Hypogonadotropic Hypogonadism With Anosmia—Kallmann's Syndrome

Abstract

Clinical observations, hormonal measurements, and olfactory tests have been performed in six patients (five male, one female) with hypogonadotropic hypogonadism and anosmia\p=m-\Kallmann'ssyndrome. All were deficient in gonadotropins and all had an obvious decrease in their primary and secondary sex characteristics. All were verified as anosmic. One patient had a craniotomy, and agenesis of the olfactory bulbs was identified. Although the five male patients had normal basal 17-hydroxycorticosteroid ( 17\ x=r eq-\ OHCS) levels, administration of metyrapone in two of them failed to lead to the predicted rise in these levels, suggesting a defective pituitary reserve. A disorder of hypothalamic dysfunction is suggested, involving the control of releasing factors with hypogonadism and anosmia as the clinical markers. Our experience suggests that the syndrome is not rare and that all hypogonadal patients should be questioned about their sense of smell.Physi ci ans encounter patients who have failed to achieve sexual ma¬ turation and, in order to institute ap¬ propriate treatment, they must make a differential diagnosis of the eunuchoidal state. One such hypogonad¬ al group was first described by Kallmann in 19441 and, curiously, all his pa¬ tients lacked the sense of smell. He was primarily concerned with the ge¬ neric aspects and "Kallmann's syn¬ drome" (hypogonadotropic hypogo¬ nadism with anosmia) was largely overlooked until 1967. Indeed, a re¬ view of the physiology of olfaction written by one of us in that year2 failed to include Kallmann's syn¬ drome as a cause of anosmia. No such diagnoses were made in our center until, in 1969, we adopted the proce¬ dure of questioning each hypogonadal patient about his sense of smell. Since then, six such patients have been identified, and a description of their clinical features and endocrine functions constitute the basis of this report. Patient Summaries Patient 1.-A 33-year-old white man was referred for evaluation of small gen¬ italia. He had never experienced pubertal changes. While in military service he was found to have chromatin-negative hypo¬ gonadotropic hypogonadism and was con¬ sidered to have hypopituitarism. Brief

Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction

“…Hypogonadotropic hypogonadism with anosmia (Kallmann et al 1944, Tagatz et al 1970, Males et al 1973, bears some resemblance to the disorder seen in our patients, although the hypogonadism in the patients described by us is less evident and only one patient has anosmia. Color blindness was, however, described as segregating in the families originally described by Kallmann et al Some of these patients were described as having "complete color blindness"; others had severe red/green defects.…”

Human behavioral sex differences: A role for gonadal hormones during early development?

“…Consequently, although normal prenatal androgenization is uncertain, neonatal androgenization should be reduced in congenital IHH. Also, in addition to hormonal alterations, neurological abnormalities have been noted in some patients (Males, Townsend, & Schneider, 1973;Schwankhaus, Currie, Jaffe, Rose, & Sherins, 1989). Anorchia sometimes is referred to as the vanishing testes syndrome (Wilson & Foster, 1985).…”

Impairment of taste perception in anorexia nervosa and bulimia

“…Another study by Marshall and Henkin (1971) showed that hyposmia and hypogeusia are frequently found in patients with certain types of abnormal menstrual function such as amenorrhea. Males et al (1973) found gross anosmia in patients with Kallmann's syndrome; however, they did not test for taste acuity. In patients with Addison's disease, Henkin et al (1963) found greatly enhanced taste sensitivity when taste thresholds were measured.…”