Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The term primary gonadal failure encompasses not only testicular insufficiency in 46,XY males and ovarian insufficiency in 46,XX females, but also those disorders of sex development (DSD) which result in gender assignment that is at variance with the genotype and gonadal type. In boys, causes of gonadal failure include Klinefelter and other aneuploidy syndromes, bilateral cryptorchidism, testicular torsion, and forms of 46,XY DSD such as partial androgen insensitivity. Causes in girls include Turner syndrome and other aneuploidies, galactosemia, and autoimmune ovarian failure. Iatrogenic causes in both boys and girls include the late effects of childhood cancer treatment, total body irradiation prior to bone marrow transplantation, and iron overload in transfusion-dependent thalassaemia. In this paper, a brief description of the physiology of testicular and ovarian development is followed by a section on the causes and practical management of gonadal impairment in boys and girls. Protocols for pubertal induction and post-pubertal hormone replacement - intramuscular, oral and transdermal testosterone in boys; oral and transdermal oestrogen in girls - are then given. Finally, current and future strategies for assisted conception and fertility preservation are discussed.
Best Pract Res Clin Endocrinol Metab 2019 06
PMID:Primary gonadal failure. 3132 96

Approximately 10% of cancers occur in women under 45 years of age. Chemotherapy, radiotherapy, and bone marrow transplantation cure more than 90% of cancer in women, but can result in premature ovarian insufficiency depending on follicular reserve, age, and drugs used. Some benign diseases are also indications for fertility preservation, particularly those requiring chemotherapy (like thalassemia and lupus), recurrent endometriosis, and family history of premature menopause. Social reasons also account for a large proportion of women who wish to postpone pregnancy. This article discusses the two main strategies for fertility preservation, namely oocyte vitrification and ovarian tissue cryopreservation, examining the indications and results of these options. Oocyte cryopreservation is an effective approach, but further studies are needed in cancer patients to ensure the excellent outcomes obtained in women without cancer or in egg donation programs. For prepubertal girls or cases where immediate therapy is required, cryopreservation of ovarian tissue is the only available option.
Best Pract Res Clin Obstet Gynaecol 2020 Jul 21
PMID:Fertility preservation in women for medical and social reasons: Oocytes vs ovarian tissue. 3280 Jul 11


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