Hypopituitarism in Primary Haemochromatosis; Postgrad Med J: First Published As 10.1136/Pgmj.71.835.297 on 1 May 1995

Reversible hypopituitarism in haemochromatosis 297

Hypopituitarism in primary haemochromatosis; Postgrad Med J: first published as 10.1136/pgmj.71.835.297 on 1 May 1995. Downloaded from recovery after iron depletion

R Gama, MJ Smith, J Wright, V Marks

Summary reference range 10-30). Thereafter, he was We report a case of primary haemo- venesected intermittently according to his chromatosis complicated by anterior serum iron concentrations. In 1989, he was hypopituitarism which recovered after prescribed oral mesterolone (Pro-viron, Scher- aggressive venesection therapy. Reversal ing Health) 50 mg twice daily instead of Sus- of anterior hypopituitarism in haemo- tanon but otherwise continued on his other chromatosis following iron depletion has replacement therapy. not been previously described. In 1994, he was referred to the department of medicine in Guildford, and anterior pituitary Keywords: haemochromatosis, hypogonadism, function was re-evaluated. Following with- hypopituitarism drawal of prednisolone for 24 hours, serum cortisol increased from 467 nmol/l to 635 nmol/l one hour after intravenous adminis- Hypogonadotrophic hypogonadism is a com- tration of 250 pg Tetracosactrin (Synacthen, mon complication of primary haemoch- CIBA Laboratories) suggesting recovery of the romatosis in men and although other abnor- hypothalamic-pituitary-adrenal axis. Pituitary malities of pituitary function are recognised, replacement therapy was withdrawn and three hypopituitarism is rare.'-6 months -later anterior pituitary function was We describe a man with primary haemo- normal (table). He remains well on insulin and chromatosis and anterior hypopituitarism. in particular continues to enjoy normal sexual Pituitary function recovered following regular function. venesections. Reversal of hypopituitarism following iron depletion has not, to our Discussion knowledge, been previously reported. In haemochromatosis, excess iron is deposited Case report in the pituitary gland and has a particular

predilection for the gonadotrophs.7'8 There- http://pmj.bmj.com/ In 1984 at the age of 42 years, the patient was fore, although hypogonadotrophic hypogonad- diagnosed as having diabetes mellitus and ism is common, symptomatic hypopituitarism haemochromatosis. The diagnosis of haemo- is rare. 1-6 chromatosis was established on the basis of Although considered irreversible,9 three serum iron studies and a characteristic liver cases of partial and complete recovery from biopsy which showed no evidence of cirrhosis. hypogonadotrophic hypogonadism following He was started on subcutaneous insulin regular venesections have been reported.'0'12 therapy, weekly venesections removing one Our case is all the more remarkable, since the on October 1, 2021 by guest. Protected copyright. pint of blood and advised to abstain from patient we described had extensive anterior alcohol. Screening did not uncover other pituitary disease in addition to marked family members with haemochromatosis. hypogonadotrophic hypogonadism, all of In 1986, he complained of absent Royal Surrey County lethargy, which resolved following aggressive venesec- Hospital, Guildford, libido, and impotence of two years duration. tion therapy. Surrey, UK On examination he was hypogonadal. Endo- In conclusion, anterior hypopituitarism is a Department of crine investigations were consistent with rare complication of primary haemochro- Clinical Biochemistry hypopituitarism and, in particular, showed matosis (see box on next page) but one which and Nutrition severe hypogonadotrophic hypogonadism may recover R Gama after iron depletion. Anterior J Wright (table). Computed tomography (CT) of the hypopituitarism complicating haemoch- V Marks brain showed a normal hypothalamus and romatosis is, therefore, a previously unrecog- Department of pituitary gland. He was prescribed intramus- nised cause of reversible hypopituitarism. Medicine cular testosterone esters (Sustanon, Organon) MJ Smith building up to a maintenance dose of 500 mg every month, 100 oral thyroxine daily and Correspondence to ftg Dr R Gama, Clinical 5 mg oral prednisolone every morning. He Investigation Unit, Royal rapidly felt well and his libido gradually Learning point Surrey County Hospital, returned. Guildford, Surrey Regular venesections Anterior hypopituitarism, a rare complication of GU2 5XX, UK continued until 1988, primary haemochromatosis, may be reversible when he became anaemic (haemoglobin 8.8 g/ with aggressive venesection therapy Accepted 30 November 1994 dl) and iron deficient (serum iron 3.2 ytmol/l; 298 Gama, Smith, Wright, Marks

Table Results of investigations Frequency of clinical features Investigation 1986 1994 Reference range at diagnosis in 145 men and 18 women with primary Testosterone (nmol/l) 0.7 18 10-30 haemochromatosis

Luteinising hormone (IU/i) 1.8 4 2-11 Postgrad Med J: first published as 10.1136/pgmj.71.835.297 on 1 May 1995. Downloaded from Follicle-stimulating hormone (IU/l) 1.0 4 1-9 Symptoms: Total thyroxine (nmol/l) - 66 60-150 weakness and lethargy 83% Free thyroxine (pmol/l) 5.0 12.4 9-24 abdominal pain 58% Thyroid-stimulating hormone (mU/1) 2.1 <5 arthralgia 43% 1.52 1.5-3.5 loss oflibido or potency 38% Prolactin (mU/I) 99 <360 amenorrhoea 22% 206 <600 dyspnoea on exertion 15% Dehydroepiandrosterone sulphate <0.1 1.9 0.7-11.5 neurological symptoms 6% (timol/l) Peak cortisol response to insulin- 346 570 >550 Physicalfindings: induced hypoglycaemia (nmol/i) hepatomegaly 83% Peak growth hormone response to 16.2 49.3 >20 pigmentation 75% insulin-induced hypoglycaemia (IU/1) loss ofbody hair 20% Iron (jsmol/i) 51 27 10-30 splenomegaly 13% Iron-binding capacity (jimol/i) 54 51 45-70 peripheral oedema 12% % saturation 94 53 20-55 jaundice 10% Ferritin (JLg/l) 500 36-262 gynaecomastica 8% 33 15-330 ascites 6% Total bilirubin (jtmol/l) 29 26 <20 Otherfindings: Aspartate aminotransferase (IU/l) 48 26 <45 electrocardiogram changes 36% Gamma glutamyl transferase (IU/1) 26 24 <55 cirrhosis 69% Alkaline phosphatase (IU/1) 121 30-115 oesophageal varices 9% 134 80-300 Albumin (g/i) 46 39 34-50 Laboratoryfindings: Electrocardiogram normal increase in serum transaminase activity 62% normal abnormal serum albumin concentration or Chest X-ray prothrombin time 18% diabetes mellitus 55%

Abstracted from information appearing in N EnglJ Med'3 with permission

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