Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.

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Term Occurence Count Dictionary
polycystic ovary syndrome 1 endocrinologydiseases
Kallmann syndrome 2 endocrinologydiseases
adrenal insufficiency 1 endocrinologydiseases
hypogonadism 5 endocrinologydiseases
obesity 1 endocrinologydiseases

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Kallmann syndrome 628 12/2017AbstractTraditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported
Kallmann syndrome 3217 define those IHH cases with no apparent causes. Traditionally, IHH is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). IHH can be congenital or acquired. The great majority of hereditary causes
adrenal insufficiency 18507 cause X-linked congenital adrenal hypoplasia with HH ([61]). Adrenal hypoplasia typically presents as adrenal insufficiency during infancy, whereas HH becomes manifest in affected males who survive into the second decade of
hypogonadism 571 date (ppub): 12/2017Publication date (epub): 12/2017AbstractTraditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date,
hypogonadism 2796 manifests itself as sexual immaturity and reproductive incompetence, which can be succinctly termed as hypogonadism . If lack of such development is due to anatomical or functional defects, resulting in reduced gonadotropin
hypogonadism 3011 gonadotropin releasing hormone (GnRH) and/or gonadotropin release, the condition is called hypogonadotropic hypogonadism (HH).1. Idiopathic Hypogonadotropic HypogonadismThe term idiopathic HH (IHH) is used to define those
hypogonadism 26208 contemporary sequencing technologies, it appears that studies into the genetics of hypogonadotropic hypogonadism will continue to advance our knowledge in both the biological and clinical domains.Table 1Genetic causes
hypogonadism 26357 knowledge in both the biological and clinical domains.Table 1Genetic causes of idiopathic hypogonadotropic hypogonadism m
obesity 18266 patients are easily recognizable among other IHH patients with because of the presence of early onset obesity and hyperphagia.NR0B1 (DAX1)NR0B1 is an orphan member of the nuclear receptor superfamily. Inactivating
polycystic ovary syndrome 1951 hearing loss (CHD7). Also, IHH-associated gene studies may be translated into new therapies such as for polycystic ovary syndrome . In a scientific sense, the most significant contribution of IHH-associated gene studies has been the

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