Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men
نویسندگان
چکیده
منابع مشابه
Hypergonadotropic hypogonadism and renal failure due to WT1 mutation.
Puberty is frequently delayed in adolescent patients with chronic renal failure, due to temporarily insufficient hypothalamo-pituitary stimulation of the gonads. In these patients, basal levels of gonadotropins are normal or slightly elevated due to increased plasma half-life of luteinizing hormone (LH) and follicle stimulating hormone (FSH) [1]. However, the response to gonadotropin releasing ...
متن کاملCASE REPORT 46,XY Hypergonadotropic hypogonadism and myasthenia gravis
Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ...
متن کاملA novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): hypergonadotropic hypogonadism.
Address for correspondence: İsmail Hakkı Kalkan, MD, Attar Sokak 21/14, Gaziosmanpaşa/ Çankaya 06700, ankara, Turkey, Tel.: +90 505 270 40 85, e-mail: [email protected] Received 13-03-12, Revised 15-06-12, Accepted 02-07-12 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder caused by mutations in the gene encoding thymidine phos...
متن کاملHypergonadotropic hypogonadism and cerebellar ataxia: an unusual association.
Federal University of São Paulo (UNIFESP), São Paulo SP, Brazil: Department of Neurology and Neurosurgery; Department of Endocrinology; Department of Ophthalmology. The association between cerebellar ataxia and hypogonadism was first described by Gordon Holmes in 1907. It represents a highly heterogenous syndrome with insidious onset. The hypogonadism of most patients with Gordon Holmes syndrom...
متن کاملinvestigating the interaction of language knowledge and strategic competence in the performance of efl learners on reading-to-write and writing-only test tasks
این مطالعه به دو روش کمی و کیفی و با هدف بررسی استراتژی های فراشناختی فراگیران زبان انگلیسی به عنوان زبان خارجی در دو آزمون نوشتن و نوشتن ترکیبی انجام پذیرفت. در بخش کمی برای سنجش میزان استراتژی های فراشناختی از یک پرسشنامه که بر اساس مدل بکمن و پالمر (1996) ساخته شده بود استفاده شد. پایایی و روایی سازه ی پرسشنامه هنگام مطالعه ی پایلوت و روایی محتوای آن با جمع آوری نظرات نُه متخصص در رشته سنجیده...
ذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2020
ISSN: 1664-8021
DOI: 10.3389/fgene.2020.557341