scholarly journals Hypogonadotropic Hypogonadism in a Female Patient with Thalassemia Major

2021 ◽  
Vol 8 (2) ◽  
Author(s):  
Richmond R Gomes
Keyword(s):  
Female Patient ◽  
Hypogonadotropic Hypogonadism ◽  
Thalassemia Major

scholarly journals A Rare Presentation of Transfusional Hemochromatosis: Hypogonadotropic Hypogonadism

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Rifki Ucler ◽  
Erdal Kara ◽  
Murat Atmaca ◽  
Sehmus Olmez ◽  
Murat Alay ◽  
...  
Keyword(s):  
Sexual Dysfunction ◽  
Iron Overload ◽  
Organ Dysfunction ◽  
Hypogonadotropic Hypogonadism ◽  
Thalassemia Major ◽  
Iron Deposition ◽  
Cellular Damage ◽  
Atypical Presentation ◽  
Rare Presentation ◽  
Parenchymal Cells

Hemochromatosis is a disease caused by extraordinary iron deposition in parenchymal cells leading to cellular damage and organ dysfunction.β-thalassemia major is one of the causes of secondary hemochromatosis due to regular transfusional treatment for maintaining adequate levels of hemoglobin. Hypogonadism is one of the potential complications of hemochromatosis, usually seen in patients with a severe iron overload, and it shows an association with diabetes and cirrhosis in adult patients. We describe a patient with mild transfusional hemochromatosis due toβ-thalassemia major, presenting with central hypogonadism in the absence of cirrhosis or diabetes. Our case showed an atypical presentation with hypogonadotropic hypogonadism without severe hyperferritinemia, cirrhosis, or diabetes. With this case, we aim to raise awareness of hypogonadotropic hypogonadism in patients with intensive transfused thalassemia major even if not severe hemochromatosis so that hypogonadism related complications, such as osteoporosis, anergia, weakness, sexual dysfunction, and infertility, could be more effectively managed in these patients.

Pubertal status and its relation with serum ferritin level in thalassemia major patients

2019 ◽  
Author(s):  
Morteza Alijanpour Aghamaleki MD ◽  
Ahmad Tamaddoni MD ◽  
Hassan Mahmoodi Nesheli MD ◽  
Mahmoud Hajiahmadi PhD ◽  
Motahareh Amouzadeh Samakoush MD ◽  
...  
Keyword(s):  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
Hypogonadotropic Hypogonadism ◽  
Thalassemia Major ◽  
Careful Examination ◽  
Delayed Puberty ◽  
P Value ◽  
Cross Sectional ◽  
Pubertal Status

Background: Thalassemia major (TM) is one of the most common hereditary anemia with multiple endocrinopathies (especially hypogonadism). So, we evaluated the rate of delayed puberty (DP) and its relation with serum ferritin level in patients. Materials and Methods: This cross-sectional (descriptive-analytical) study was conducted on 100 patients with TM between 14-64 years old, admitted to Amirkola Thalassemia Center, Babol, Iran, in 2016. The pubertal status, (Marshall-Tanner scale), existance of DP, and its different types were evaluated. Mean serum ferritin level was measured and the data were classified to three groups of <1500, 1500-2500, and >2500 ng/ml. Data were analyzed using SPSS (version20). Results: Out of 100 patients, 64 (64%) and 36 (36%) were female and male, respectively. Considering age, 23, 77 patients (%) were under and over 20 years old, respectively. Totally, 69 (69%) of them had DP, of whom 64 (92.8%) ones had secondary (central) hypogonadotropic hypogonadism. Mean serum ferritin level (±SD) was 2707.94±1683.42 ng/ml. In addition, 26, 29, and 45 patients had ferritin level <1500, 1500-2500, and >2500 ng/ml, respectively. Thirty two patients with DP (46.4%) had ferritin level above 2500 ng/ml (p-value= 0.623). Conclusion: The results showed a high frequency of DP in TM patients, requiring careful examination and follow-up in terms of puberty for early diagnosis and proper treatment to improve their quality of life, and prevention of the complications like osteoporosis. We couldn't find any significant relationship between serum ferritin level and hypogonadism, even for cases who received enough iron chelators. Keywords: Delayed Puberty, Ferritin, Hypergonadotropic Hypogonadism, Hypogonadotropic Hypogonadism, Thalassemia Major    

Delayed puberty in males with β-thalassemia major: pulsatile gonadotropin-releasing hormone administration induces changes in gonadotropin isoform profiles and an increase in sex steroids

1995 ◽  
Vol 133 (1) ◽  
pp. 48-56 ◽  
Author(s):  
Sandra Valenti ◽  
Massimo Giusti ◽  
Dorothy McGuinness ◽  
Roberta Guido ◽  
Pier Giorgio Mori ◽  
...  
Keyword(s):  
Sex Steroids ◽  
Early Stage ◽  
Hypogonadotropic Hypogonadism ◽  
Thalassemia Major ◽  
Gonadotropin Releasing Hormone ◽  
Delayed Puberty ◽  
Gonadal Function ◽  
Releasing Hormone ◽  
Hormone Administration ◽  
Pulsatile Gnrh

Valenti S, Giusti M, McGuinness D, Guido R, Mori PG, Giordano G, Dahl KD. Delayed puberty in males with β-thalassemia major: pulsatile gonadotropin-releasing hormone administration induces changes in gonadotropin isoform profiles and an increase in sex steroids. Eur J Endocrinol 1995;133:48–56. ISSN 0804–4643 Patients with β-thalassemia major often have pubertal delay, the etiology of which has not been fully elucidated. We investigated the pituitary–gonadal response to short-term subcutaneous pulsatile gonadotropin-releasing hormone (GnRH) administration (150 ng/kg body weight every 120 min for 7 days) in five young males (aged 13.6–19.0 years) affected by β-thalassemia major and presenting signs of delayed puberty. Immunoreactive and bioactive gonadotropin levels were determined and their isoform profiles were examined, before and after GnRH treatment, in a pool of samples collected every 15 min for 240 min. Testosterone, androstenedione, 17-hydroxyprogesterone, dehydroepian-drosterone and 17 β-estradiol were measured as markers of gonadal function on days 0, 1, 3, 5 and 7 of treatment. Five patients (aged 16.9–26.8 years) with confirmed diagnosis of idiopathic hypogonadotropic hypogonadism who were starting pulsatile GnRH therapy were also studied in the same protocol. Increased sex steroid levels were observed in both groups as a result of treatment. On day 7, the thalassemic patients had increased bioactive luteinizing hormone (LH) and follide-stimulating hormone (FSH), although immunoreactive LH and FSH were comparable to day 0. Moreover, fewer acidic and more basic immunoreactive and bioactive isoforms were noted in LH profiles on day 7. Similar results were observed in hypogonadal patients, who also had increased immunoreactive LH and FSH values. We suggest that the early stage of delayed puberty in thalassemia might be characterized by a neuroendocrine dysfunction resulting in an impaired hypothalamic GnRH release, which is inadequate for a proper pituitary stimulation. Pulsatile GnRH treatment seems to re-establish partially the correct pituitary–gonadal function. Sandra Valenti, Department of Endocrinology and Metabolism, 6 Viale Benedetto XV, 16132 Genoa, Italy

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation

Endocrine ◽  
2014 ◽  
Vol 49 (2) ◽  
pp. 553-556 ◽  
Author(s):  
Yoko Izumi ◽  
Ikuma Musha ◽  
Erina Suzuki ◽  
Manami Iso ◽  
Tomoko Jinno ◽  
...  
Keyword(s):  
Female Patient ◽  
Hypogonadotropic Hypogonadism ◽  
Waardenburg Syndrome

scholarly journals Beta-Thalassemia Major and Female Fertility: The Role of Iron and Iron-Induced Oxidative Stress

Anemia ◽  
2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Paraskevi Roussou ◽  
Nikolaos J. Tsagarakis ◽  
Dimitrios Kountouras ◽  
Sarantis Livadas ◽  
Evanthia Diamanti-Kandarakis
Keyword(s):  
Oxidative Stress ◽  
Trace Elements ◽  
Tissue Injury ◽  
Hypogonadotropic Hypogonadism ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Beta Thalassemia Major ◽  
Number Of Patients ◽  
Endocrine Organs ◽  
Reproductive Techniques

Endocrine complications due to haemosiderosis are present in a significant number of patients with beta-thalassemia major (BTM) worldwide and often become barriers in their desire for parenthood. Thus, although spontaneous fertility can occur, the majority of females with BTM is infertile due to hypogonadotropic hypogonadism (HH) and need assisted reproductive techniques. Infertility in these women seems to be attributed to iron deposition and iron-induced oxidative stress (OS) in various endocrine organs, such as hypothalamus, pituitary, and female reproductive system, but also through the iron effect on other organs, such as liver and pancreas, contributing to the impaired metabolism of hormones and serum antioxidants. Nevertheless, the gonadal function of these patients is usually intact and fertility is usually retrievable. Meanwhile, a significant prooxidants/antioxidants imbalance with subsequent increased (OS) exists in patients with BTM, which is mainly caused by tissue injury due to overproduction of free radicals by secondary iron overload, but also due to alteration in serum trace elements and antioxidant enzymes. Not only using the appropriate antioxidants, essential trace elements, and minerals, but also regulating the advanced glycation end products, could probably reduce the extent of oxidative damage and related complications and retrieve BTM women’s infertility.

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