Iron Overload : A Cause of Primary Amenorrhea

Naredi, Nikita; Seth, Atul; Sharma, Ajay

doi:10.1016/s0377-1237(11)80029-8

Cited by 4 publications

(5 citation statements)

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“…Short stature was defined as height more than 2 SD below mean for age, sex and race 50 .Hypogonadotropic hypogonadism was defined as LH and FSH levels below 2 IU/L, with an estradiol concentration of below 20 pg/mL in girls or a testosterone concentration of below 3 ng/mL in boys 7 .Hypogonadism was defined by lack of breast development in girls and lack of testicular enlargement in boys(less than 4 ml) as measured by preorcidometer by the age of 16 year 51 .Hypothyroidism was defined as a low serum thyroxin (T4 < 4.5 µg/dl and T3 < 82 ng/dl) with an elevated serum TSH concentration (>4 µIU/ml) 52 .Hypoparathyroidism was defined as low parathormone level (with a reference range from 15–65 pg/ml), low total and ionized serum calcium, high serum phosphate, normal serum magnesium and alkaline phosphatase levels 19 .Diagnosis of DM was based on measurement of fasting blood glucose level according to American Diabetes Association, WHO Criteria and National Diabetes Health Group 1979 53 .Patients were considered to have cardiac complications if they have positive cardiac history (palpitations, irregular heart rate, chest pain, dyspnea, exercise intolerance, nocturnal cough, orthopnea, dependent edema, or unexplained fevers) and exam (systemic or pulmonary venous congestion, gallop, and edema) and/or abnormal echocardiographic or electrocardiographic findings.Patients were considered to have Hepatitis C based on a positive PCR result.Cardiac T2* above 20 ms was considered normal, 15–20 ms: mild cardiac iron overload, 10–15 ms: moderate cardiac iron overload and below 10 ms: severe cardiac iron overload. Mean liver iron content (LIC) below 3 mg/g dw was considered normal.…”

Section: Methodsmentioning

confidence: 99%

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Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study

Hassan

Zakaria

Fathy

et al. 2018

Sci Rep

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In beta thalassemia, the degree of globin chain imbalance is determined by the nature of the mutation of the β-gene. β° refers to the complete absence of production of β-globin on the affected allele. β+ refers to alleles with some residual production of β-globin. The homozygous state results in severe anemia that necessitates regular blood transfusion. On the other hand, frequent blood transfusion can lead to iron overload resulting in progressive dysfunction of the heart, Liver as well as multiple endocrinopathies. We studied the impact of genotype on the development of disease complications in patients with β thalassemia. A Cross sectional study was carried on 73 patients with beta thalassemia. Genotyping was determined by DNA sequencing technique. Routine investigations as well as MRI liver and heart were performed to assess iron overload. We found that β+β+ was the most common genotype in our patients followed by β°β° and β°β+. Mean Liver iron content (LIC) was significantly higher in β°β° compared to β°β+ and β+β+ genotypes and mean cardiac T2* was significantly lower in β°β° compared to β°β+ and β+β+ genotypes. Hepatic complications, hepatitis C, cardiac complications and some endocrinopathies were significantly higher in patients with β°β° genotype compared to other genotypes which explain the role of the underlying genetic defect in thalassemia patients in development of disease complications.

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Section: Methodsmentioning

confidence: 99%

“…Hypogonadism was defined by lack of breast development in girls and lack of testicular enlargement in boys(less than 4 ml) as measured by preorcidometer by the age of 16 year 51 .…”

Section: Methodsmentioning

confidence: 99%

Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study

Hassan

Zakaria

Fathy

et al. 2018

Sci Rep

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“…Though the secondary hypogonadism is more common, which leads the impairment in the production and release of gonadotropins in the pituitary, and GnRH in the hypothalamus. 12,20,21 The hypogonadism is more common in men than in women. It has been previously established that there was no sign of hypogonadism has been found in women with HH,such as loss of libido or early menopause.…”

Section: Discussionmentioning

confidence: 99%

Hemochromatosis as a cause of central primary Amenorrhea: A literature review and case report

Raupp¹,

Piccinini²,

Hentschke³

et al. 2019

Hum. Reprod. Arch.

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Introduction: Hereditary hemochromatosis (HH) is a genetic disease that causes systemic iron overload. The excess of iron accumulates in several organs, leading to organ dysfunction. Therefore, the excess of iron deposition might create an endocrine impairment, and can further lead to hypogonadism and, rarely, to amenorrhea. In this study, we aim to report a rare cause of HH and primary amenorrhea, with the help of clinical investigations. case Description: This study is based on a single patient who was diagnosed with amenorrhea. The patient had a previous history of HH, type I diabetes mellitus, and chronic liver disease. The physical and hormonal investigations were normal, and her karyotype was 46 XX. A magnetic resonance imaging (MRI) demonstrated a diffuse reduction of the pituitary tissue signal, which might resemble HH. Discussion: The diagnosis of HH is based on a biochemical and genetic evaluation. The treatment includes regular phlebotomies and the control of comorbidities. In most of the cases, the hypogonadotropic hypogonadism leads to amenorrhea due to a pituitary impairment. However, a rare appearance of amenorrhea without hypogonadism may also be possible. Hence, the investigation of HH should be suggested incases of primary amenorrhea. The early diagnosis of HH is crucial to prevent the morbidity and mortality in patients with these clinical features.

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“…These results agreed with papadim et al, who showed that hypogonadism is clinically diagnosed in a female by the presence of primary or secondary amenorrhea without development or with development of secondary sexual characteristics. Absence of breast development suggestive to be due to hypogonadism [ 9 ] . While, absence of pubic and axillary hair agreed with Elsedfy et al, 2011 ]10[who showed that adrenal androgen production declines with advancing puberty in thalassemic patients and might explain the absent development of pubic and axillary hair observed in this condition.…”

Section: Discussionmentioning

confidence: 99%

The Role of Reproductive Hormones on Fertility with Beta-Thalassemia

2016

IJSR

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Beta thalassemia major is a common genetic blood disorder which is the most severe form of thalassemia, and an inherited disease resulting from homozygosity or compound heterozygosity for beta thalassemia with severe reduction or total absence of beta globin chains. Blood transfusions are mandatory for survival of beta thalassemia major patients which leads to iron overload, subsequent tissue damage and oxidative stress.Failure of pubertal growth, delay or absence of sexual development, amenorrhea, sexual dysfunction and infertility due to hypogonadism are well-recognized disturbances of the hypothalamic " pituitary " gonadal axis in β-thal patients.

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Iron Overload : A Cause of Primary Amenorrhea

Cited by 4 publications

References 4 publications

Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study

Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study

Hemochromatosis as a cause of central primary Amenorrhea: A literature review and case report

The Role of Reproductive Hormones on Fertility with Beta-Thalassemia

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