and a prominent increase in luteinizing hormone (LH) pulses during sleep.
Which of the following is the best treatment for the girl’s condition?
Precocious puberty is diagnosed if a young girl develops pubertal changes before the age of 8 years. This patient is most likely to have true central precocious puberty. The GnRH results and LH pulses described in the question are seen in normal puberty. Normal signs of puberty involve breast budding (thelarche), pubic hair (pubarche or adrenarche), and menarche. Besides an increase in androgens and a moderate rise in FSH and LH levels, one of the first indications of puberty is an increase in the amplitude and frequency of nocturnal LH pulses. In patients with idiopathic central precocious puberty, the pituitary response to GnRH is identical to that in girls undergoing normal puberty. Iatrogenic sexual precocity (ie, the accidental ingestion of estrogens), premature thelarche, and ovarian tumors are examples of sexual precocity independent of GnRH, FSH, and LH function. Precocious puberty can be treated by agents that reduce gonadotropin levels by exerting negative feedback in the hypothalamic—pituitary axis or that directly inhibit gonadotropin secretion from the pituitary gland. Currently, the most effective treatment for central precocious puberty is the use of a long-acting GnRH agonist, such as leuprolide (Lupron) and others. These drugs act by downregulating pituitary gonadotropes, eventually decreasing the secretion of FSH and LH, which are inappropriately stimulating the ovaries of these patients. As a result of this induced hypogonadotropic state, ovarian steroids (estrogens, progestins, and androgens) are suppressed back to prepubertal levels and precocious pubertal development stops or regresses. During the first 1 or 2 weeks of therapy there is a flare-up effect of increased gonadotropins and sex steroids, a predicted side effect of these medications. At the time of expected puberty, the GnRH analogue is discontinued and the pubertal sequence resumes.
A mother brings her daughter to see you for consultation. The daughter is 17 years old and has not started her period. She is 4 ft 10 in tall. On physical examination, she has no breast buds or pubic hair. Her pelvic examination demonstrates a uterus and cervix, but the ovaries are not palpable. As part of the workup, serum FSH and LH levels are drawn and both are high.
Which of the following is the most likely reason for delayed puberty in this patient?
Delayed puberty is a rare condition, and is usually differentiated into hypergonadotropic (high FSH and LH levels) hypogonadism or hypogonadotropic (low FSH and LH) hypogonadism. The most common cause of hypergonadotropic hypogonadism is gonadal dysgenesis (ie, 45X Turner syndrome). Hypogonadotropic hypogonadism can be seen in patients with hypothalamic-pituitary or constitutional delays in development. Kallmann syndrome presents with amenorrhea, delayed sexual development, low gonadotropins, normal female karyotype, and anosmia (a defect in smell). In addition to these conditions, many other types of medical and nutritional problems can lead to this type of delayed development (eg, malabsorption, diabetes, regional ileitis, and other chronic illness). Congenital adrenal hyperplasia leads to early pubertal development, although in girls the development is not isosexual (not of the expected sex) and would therefore include hirsutism, clitoromegaly, and other signs of virilization. Complete Müllerian agenesis is a condition in which the Müllerian ducts either fail to develop or regress early in fetal life. These patients have a blind vaginal pouch and no upper vagina, cervix, or uterus, and they present with primary amenorrhea. However, because ovarian development is not affected, secondary sexual characteristics develop normally despite the absence of menarche, and gonadotropin levels are normal. The McCune-Albright syndrome involves the constellation of precocious puberty, café au lait spots, and polyostotic fibrous dysplasia.
While evaluating a 30-year-old woman for infertility, you diagnose a bicornuate uterus. You explain that additional testing is necessary because of the woman’s increased risk of congenital anomalies in which organ system?
A bicornuate uterus results from partial lack of fusion of the Müllerian ducts, which produces a single cervix with varying degrees of separation in the two uterine horns. This condition is associated with a higher risk of obstetric complications, such as an increase in the rate of second-trimester abortion, preterm labor, malpresentation, and labor abnormalities. An intravenous pyelogram or urinary tract ultrasound is mandatory in patients with Müllerian anomalies since approximately 30% of patients have coexisting congenital urinary tract anomalies.
A 47-year-old G3P3 complains of severe menstrual cramps and heavy menstrual bleeding. Her dysmenorrhea has worsened since the birth of her last child. Pelvic examination demonstrates a tender, diffusely enlarged uterus with no adnexal tenderness. Results of endometrial biopsy are normal.
Which of the following is the most likely diagnosis?
Adenomyosis is a condition in which normal endometrial glands grow into the myometrium. Symptomatic disease primarily occurs in multiparous women over the age of 35 years, compared to endometriosis, in which onset is considerably younger. Patients with adenomyosis complain of dysmenorrhea and menorrhagia, and the classical examination findings include a tender, symmetrically enlarged uterus without adnexal tenderness. Although patients with endometriosis can have similar complaints, the physical examination of these patients more commonly reveals a fixed, retroverted uterus, adnexal tenderness and scarring, and tenderness along the uterosacral ligaments. Leiomyoma is the most common pelvic tumor, but most are asymptomatic, and the uterus is irregular in shape on examination. Patients with endometritis can present with abnormal bleeding, but endometrial biopsies show an inflammatory pattern. Uterine sarcoma is rare, and presents in older women with postmenopausal bleeding and nontender uterine enlargement.
A 28-year-old G3P0 has a history of severe menstrual cramps, prolonged, heavy periods, chronic pelvic pain, and painful intercourse. All of her pregnancies were spontaneous abortions in the first trimester. A hysterosalpingogram (HSG) she just had as part of the evaluation for recurrent abortion showed a large uterine septum. You have recommended surgical repair of the uterus.
Of the patient’s symptoms, which is most likely to be corrected by resection of the uterine septum?
Uterine anomalies such as a uterine septum may cause recurrent miscarriage; thus, women with recurrent miscarriages should have their uterine cavity evaluated. A septate uterus results from partial lack of resorption of the midline septum between the two Müllerian ducts, and may present with varying degrees of septation. Hysterosalpingography, hysteroscopy, ultrasound, CT, and magnetic resonance imaging (MRI) are all potentially useful imaging modalities in this investigation. Hysteroscopic resection of the septum is the method of choice to surgically repair this problem. Dysmenorrhea, dyspareunia, and menometrorrhagia are typically not caused by the presence of a uterine septum.
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