Ambiguous genitalia--etiology, diagnosis, and therapy.

Patients with ambiguous genitalia stand a far better chance of receiving a rapid diagnosis, appropriate replacement therapy, and functional surgical reconstruction than was the case even a decade ago. Although the etiologies of true hermaphroditism and mixed gonadal dysgenesis remain elusive, most gene defects in female pseudohermaphroditism or CAH have been pinpointed to the 21-hydroxylase gene. Incomplete masculinization has been found to be due to defects in the androgen receptor, 5 alpha-reductase, or enzymes in the pathway from cholesterol to testosterone. SRY point mutations have been implicated in 46XY pure gonadal dysgenesis. Retained müllerian ducts have been attributed to point mutations in the MIS gene; those with normal MIS levels should be expected to have receptor deficits. In utero diagnoses and treatment and diagnosis at the preimplantation stage may prove to be very important for the care of some of these patients, who may be potential candidates for gene replacement therapy. When necessary, surgical reconstruction can be done. If the child is to be raised as a female, clitoral recession, labioscrotal reductions and advancements, and vaginoplasties for exteriorization can be accomplished in early infancy as an extensive one-stage procedure. If patients are to be raised as males, then various types of hypospadias repair can be done, gonads can be replaced with prostheses, the prepenile scrotum can be reconstructed, and müllerian structures can be removed with the goal of preserving the vas deferens. Replacement therapy with glucocorticoids and mineralocorticoids must be precisely managed to permit proper growth, and testosterone, estrogen, and progesterone replacement must be carefully considered and managed. A most important element in the care of these patients is the psychological support that first the families and then the patient require. This must be delivered with sensitivity. The proper care of these complex patients requires that the physician be a scientist as well as a clinician and a skilled technician.

Relation of the internal medicine residency and the medical school curriculum.

Students should have contact with faculty members in internal medicine throughout their medical education. Faculty internists should play a role in admission of students, in the basic science courses of the first year of medical school, and in the introductory course to clinical medicine and pathophysiology of the second year of medical school. The core medical clerkship is not an academic advertisement and should not be designed specifically to attract students to internal medicine. The core clerkship is designed for all students, regardless of their intended specialty and should include inpatient and outpatient care in a context and at a pace that allow time for reflection, reading, and problem solving. The advanced medicine experience should give students at least a glimpse of the mastery of the discipline of internal medicine. For students entering internal medicine, the fourth year of medical school and first year of residency could be combined to improve the content and quality of both.

Hyperthyroidism in the geriatric population.

Although the thyroid gland can become overactive at any age, the syndrome of hyperthyroidism changes considerably in elderly persons. The principal reason is comorbidity. The patient over age 65 is much more likely than a young adult of 20 or 25 to have one or more preexisting disorders when the thyroid becomes overactive. In the elderly, therefore, the classic picture of hyperthyroidism--the constellation of irritability, sweating, palpitations without heart disease, weight loss despite good appetite, goiter, and warm, fine skin, familiar to all physicians--may never develop. Well before it might have appeared, a milder degree of thyroid hyperfunction may become manifest because of worsening of an underlying disease. Accordingly, the recognition of the thyroid disorder is often delayed. The purpose of this article is not so much to review hyperthyroidism as to delineate the special features found in geriatric patients and to describe a simple but effective scheme of evaluation.

The education of medical students: sounds, alarums, and excursions.

The core of good doctoring--what everyone must learn in medical school--is a set of behaviors that link the physician's professional, scholarly, and personal preparation with patients and society. Five general criticisms concern the academic medicine community. These criticisms concern the complexity of the health care system; the difficulty of integrating advances in science and technology into medicine; ethics; the doctor-patient relationship; and the importance of the individual student. Several medical schools use innovative curricula and organization in responding to these concerns, and other schools should study the assessments of these efforts and borrow anything useful. The problems of cost, access, and quality of care in the U.S. system are not primarily the fault of academic medicine and cannot be solved readily by it, but medical education can contribute to the solutions by preparing students to engage the problems.

The physician's responsibility toward hopelessly ill patients. A second look.

Physicians have a specific responsibility toward patients who are hopelessly ill, dying, or in the end stages of an incurable disease. In a summary of current practices affecting the care of dying patients, we give particular emphasis to changes that have become commonplace since the early 1980s. Implementation of accepted policies has been deficient in certain areas, including the initiation of timely discussions with patients about dying, the solicitation and execution in advance of their directives for terminal care, the education of medical students and residents, and the formulation of institutional guidelines. The appropriate and, if necessary, aggressive use of pain-relieving substances is recommended, even when such use may result in shortened life. We emphasize the value of a sensitive approach to care--one that is adjusted continually to suit the changing needs of the patient as death approaches. Possible settings for death are reviewed, including the home, the hospital, the intensive care unit, and the nursing home. Finally, we consider the physician's response to the dying patient who is rational and desires suicide or euthanasia.