Endocrine dysfunction, particularly with Hypogonadism,
Infertility, Impotence, decreased libido, early menopause, etc.
This section refers to how the endocrine system may be
affected by too much iron. Unfortunately, patients presenting with these
problems are not usually checked for iron overload but they SHOULD be!
Click on the title to read more about these problems.
Idiopathic Hypogonadotropic Hypogonadism — A Treatable Form of Male
Infertility NEJM Volume 336:410-415 February 6, 1997
Number 6 Treatment with GnRH reversed the hypogonadism and restored
fertility in each of the five men who received long-term therapy.
Conclusions The recognition of adult-onset hypogonadotropic
hypogonadism in men as a distinct disorder expands the spectrum
of GnRH deficiency and identifies a treatable form of male infertility.
Adult onset idiopathic hypogonadotrophic hypogonadism may be overdiagnosed
1998;317:600 ( 29 August )
and Roland made an important point in their Lesson of the Week on diagnosing
adult onset idiopathic hypogonadotrophic hypogonadism. We
have found that although biochemical testing and cranial imaging
are performed routinely to exclude other hypothalamopituitary
disorders, serum iron studies are often neglected.
A history of phlebotomy therapy for hemochromatosis. Crosby WH.
Chapman Cancer Center, Joplin, MO Am J Med Sci 1991 Jan The earlier the
disease is discovered, the less risk of morbidity and mortality. Screening
tests (serum iron, total iron-binding capacity, serum ferritin) are
recommended for all blood relatives of index cases of this hereditary disease
and for all clinics where complications of hemochromatosis may be treated:
liver disorder however mild, diabetes mellitus, heart disease, arthropathies,
sterility, impotence, premature menopause, and abnormal pigmentation of the
Chronic iron overload and toxicity: clinical chemistry perspective.
Clin Lab Sci 2001 Summer; This toxicity involves many
organs leading to a variety of serious diseases such as liver disease, heart
disease, diabetes mellitus, hormonal abnormalities, dysfunctional immune
system, etc. The tissue damage associated with iron overload is believed to
result primarily from free radical reactions mediated by iron.
Diagnosis and management of
by Dr. Anthony Tavill, Director of the Maurice and
Sadie Friedman Center For Digestive Diseases and Liver Disorders, Mathile
and Morton J. Stone Professor of Digestive Diseases and Liver Disorders at
the Mt. Sinai Medical Center,
Professor of Medicine and Nutrition at Case Wetern Reserve University.
[Excellent & thorough article of diagnosis & treatment. This
is a pdf file]
Diagnosis and treatment of genetic hemochromatosis
Rev Prat. 2000 May 1 [Article in French]
Moirand R, Guillygomarc'h A, Brissot P, Deugnier Y. The disease can be
lethal due to liver disease, carcinoma or heart disease, but life expectancy
goes to normal if patients are treated before the occurrence of cirrhosis.
Treatment relies on regular venesections. Familial screening is essential.
Endocrine abnormalities in idiopathic haemochromatosis.
Q J Med. 1983 Winter
Impairment of anterior pituitary function occurs in idiopathic
haemochromatosis but is selective; gonadotrophin and prolactin deficiencies
are common. Clinical hypogonadism is usually hypogonadotrophic in origin.
clinical spectrum and prognosis of hemochromatosis,
in liver function tests (75%), weakness and lethargy (74%), skin
hyperpigmentation (70%), diabetes mellitus (48%), arthralgia (44%), impotence
(45% in males), and ECG abnormalities (31%) were the most frequent findings and
symptoms at diagnosis. Adv Exp Med Biol 1994
DIAGNOSES: A case of Hereditary Hemochromatosis with dilated
micronodular cirrhosis, history of chronic alcoholism from Department of
Pathology, University of Pittsburgh School of Medicine.
Genetic Haemochromatosis: A guideline on Diagnosis & Therapy
compiled on behalf of the Clinical Task Force of the British Committee
for Standards in Haemotology 2/2000 [a pdf file]
and Diabetes– By Paul Steel.
Paul Steel is a diabetes educator with Manningham Community Health Service
in Victoria. He has both a personal and professional interest in
haemochromatosis, the most common genetic disorder in Australia, occurring
in about one in 300 people.
Haemochromatosis as an endocrine cause of subfertility.
BMJ 1998;316:915-916 ( 21 March )
Clinical review. Lesson of the week.
Haemochromatosis is well established as a cause of infertility in both men and
women, usually because iron deposition in the pituitary or the
gonads leads to hypogonadism. As haemochromatosis is a fairly
common disorder it should be considered when subfertility from an
endocrine disorder is being investigated.
Haemochromatosis presenting with loss of libido and impotence
Eur J Gastroenterol Hepatol. 1996 Jul
Haemochromatosis may present in different ways according to the
organ predominantly affected by iron overload. Presentation with symptoms
caused by deficiency of pituitary gonadotrophins is recognized but rarely
reported. We present such a case and argue that haemochromatosis may be a more
common cause of impotence than is presently realized.
- Hemochromatosis can now
be appropriately defined as the presence of two hemochromatosis alleles with or
without organ injury, and with or without the presence of iron overload.
have not been able to retrieve the url to the website from where this came, so
if anyone locates it, please let me know!]
Hemochromatosis and male infertility.
Obstet Gynecol. 1998 Oct The Jones Institute for
Reproductive Medicine, Department of Obstetrics and Gynecology, Eastern
Virginia Medical School, Norfolk 23507, USA.
BACKGROUND: The clinical association of hemochromatosis and infertility is
rare. Hemochromatosis may affect fertility through a variety of mechanisms.
Hemochromatosis: a review. Clin J Oncol
Nurs 2001 Nov-Dec;5(6):257-60 Dolbey CH. Fletcher Allen
Health Care, UHC Campus, Arnold 2, 1 South Prospect Avenue, Burlington, VT,
05401, USA. This disorder affects the liver, pancreas, heart, and endocrine
systems, and if undetected and untreated, organ damage and death can result.
- Hemochromatosis, A simple genetic trait,
Dr. Richard D. Press, Oregon Health Sciences University With the discovery of
the causative gene, the disorder stands revealed as America's single most common
mendelian disease. Unlike other genetic diseases, it is already curable. Indeed,
genetic screening makes it potentially preventable.
Gale Encyclopedia of Medicine
The symptoms of hemochromatosis include fatigue, weight loss,
weakness, shortness of breath, heart palpitations, chronic abdominal pain, and
impaired sexual performance. The patient may also show symptoms commonly
connected with heart failure, diabetes or cirrhosis of the liver. Changes in
the pigment of the skin may appear, such as grayness in certain areas, or a
tanned or yellow (jaundice) appearance.
Cooley Dickinson Hospital
Editor: George R Bowers MD
CDH Oncology January
2000 Volume 4: No. 1.
Hemochromatosis is a common, genetically transmitted disease. The
diagnosis of hemochromatosis is sometimes difficult and frequently missed.
This issue will review the pathogenesis, diagnosis and treatment of this
fascinating disease. Ms. Kathy Fleming will review the management of a most
troubling complication of therapy---lymphedema.
Hemochromatosis: Life Extension Foundation website.
Disease, Prevention & Treatment 3rd editon. Dietary & Vitamin
recommendations listed here including calcium for blocking of iron absorption.
CME Activity, Release Date: 2/28/2000 Expiration Date: 2/28/2002 From the
February 2000 Issue of Physician Assistant Objectives: After
reading the article, the reader should be able to:
1. describe the pathophysiology of hereditary hemochromatosis;
2. recognize the clinical symptoms and signs of hereditary
3. outline screening and evaluation testing; and
4. provide accurate diagnosis, management, and treatment.
Robert B. Hash, MD,
Department of Family Medicine, Mercer University School of Medicine, Macon,
Ga. [J Am Board Fam Pract Dec. 2000]
Considering the prevalence
of the disease, it is important for physicians to consider it in the
differential diagnosis when patients complain of the common signs and
symptoms. For most patients hereditary hemochromatosis can be successfully
treated in the physician's office. Early diagnosis and treatment, before signs
of iron toxicity, if possible, can result in improved quality and quantity of
life for many patients.
Hereditary hemochromatosis in children, adolescents, and young adults.
Am J Pediatr Hematol Oncol. 1988 Spring
Young individuals who should be screened for iron
overload include patients with cardiac myopathies, hypogonadism, amenorrhea,
loss of libido, diabetes mellitus, other endocrine disorders, cirrhosis of the
liver, and arthritis, as well as the siblings, parents, and children of
patients with hereditary hemochromatosis or iron loading of unknown cause.
Hypogonadism in hemochromatosis: reversal with iron depletion.
Ann Intern Med. 1984 Nov Our findings
indicate that in some men with hereditary hemochromatosis and hypogonadism of
either testicular or central origin, sexual function and sex hormone
concentrations can be restored to normal after iron depletion therapy.
Loading and Disease Surveillance
Eugene D. Weinberg Indiana University, Bloomington,
Indiana Emerging Infectious
Diseases Journal, National Center for Infectious Diseases, Centers for
Disease Control and Prevention. Excessive iron in specific tissues and cells
(iron loading) promotes development of infection, neoplasia, cardiomyopathy,
arthropathy, and various endocrine and possibly neurodegenerative disorders.
Overload Disease due to Hereditary Hemochromatosis
National Center for Chronic
Disease Prevention and Health Promotion. Early detection and treatment
for this genetic condition can lessen morbidity and mortality, and in some
cases prevent the onset of disease. Therefore, early detection of
hemochromatosis represents a major chronic disease prevention opportunity.
Overload (Hemosiderosis; Hemochromatosis)
The Merck Manual of
Diagnosis and Therapy Section 11. Hematology And Oncology Chapter 128.
Hemochromatosis is often diagnosed late in the course of disease after
significant tissue injury is present because the clinical symptoms are
insidious and the extent of organ involvement varies; thus, the full
clinical picture evolves slowly.
Management of hereditary hemochromatosis. Blood
Rev. 1994 Dec
Phatak PD, Cappuccio JD. Early diagnosis and
institution of phlebotomy treatments will prevent these manifestations and
normalize life expectancy. Once organ damage is established many of the
manifestations are irreversible. Since the early manifestations of the disease
are subtle, a case can be made for routine screening.
genetics of hemochromatosis
Ann Endocrinol (Paris) 1999 Sep Hemochromatosis is a recessive disorder of iron
metabolism characterized by progressive iron loading of parenchymal organs,
which accounts for clinical complications such as cirrhosis, diabetes mellitus,
cardiopathy, endocrine dysfunctions and arthropathy.
hormone deficiencies in children with hemochromatosis
Journal of Clinical
Endocrinology & Metabolism, Vol 76, 357-361, Copyright © 1993 by Endocrine
conclude that all patients with hemochromatosis need periodic
careful endocrine evaluations because the incidence of endocrine
dysfunction is substantial and they may benefit from hormonal therapy.
Osteoporotic fractures: an unusual presentation of haemochromatosis.
Bone. 1992; The association of
haemochromatosis and osteoporosis is well established, but it is unclear
whether this is due to iron overload, hypogonadism, liver disease, or diabetes
mellitus. We describe a young eugonadal male patient with osteoporotic
fractures as a presenting feature of haemochromatosis, suggesting that factors
other than hypogonadism contribute to osteoporosis.
on Iron Overload and Hemochromatosis CDC website,
Center for Chronic Disease Prevention and Health Promotion. Early
detection of hemochromatosis is essential because the disease’s
potentially serious complications can be prevented by early therapy.
Cases for Diagnosis: A 37 year old male is referred to the liver clinic
for evaluation of abnormal liver related enzymes. Includes pictures of
biopsy slides. Case 96-19: Liver II Contributed by D. Robert Dufour, M.D., CAPT,
MC, USNR-R Date Available: July 22, 1996 - December 31, 1996
Pituitary function in hemochromatosis
Laeger. 1996 Mar 25 [Article in Danish] Investigation of
pituitary function (in first line the gonadotropic and the somatotropic
function) in patients with primary or secondary haemochromatosis is
recommended on wide indications, in order to initiate relevant substitution
guideline development task force of the College of American Pathologists.
Hereditary hemochromatosis. Witte DL, Crosby WH, Edwards CQ,
Fairbanks VF, Mitros FA. College of American Pathologists Clin Chim Acta
1996 Feb. In view of the high prevalence in the American population
(prevalence varies with ethnic background), the low cost of diagnosis and
treatment, the efficacy of treatment if begun early, and, on the other hand,
high costs and low success rate of late diagnosis and treatment, systematic
screening for hemochromatosis is warranted for all persons over the age of
for Iron Overload due to Hereditary Hemochromatosis
CDC website, Reyes, Michele, PhD and Muin J. Khoury, MD, PhD,
Center for Chronic Disease Prevention and Health Promotion Identifying
people early with evidence of iron overload represents a major chronic
disease prevention opportunity.
Testosterone treatment of men with idiopathic hemochromatosis.
Clin Investig 1992 Jul Thus, in male patients with
IHC and lowered plasma testosterone, treatment with testosterone enanthate may
be instituted. Because of the positive effects on general well-being, liver
regeneration capacity, and potency, testosterone should especially be
administered to younger subjects suffering from IHC.
articular damage of hemochromatosis. A little known aspect Recenti Prog
Med 1999 Apr The aim of this report is to underline that the patients with
premature osteoarthritis or unexplained chondrocalcinosis must be screened for
genetic haemochromatosis in order to formulate the correct diagnosis before the
development of severe internal organ involvement.
The case for iron repletion as a promoter in testicular cancer.
Med Hypotheses. 1998 Aug; Evidence to
support this hypothesis includes the following: (a) the iron-related mechanism
of drugs used in the treatment of testicular cancer, (b) dietary associations
with disease frequency, (c) the similarity of time course between historic
increases in testicular cancer incidence and dietary iron availability, and
(d) potential genetic associations with hemochromatosis.
of HFE Mutation Analysis for Hereditary Hemochromatosis:
Need for Physician Education in the Translation of Basic Science to Clinical
Practice Manish Kohli, MB, ChB, Steven A. Schichman, MD, PhD, Louis Fink, MD, Clive
S. Zent, MB, BCh, Department of Internal Medicine, Division of
Hematology/Oncology and the Department of Pathology, John L. McClellan Memorial
Veteran's Hospital and University of Arkansas for Medical Sciences, Little Rock.
Southern Medical Journal
Click on this link to read about HH. Discussion of a liver biopsy is also
to the "Munnsters" main Hemochromatosis page