Mar 1, 1988 - Although cirrhosis was present on liver biopsy ... were no peripheral stigmata of Ii ver dis- ease. .... vanced alcoholic. liver disease both hy.
BRIEF COMMUNICATION
Hypothalamic hypogonadisrn in hernochrornatosis: A case report IGOR MATWIJIW, MD, FRCP(C), GERALD D. ILIFFE, MD, FRCP(C), A[)J E. MEHTA, MD, FRCP(C), CIIARLES FAIMAN, MD, FRCP(C)
ABSTRACT: A 42-ycar-olJ man developed hypogonadorroptc hypogonadism due to primary hemochromatosis. Endocrine cvaluarion indicated a hvpothalamic defccr in rhe control of gonadorropin secretion. Although cirrhosis was present on liver biopsy, ocher major features of the hemochromatosis syndrome were not manifest. Parienrs with hemochromacosis arc now being diagnosed at earlier stages of disease. Clinicians should be alert to possible early development of hypochalamopituitary dysfunction and should be prepared co perform derailed cndocrinological investigations in such patients. Can J G a stroentero l 1988; 2(1): 3 1-34 Key Words: Hemochromatosis, Hyt>ogonad1.1m, Hypothalamus, Pituiwry gonadorropms
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RIMARY IDIOPATHIC HEMOCIIRO·
matosis is a slowly developing hereditary metabolic disorder characterized by excessive absorption of iron from Lhc gut and iLs deposit ion with in rhe parenchymal cells of t he body. The liver, pancreas and skin as well as the heart, joints and the a nterior pituitary gland appear co be particularly affected (1-3). Typically, patients are middleaged men who present with u nexplained cirrhosis accompanied by
diabetes mell1tus and abnormally pigmented skin (l,3). Hypogonadocropic hypogonadism occurs 111 up to 64% of all individuals with advanced disease (2,3). Primary testicular dysfunction, although less frequent, also may occur
(4,5). The ready availability of laboratory techniques such as assays for serum iron, total iron binding capacity and ferritin, H LA typing and liver biopsy, has made ir possible LO diagnose this
Departments of Medicine und Ph,s1olog:;, Unitersrt:y of Manitoba and the EndocrineMeiabolic Laboracorv, Hcalih Sciences Centre, Winnipeg Correspondence ancl repnncs: Dr I. Mactl'ijiu, G+JCI Healch Sciences Centre, 700 William Awn11e, \\'linnipeg, Munitoba R3E 023 Receit•ecl for publicacion Augusc 14, /987. Accepted October 28, /987
Vol. 2 No. 1. March 1988
disease 111 its early stages (5). Homozygotes can be diagnosed when there is little or no clirncal evidence of disease (4,6). It is, therefore, likely that in the future many cases will be diagnosed before the classic manifestations of the syndrome have developed. Present understanding of disease pathogenesis in advanced hemochromatosis may nOL he applicable to the syndrome in its earliest stages. A case of a 42-year-old man in whom a diagnosis of hemochromawsis was made during the investigation of acquired hypogonadotropic hypogonadism is presented. Endocrine mvcstigaLiom revealed evidence of hypothalamic dysfunction rather than the cypical primary gonadotropc cell fai lure seen in advanced tlisease. C A SE PRESENTATION A 42-year-old white man was referred to the RcproducLivc Endocrine Clinic at the University of Manitoba because of decreasctl libido and impotence which hat! developed over an 18month period. He was subsequently referred ro the Section of Gasrroentcrology for investigat1on of elevated liver
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al
enzy mes. Prior to this time he had been in good health. Systematic inquiry relevant to his liver disease was negative; in particular, there had bee n no previous history of jaundice, d rug or a lco ho l abuse, blood transfusions, pruritus, skin o r eye complaints. There had been no foreign travel. There was no family history of liver disease or diabetes mellitub. He had previously fathered two children. Physical examination showed him to be 188 cm tall , weight 75 kg. There were no peripheral stigmata of Ii ver disease. In particular, ch ere were no liver palms, spider angiomata o r gy nccomasti a. Liver span was 12 c m in the mid-clavicular line a nd increased in co nsistency. He had normal body propo rtio ns an
