Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

TOPALOĞLU, A. Kemal

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

A. Kemal TOPALOĞLU (Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Adana, Turkey)

Journal of Clinical Research in Pediatric Endocrinology

6 0

Yıl: 2017 Cilt: 9 Sayı: 2 (Özel) Sayfa Aralığı: 113 - 122 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

Öz:

Traditionally, 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 to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases. It is now well established that about 10-20% of IHH cases recover from IHH either spontaneously or after receiving some sex steroid replacement therapy. Moreover, there may be an overlap or transition between constitutional delay in growth and puberty (CDGP) and IHH. It has been increasingly observed that oligogenic inheritance and clinical recovery complicates the phenotype/genotype relationship in IHH, thus making it challenging to find new IHH-associated genes. In a clinical sense, recognizing those IHH genes and associated phenotypes may improve our diagnostic capabilities by enabling us to prioritize the screening of particular gene(s) such as synkinesia (ANOS1), dental agenesis (FGF8/FGFR1) and 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 characterization of the long-sought gonadotropin releasing hormone pulse generator. It appears that genetic studies of IHH will continue to advance our knowledge in both the biological and clinical domains

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Konular: Endokrinoloji ve Metabolizma Pediatri

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APA	TOPALOĞLU A (2017). Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. , 113 - 122.
Chicago	TOPALOĞLU A. Kemal Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. (2017): 113 - 122.
MLA	TOPALOĞLU A. Kemal Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. , 2017, ss.113 - 122.
AMA	TOPALOĞLU A Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. . 2017; 113 - 122.
Vancouver	TOPALOĞLU A Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. . 2017; 113 - 122.
IEEE	TOPALOĞLU A "Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism." , ss.113 - 122, 2017.
ISNAD	TOPALOĞLU, A. Kemal. "Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism". (2017), 113-122.

APA	TOPALOĞLU A (2017). Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. Journal of Clinical Research in Pediatric Endocrinology, 9(2 (Özel)), 113 - 122.
Chicago	TOPALOĞLU A. Kemal Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. Journal of Clinical Research in Pediatric Endocrinology 9, no.2 (Özel) (2017): 113 - 122.
MLA	TOPALOĞLU A. Kemal Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. Journal of Clinical Research in Pediatric Endocrinology, vol.9, no.2 (Özel), 2017, ss.113 - 122.
AMA	TOPALOĞLU A Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. Journal of Clinical Research in Pediatric Endocrinology. 2017; 9(2 (Özel)): 113 - 122.
Vancouver	TOPALOĞLU A Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. Journal of Clinical Research in Pediatric Endocrinology. 2017; 9(2 (Özel)): 113 - 122.
IEEE	TOPALOĞLU A "Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism." Journal of Clinical Research in Pediatric Endocrinology, 9, ss.113 - 122, 2017.
ISNAD	TOPALOĞLU, A. Kemal. "Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism". Journal of Clinical Research in Pediatric Endocrinology 9/2 (Özel) (2017), 113-122.