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Kallmann syndrome-heart disease syndrome

MedGen UID:
928566
•Concept ID:
C4302897
•
Disease or Syndrome
Synonyms: Kallman syndrome with cardiopathy; Kallman syndrome with heart disease
SNOMED CT: Kallman syndrome with heart disease (722027009); Kallman syndrome with cardiopathy (722027009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016515
Orphanet: ORPHA2326

Definition

Syndrome with characteristics of hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Less than 10 cases have been described so far. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKallmann syndrome-heart disease syndrome

Recent clinical studies

Etiology

Congenital Hypogonadotropic Hypogonadism with Early-Onset Coronary Artery Disease.
Takashima A, Yagi S, Yamaguchi K, Kurahashi K, Kojima Y, Zheng R, Ise T, Kusunose K, Yoshida S, Yamada H, Soeki T, Wakatsuki T, Aihara KI, Akaike M, Sata M
J Med Invest 2021;68(1.2):189-191. doi: 10.2152/jmi.68.189. PMID: 33994469
Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.
Coelingh Bennink HJT, Egberts JFM, Mol JA, Roes KCB, van Diest PJ
J Clin Endocrinol Metab 2020 Sep 1;105(9) doi: 10.1210/clinem/dgaa404. PMID: 32594127
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M
J Clin Endocrinol Metab 2020 May 1;105(5) doi: 10.1210/clinem/dgz182. PMID: 31689711
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).
Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavò S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L; Italian Network on Central Hypogonadism; Italian Network on Central Hypogonadism (NICe group)
Eur J Endocrinol 2018 Jan;178(1):23-32. Epub 2017 Sep 7 doi: 10.1530/EJE-17-0065. PMID: 28882981
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
Pinto G, Abadie V, Mesnage R, Blustajn J, Cabrol S, Amiel J, Hertz-Pannier L, Bertrand AM, Lyonnet S, Rappaport R, Netchine I
J Clin Endocrinol Metab 2005 Oct;90(10):5621-6. Epub 2005 Jul 19 doi: 10.1210/jc.2004-2474. PMID: 16030162

Diagnosis

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M
J Clin Endocrinol Metab 2020 May 1;105(5) doi: 10.1210/clinem/dgz182. PMID: 31689711
Male and Female Hypogonadism.
Richard-Eaglin A
Nurs Clin North Am 2018 Sep;53(3):395-405. doi: 10.1016/j.cnur.2018.04.006. PMID: 30100005
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).
Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavò S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L; Italian Network on Central Hypogonadism; Italian Network on Central Hypogonadism (NICe group)
Eur J Endocrinol 2018 Jan;178(1):23-32. Epub 2017 Sep 7 doi: 10.1530/EJE-17-0065. PMID: 28882981
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM
J Med Genet 2011 May;48(5):334-42. Epub 2011 Mar 4 doi: 10.1136/jmg.2010.087106. PMID: 21378379
Delayed puberty and amenorrhea.
Hoffman B, Bradshaw KD
Semin Reprod Med 2003 Nov;21(4):353-62. doi: 10.1055/s-2004-815591. PMID: 14724768

Therapy

Pediatric plenary session. Introduction. Puberty.
Hauffa BP
Horm Res 2007;68 Suppl 5:74. Epub 2007 Dec 10 doi: 10.1159/000110582. PMID: 18174714

Prognosis

Exploring disease comorbidity in a module-module interaction network.
Hwang S, Lee T, Yoon Y
J Bioinform Comput Biol 2020 Apr;18(2):2050010. doi: 10.1142/S0219720020500109. PMID: 32404015
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M
J Clin Endocrinol Metab 2020 May 1;105(5) doi: 10.1210/clinem/dgz182. PMID: 31689711
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM
J Med Genet 2011 May;48(5):334-42. Epub 2011 Mar 4 doi: 10.1136/jmg.2010.087106. PMID: 21378379

Clinical prediction guides

Exploring disease comorbidity in a module-module interaction network.
Hwang S, Lee T, Yoon Y
J Bioinform Comput Biol 2020 Apr;18(2):2050010. doi: 10.1142/S0219720020500109. PMID: 32404015
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M
J Clin Endocrinol Metab 2020 May 1;105(5) doi: 10.1210/clinem/dgz182. PMID: 31689711
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).
Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavò S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L; Italian Network on Central Hypogonadism; Italian Network on Central Hypogonadism (NICe group)
Eur J Endocrinol 2018 Jan;178(1):23-32. Epub 2017 Sep 7 doi: 10.1530/EJE-17-0065. PMID: 28882981
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM
J Med Genet 2011 May;48(5):334-42. Epub 2011 Mar 4 doi: 10.1136/jmg.2010.087106. PMID: 21378379
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
Pinto G, Abadie V, Mesnage R, Blustajn J, Cabrol S, Amiel J, Hertz-Pannier L, Bertrand AM, Lyonnet S, Rappaport R, Netchine I
J Clin Endocrinol Metab 2005 Oct;90(10):5621-6. Epub 2005 Jul 19 doi: 10.1210/jc.2004-2474. PMID: 16030162

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