نتایج جستجو برای: hypergonadotropic hypogonadism

تعداد نتایج: 3728  

Journal: :American journal of medical genetics. Part A 2008
Nicole Tartaglia Shanlee Davis Alison Hench Sheela Nimishakavi Renee Beauregard Ann Reynolds Laura Fenton Lindsey Albrecht Judith Ross Jeannie Visootsak Robin Hansen Randi Hagerman

XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. We report on the results of a cross-sectional, multi-center study of 95 males age 1-55 with XXYY...

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

Journal: :Frontiers in Genetics 2021

Primary ovarian insufficiency (POI) is a clinical spectrum of dysfunction. Overt POI presents with oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. involves chronic health problems to include increased morbidity mortality related estradiol deficiency the associated osteoporosis cardiovascular disease as well psychological psychiatric disorders loss reproductive hormones ...

Journal: :iranian journal of medical sciences 0
zahra razavi department of pediatrics, besat hospital, hamadan university of medical sciences, hamadan, iran hossein emad momtaz department of pediatrics, besat hospital, hamadan university of medical sciences, hamadan, iran

abstract chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. although x-autosome translocations are frequently associated with streak gonads and clinical features of the turner syndrome, the majority of x-autosome carriers may present with a variable phenotype, developmental delay, and recognizable x-linked syndrome...

Journal: :The American journal of medicine 2001
E A Whitsel E J Boyko A M Matsumoto B D Anawalt D S Siscovick

PURPOSE It is unclear whether intramuscular administration of testosterone esters to hypogonadal men is associated with changes in plasma lipids. We therefore analyzed 19 studies published between 1987 and 1999 that focused on male subjects with nonexperimental hypogonadism, treated subjects with an intramuscular testosterone ester and reported pretreatment and post-treatment concentrations of ...

2011
Christa E. Flück Amit V. Pandey Bernhard Dick Núria Camats Mónica Fernández-Cancio María Clemente Miquel Gussinyé Antonio Carrascosa Primus E. Mullis Laura Audi

CONTEXT Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH). OBJECTIVE StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency. Only a few mutations have...

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