Genetics of hypogonadotropic hypogonadism

SB Seminara, LMB Oliveira, M Beranova… - Journal of …, 2000 - Springer
Determining the physiologic influences that modulate GnRH secretion, the prime initiator of
reproductive function in the human, is fundamental not only to our understanding of the rare …

Advances in the Molecular Genetics of Hypogonadotropic Hypergonadism

JC Achermann, JL Jameson - Journal of Pediatric Endocrinology …, 2001 - degruyter.com
Mutations in several genes have been shown to cause hypogonadotropic hypogonadism
(HHG) in humans. This condition may result from abnormalities in hypothalamic …

Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH …

Y Bo-Abbas, JS Acierno Jr, JK Shagoury… - The Journal of …, 2003 - academic.oup.com
Failure of the normal pattern of episodic secretion of GnRH from the hypothalamus results in
the clinical syndrome of idiopathic hypogonadotropic hypogonadism (IHH), with failure of …

Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes

K Beate, N Joseph, R Nicolas… - International journal of …, 2012 - Wiley Online Library
Hypothalamic gonadotropin releasing hormone (GnRH) is a key player in normal puberty
and sexual development and function. Genetic causes of isolated hypogonadotropic …

Molecular and genetic aspects of congenital isolated hypogonadotropic hypogonadism

LGL Amato, AC Latronico… - … and Metabolism Clinics, 2017 - endo.theclinics.com
Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism -
Endocrinology and Metabolism Clinics Skip to Main Content Advertisement Endocrinology and …

The molecular basis of human hypogonadotropic hypogonadism

LC Layman - Molecular genetics and metabolism, 1999 - Elsevier
Patients with hypogonadotropic hypogonadism (HH) present with delayed puberty, infertility,
and low serum gonadotropins. The molecular basis for most cases of HH is unknown, but …

Hypogonadotropic hypogonadism

LFG Silveira, GS MacColl… - … in reproductive medicine, 2002 - thieme-connect.com
Hypogonadotropic hypogonadism is characterized by failure of gonadal function secondary
to deficient gonadotropin secretion, resulting from either a pituitary or hypothalamic defect …

[HTML][HTML] Genetics of hypogonadotropic hypogonadism

AC Millar, H Faghfoury, JM Bieniek - Translational Andrology and …, 2021 - ncbi.nlm.nih.gov
Male congenital hypogonadotropic hypogonadism (CHH) is a heterogenous group of
genetic disorders that cause impairment in the production or action of gonadotropin …

Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism

ML Kottler, R Counis, P Bouchard - Archives of Medical Research, 1999 - Elsevier
Mutations in a few genes have been identified in hypogonadotropic hypogonadism (HH): the
gene KAL-1 is involved in X-linked Kallmann syndrome associated with anosmia and …

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

YM Chan, A de Guillebon… - Proceedings of the …, 2009 - National Acad Sciences
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition characterized by failure to
undergo puberty in the setting of low sex steroids and low gonadotropins. IHH is due to …