Idiopathic Hypogonadotropic Hypogonadism

A hereditary autosomal recessive type of hypogonadism characterized by absent or incomplete sexual maturation by age 18 and low levels of circulating GONADOTROPINS and TESTOSTERONE and no other abnormalities of the hypothalamic-pituitary axis. Nonreproductive phenotypes, such as ANOSMIA; CLEFT PALATE, and SENSORINEURAL HEARING LOSS may also occur. Mutations in the GNRHR gene (gonadotropin-releasing hormone receptor) have been identified for HH7. OMIM: 146110

Also Known As:

Networked: 266 relevant articles (4 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Kallmann Syndrome (Kallmann's Syndrome)
2.	Pituitary Diseases (Disease, Anterior Pituitary)
3.	Cryptorchidism (Undescended Testes)
4.	Insulin Resistance
5.	Hypogonadism (Hypergonadotropic Hypogonadism)

Experts

1.	Crowley, William F: 22 articles (12/2017 - 01/2002)
2.	Pitteloud, Nelly: 22 articles (10/2011 - 01/2002)
3.	Seminara, Stephanie B: 18 articles (01/2018 - 01/2002)
4.	Hayes, Frances J: 14 articles (09/2010 - 01/2002)
5.	Plummer, Lacey: 12 articles (01/2018 - 02/2007)
6.	Dwyer, Andrew: 11 articles (10/2011 - 09/2002)
7.	Kaiser, Ursula B: 10 articles (11/2014 - 07/2003)
8.	Layman, Lawrence C: 9 articles (04/2011 - 12/2002)
9.	Li, Jia-Da: 8 articles (01/2022 - 10/2007)
10.	Quinton, Richard: 8 articles (07/2011 - 02/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Idiopathic Hypogonadotropic Hypogonadism:

1.	GonadotropinsIBA 08/30/2018 - "Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. " 08/01/2018 - "Idiopathic hypogonadotropic hypogonadism (IHH) is often caused by hyposecretion of gonadotropin and consequently affects male fertility. " 07/01/2011 - "Impact of long-term gonadotropin replacement treatment on sleep in men with idiopathic hypogonadotropic hypogonadism." 09/01/2010 - "Adult-onset idiopathic hypogonadotropic hypogonadism (AHH) is a rare disorder characterized by an isolated failure of gonadotropin secretion occurring after an otherwise normal sexual maturation in men. " 12/01/2008 - "Idiopathic hypogonadotropic hypogonadism in selective human gonadotropin deficiency in adult man: a case report."
2.	Gonadotropin-Releasing Hormone (GnRH)FDA Link 12/01/2014 - "The study was conducted on a 49-year-old man with adult onset idiopathic hypogonadotropic hypogonadism, which is an acquired form of isolated gonadotropin-releasing hormone deficiency. " 01/01/2009 - "This study aimed to elucidate this phenomenon using a human disease model of GnRH deficiency (idiopathic hypogonadotropic hypogonadism, IHH) in which GnRH input can be experimentally controlled. " 01/01/1986 - "Euthyroid men with idiopathic hypogonadotropic hypogonadism, a condition of deficient GnRH release, provide a unique opportunity to study alpha-subunit secretion before and during administration of a physiological regimen of GnRH administration. " 01/01/2023 - "Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. " 01/01/2023 - "Idiopathic hypogonadotropic hypogonadism (IHH) is a medical condition where there is a deficiency or insensitivity of gonadotropin-releasing hormone (GnRH) without a known cause. "
3.	Estrogens (Estrogen)FDA Link 04/01/1997 - "To assess the efficacy of estrogen antagonist therapy on the function of the hypothalamic-pituitary-testicular axis in a young male runner with significant morbidity attributable to idiopathic hypogonadotropic hypogonadism. " 04/01/1990 - "The microheterogeneity and bioassayable activity of serum FSH (B-FSH) can be regulated by exogenous GnRH in boys with idiopathic hypogonadotropic hypogonadism and by estrogen in a women with gonadal dysgenesis, presumably via hormonally mediated changes in the degree of FSH glycosylation. "
4.	Testosterone (Sustanon)FDA Link 06/05/2017 - "Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male." 06/01/2016 - "This retrospective study assessed treatment preferences and outcome with testosterone or HCG / HCG-FSH combination in Indian male idiopathic hypogonadotropic hypogonadism (IHH) subjects (n = 31) above 18 years of age. " 05/01/2015 - "Idiopathic hypogonadotropic hypogonadism (IHH) is an endocrine disorder defined with the presence of typical clinical signs and symptoms plus laboratory confirmation of serum testosterone (T) levels lower than 300 ng/dl. " 01/01/2009 - "Prediction of testosterone response to human chorionic gonadotrophin in idiopathic hypogonadotropic hypogonadism patients." 01/01/1994 - "In men with idiopathic hypogonadotropic hypogonadism, no relationship was detected by linear regression analysis between seminal plasma Rlx and testosterone, testicular volume, ejaculate volume, or the appearance of sperm in the ejaculate. "
5.	AndrogensIBA 10/01/2023 - "Androgen synthesis/action disorders and idiopathic hypogonadotropic hypogonadism were the most frequent clinical diagnoses, accounting, respectively, for 40.90 and 21.59%. " 05/01/2015 - "Effects of androgen replacement therapy on cornea and tear function in men with idiopathic hypogonadotropic hypogonadism." 03/01/2015 - "Effect of androgen replacement therapy on atherosclerotic risk markers in young-to-middle-aged men with idiopathic hypogonadotropic hypogonadism." 09/01/2013 - "Patients diagnosed as idiopathic hypogonadotropic hypogonadism (IHH) who had onset of puberty (increase in testicular volume >10 ml) while on androgen therapy were studied. " 09/01/2013 - "Progression of puberty after initiation of androgen therapy in patients with idiopathic hypogonadotropic hypogonadism."
6.	inhibin BIBA 10/01/1996 - "To examine the role of inhibin B in the feedback regulation of FSH secretion in the human male, we determined serial levels in 18 men with idiopathic hypogonadotropic hypogonadism (IHH) during their initial 8 weeks of GnRH replacement. " 01/01/2009 - "The aim of this study was to determine whether basal inhibin B levels are able to predict testosterone response to hCG in idiopathic hypogonadotropic hypogonadism (IHH) patients and to evaluate the correlation between inhibin B and gonadotropins in these patients and controls. " 05/01/2008 - "The study included three groups: group I, healthy men (n = 31); group II, men with idiopathic hypogonadotropic hypogonadism receiving pulsatile GnRH (n = 12) selected to represent a spectrum of seminiferous tubular development, testicular size, and baseline inhibin B levels; and group III, men with functional anorchia (n = 3) receiving testosterone replacement. " 09/01/1996 - "We measured and compared inhibin A, inhibin B, and pro-alpha-C-related immunoreactive peptides (pro-alpha-C-RI) in normal men before and after perturbations of their gonadotropin levels and baseline values in normal men and men with various disturbances of the hypothalamic-pituitary-testicular axis including men with idiopathic hypogonadotropic hypogonadism, infertile men with elevated FSH, men with Klinefelter's syndrome, and orchidectomized men. "
7.	LHRH Receptors (Gonadotropin-Releasing Hormone Receptor)IBA 07/31/2003 - "In the present study, we performed functional analyses of four mutations in the human GnRH receptor (GnRHR) gene, identified in patients with idiopathic hypogonadotropic hypogonadism. " 08/30/2018 - "Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings." 01/01/2012 - "To identify and determine the frequency of mutations in the coding region of the gonadotropin-releasing hormone receptor (GnRHR) gene in forty Chinese patients with normosmic idiopathic hypogonadotropic hypogonadism (IHH) and establish genotype/phenotype correlations where possible. " 01/01/2012 - "Human mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene cause normosmic idiopathic hypogonadotropic hypogonadism (IHH). " 01/01/2010 - "Human mutations in the gonadotropin-releasing hormone receptor (GNRHR) gene cause autosomal recessive, normosmic idiopathic hypogonadotropic hypogonadism (IHH). "
8.	SteroidsIBA 11/01/2007 - "The aim of this study was to determine whether acute sex steroid withdrawal decreases insulin sensitivity in young, healthy men with idiopathic hypogonadotropic hypogonadism (IHH). " 03/23/2016 - "Infertility classified as idiopathic hypogonadotropic hypogonadism (IHH) is characterized by delayed or absent sexual maturation and low sex steroid levels due to alterations in neuroendocrine control of the hypothalamic-pituitary-gonadal axis. " 11/01/2007 - "Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadism." 05/01/2006 - "idiopathic hypogonadotropic hypogonadism and hypothalamic amenorrhea) and selective, reversible suppression of the pituitary-gonadal axis to achieve suppression of gonadal steroids (i.e. " 11/01/2018 - "Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism."
9.	Hormones (Hormone)IBA 01/15/2010 - "The aim of this study is to evaluate the association between hormones of male hypothalamo-pitiutary-gonadal axis and cardiac autonomic function by comparing heart rate variability (HRV) parameters of young male idiopathic hypogonadotropic hypogonadism patients with those of healthy controls. " 12/01/2016 - "In idiopathic hypogonadotropic hypogonadism (IHH) etiology, there is gonadotropic hormone release indeficiency which cannot be clearly described. " 11/01/2006 - "Researchers distinguish four methods to investigate hormonal influence on cognitive performance: a) patient with hormonal disorders; b) neuroimaging in individuals during hormone administration; c) in women during different phases of menstrual cycle, and d) in patients receiving hormonal treatment (idiopathic hypogonadotropic hypogonadism, postmenopausal women and transsexuals). " 12/01/2015 - "Most but not all patients with idiopathic hypogonadotropic hypogonadism, a typically long-lasting condition, can achieve fertility with exogenous hormone therapy. " 01/28/2022 - "Idiopathic hypogonadotropic hypogonadism (IHH) is a type of congenital disease caused by a variety of gene variants leading to dysfunction in the secretion of hypothalamic gonadotropin-releasing hormones (GnRHs). "
10.	KisspeptinsIBA 01/01/2010 - "This review discusses the physiology of the kisspeptin signalling system and examines how findings from animal and human studies have contributed to our understanding of the pathophysiology of idiopathic hypogonadotropic hypogonadism." 01/01/2021 - "Inactivating mutations in human kisspeptin gene (KISS1) cause idiopathic hypogonadotropic hypogonadism. " 11/01/2018 - "Individuals with idiopathic hypogonadotropic hypogonadism (IHH), even those with evidence of some hypothalamic reproductive endocrine activity, fail to complete puberty and fail to respond to physiologic doses of kisspeptin. " 05/01/2011 - "Genetic analysis of large consanguineous pedigrees by two independent groups led to the association of inactivating mutations of GPR54, the receptor which mediates kisspeptin action, with idiopathic hypogonadotropic hypogonadism. " 03/01/2009 - "Kisspeptins, and their cognate receptor gpr-54, were first found to regulate the hypothalamic-pituitary-gonadal (HPG) axis in 2003, when two groups demonstrated that mutations in gpr-54 cause idiopathic hypogonadotropic hypogonadism characterized by delayed or absent puberty. "

Therapies and Procedures

1.	Therapeutics 04/01/2015 - "Hormonal therapy (hCG and rhFSH) for infertile men with adult-onset idiopathic hypogonadotropic hypogonadism." 04/01/2011 - "Effects of substitutive therapy on right ventricular systolic and diastolic functions in patients with idiopathic hypogonadotropic hypogonadism." 08/30/2007 - "We describe 15 men in whom reversal of idiopathic hypogonadotropic hypogonadism was sustained after discontinuation of hormonal therapy. " 08/30/2007 - "Idiopathic hypogonadotropic hypogonadism was previously thought to require lifelong therapy. " 01/01/2022 - "Hormonal therapy is effective and safe for cryptorchidism caused by idiopathic hypogonadotropic hypogonadism in adult males."
2.	Aftercare (After-Treatment) 04/01/2012 - "During the follow-up after treatment, there were 36 patients finally defined as delayed puberty, and 204 patients defined as idiopathic hypogonadotropic hypogonadism. " 10/01/1997 - "We have therefore determined serum PSA levels before and 3 months after treatment in 13 patients with idiopathic hypogonadotropic hypogonadism (IHH) and 14 patients with Klinefelter's syndrome. " 05/01/1996 - "We, therefore, determined early morning plasma MT levels at the same hour before and 3 months after treatment in 21 patients with idiopathic hypogonadotropic hypogonadism (IHH), 10 patients with primary hypogonadism, and 11 male controls. " 09/01/1996 - "We, therefore, determined Lp(a), LpA-I, LpA-I:A-II, and other lipoprotein levels before and 3 months after treatment in 22 patients with idiopathic hypogonadotropic hypogonadism (IHH) and in 9 patients with Klinefelter's syndrome. " 05/01/1998 - "Since little is known about the effects of gonadotropin and testosterone treatment on leptin levels in male hypogonadism, we determined fasting plasma leptin levels before and 3 months after treatment in 21 patients with idiopathic hypogonadotropic hypogonadism (IHH), 16 patients with Klinefelter's syndrome and 20 male controls. "
3.	Infusion Pumps (Infusion Pump) 07/01/1989 - "[Effect of treatment of idiopathic hypogonadotropic hypogonadism with an LHRH infusion pump]." 03/01/1987 - "Treatment of idiopathic hypogonadotropic hypogonadism in men with luteinizing hormone-releasing hormone: a comparison of treatment with daily injections and with the pulsatile infusion pump." 11/11/1982 - "Since idiopathic hypogonadotropic hypogonadism is thought to represent a disorder of gonadotropin-releasing-hormone (GnRH) secretion, we used long-term low-dose subcutaneous GnRH, administered in an episodic fashion by a portable infusion pump, in an effort to establish a normal adult pattern of gonadotropin secretion in six men. " 07/01/1989 - "Treatment of idiopathic hypogonadotropic hypogonadism with an intermittent LHRH infusion pump is more physiologic than the repeated injections of gonadotropin previously used. "
4.	Injections 03/01/1987 - "Treatment of idiopathic hypogonadotropic hypogonadism in men with luteinizing hormone-releasing hormone: a comparison of treatment with daily injections and with the pulsatile infusion pump." 07/01/1989 - "Treatment of idiopathic hypogonadotropic hypogonadism with an intermittent LHRH infusion pump is more physiologic than the repeated injections of gonadotropin previously used. "
5.	Ligation 01/01/2013 - "[Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism]." 01/01/2013 - "86 hypogonadal males (76 diagnosed with normosmic idiopathic hypogonadotropic hypogonadism [nIHH] andten with Kallmann syndrome [KS]) and 95 healthy control individuals were studied for the presence of aforementioned genomic rearrangements,using multiplex ligation dependent probe amplification (MLPA). "