History
Kallmann syndrome presents in males and females with delayed puberty and anosmia. These patients lack secondary sexual characteristics. Female patients also give a history of primary amenorrhea.
In children, idiopathic hypogonadotropic hypogonadism (IHH) can present identical to Kallmann syndrome, but without anosmia. Adult-onset IHH presents in men as sexual dysfunction and infertility and in women as amenorrhea.
Stress-related hypogonadotropic hypogonadism presents in women as amenorrhea. Women who lose 10-15% of normal weight for any reason, including excessive exercise, malnutrition, anorexia nervosa, or bulimia, often experience menstrual irregularities or amenorrhea. [8, 18] Anorexia nervosa presents with weight loss greater than 15% of ideal body weight, behavioral changes (ie, altered self-image), and amenorrhea. Bulimia nervosa typically presents with menstrual irregularities and oligomenorrhea. Patients with anorexia and bulimia may also present with depressive episodes, social withdrawal, and other psychosocial disturbances. Men with hypogonadotropic hypogonadism usually present with a chief complaint of decreased libido and erectile dysfunction.
Pituitary dysfunction in women can result in irregular menses or amenorrhea. [8] In the presence of hyperprolactinemia, approximately one third of women have galactorrhea as well. Men with hyperprolactinemia can present with hypogonadism, impotence, infertility, and/or galactorrhea. Occasionally, patients with pituitary tumors complain of visual changes or headaches. Patients with panhypopituitarism often present with fatigue, hypotension, cold intolerance, or inadequate growth. Patients with a history of postpartum hemorrhage requiring blood transfusion who subsequently present with lethargy, anorexia, and inability to lactate should be evaluated for Sheehan syndrome secondary to pituitary necrosis.
Physical Examination
Patients with Kallmann syndrome and IHH fail to develop secondary sex characteristics, eg, facial, body, and pubic hair; musculature; and deeper voice in men and underarm and pubic hair, breasts, and body shape in women. Patients with Kallmann syndrome are also affected by either anosmia or severe hyposmia.
Female athletes in training with amenorrhea caused by hypogonadotropic hypogonadism are noted to have minimal body fat. Patients with anorexia nervosa usually have < 15% ideal body fat. Physical findings in patients suffering from anorexia or bulimia can include lanugo (fine, soft, lightly pigmented hair), dry skin, and/or poor dental enamel from excessive vomiting. Severe cases may result in potential life-threatening gastrointestinal or cardiopulmonary conditions.
Women with prolactinomas present with hyperprolactinemia and, in approximately one third of cases, galactorrhea. Less common symptoms include those related to increased TSH (hyperthyroidism) or GH (acromegaly) levels. Visual field defects resulting from pressure of a pituitary tumor on the optic chiasm are rare. Men or women with panhypopituitarism often have physical findings related to hypothyroidism or adrenal insufficiency.
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MRI of pituitary macroadenoma.
