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Primary gonadal insufficiency

MedGen UID:
349078
•Concept ID:
C1859014
•
Finding
HPO: HP:0008193

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary gonadal insufficiency

Conditions with this feature

Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency
MedGen UID:
90978
•Concept ID:
C0342284
•
Disease or Syndrome
Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.
See: Condition Record
Leukoencephalopathy with vanishing white matter 1
MedGen UID:
1830482
•Concept ID:
C5779972
•
Disease or Syndrome
Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.
See: Condition Record
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency
Leukoencephalopathy with vanishing white matter 1

Professional guidelines

PubMed

Ovarian Aging: Molecular Mechanisms and Medical Management.
Tesarik J, Galán-Lázaro M, Mendoza-Tesarik R
Int J Mol Sci 2021 Jan 29;22(3) doi: 10.3390/ijms22031371. PMID: 33573050Free PMC Article
In Vitro Follicular Activation and Stem Cell Therapy as a Novel Treatment Strategies in Diminished Ovarian Reserve and Primary Ovarian Insufficiency.
Fàbregues F, Ferreri J, Méndez M, Calafell JM, Otero J, Farré R
Front Endocrinol (Lausanne) 2020;11:617704. Epub 2021 Feb 24 doi: 10.3389/fendo.2020.617704. PMID: 33716954Free PMC Article
Mesenchymal Stem Cells as a Bio Organ for Treatment of Female Infertility.
Esfandyari S, Chugh RM, Park HS, Hobeika E, Ulin M, Al-Hendy A
Cells 2020 Oct 8;9(10) doi: 10.3390/cells9102253. PMID: 33050021Free PMC Article

Recent clinical studies

Etiology

Primary Gonadal Insufficiency in Male and Female Childhood Cancer Survivors in a Long-Term Follow-Up Clinic.
Gunn HM, Rinne I, Emilsson H, Gabriel M, Maguire AM, Steinbeck KS
J Adolesc Young Adult Oncol 2016 Dec;5(4):344-350. Epub 2016 May 19 doi: 10.1089/jayao.2016.0007. PMID: 27195593
Treating hypogonadism in younger males.
Yin A, Swerdloff R
Expert Opin Pharmacother 2010 Jun;11(9):1529-40. doi: 10.1517/14656561003742947. PMID: 20482304
Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes.
Aksglaede L, Jensen RB, Carlsen E, Kok P, Keenan DM, Veldhuis J, Skakkebaek NE, Juul A
Eur J Endocrinol 2008 Jun;158(6):803-10. Epub 2008 Mar 5 doi: 10.1530/EJE-07-0709. PMID: 18322303Free PMC Article
Leukodystrophy in patients with ovarian dysgenesis.
Schiffmann R, Tedeschi G, Kinkel RP, Trapp BD, Frank JA, Kaneski CR, Brady RO, Barton NW, Nelson L, Yanovski JA
Ann Neurol 1997 May;41(5):654-61. doi: 10.1002/ana.410410515. PMID: 9153528
Growth and pubertal development in Down syndrome.
Arnell H, Gustafsson J, Ivarsson SA, Annerén G
Acta Paediatr 1996 Sep;85(9):1102-6. doi: 10.1111/j.1651-2227.1996.tb14225.x. PMID: 8888926

Diagnosis

Hypogonadotropic Hypogonadism.
Bangalore Krishna K, Fuqua JS, Witchel SF
Endocrinol Metab Clin North Am 2024 Jun;53(2):279-292. Epub 2024 Feb 19 doi: 10.1016/j.ecl.2024.01.008. PMID: 38677870
Primary Gonadal Insufficiency in Male and Female Childhood Cancer Survivors in a Long-Term Follow-Up Clinic.
Gunn HM, Rinne I, Emilsson H, Gabriel M, Maguire AM, Steinbeck KS
J Adolesc Young Adult Oncol 2016 Dec;5(4):344-350. Epub 2016 May 19 doi: 10.1089/jayao.2016.0007. PMID: 27195593
Treating hypogonadism in younger males.
Yin A, Swerdloff R
Expert Opin Pharmacother 2010 Jun;11(9):1529-40. doi: 10.1517/14656561003742947. PMID: 20482304
Leukodystrophy in patients with ovarian dysgenesis.
Schiffmann R, Tedeschi G, Kinkel RP, Trapp BD, Frank JA, Kaneski CR, Brady RO, Barton NW, Nelson L, Yanovski JA
Ann Neurol 1997 May;41(5):654-61. doi: 10.1002/ana.410410515. PMID: 9153528
Endocrine dysfunction after total body irradiation and bone marrow transplantation.
Feyer P, Titlbach O, Hoffmann FA, Kubel M, Helbig W
Folia Haematol Int Mag Klin Morphol Blutforsch 1989;116(3-4):547-52. PMID: 2480306

Therapy

Treating hypogonadism in younger males.
Yin A, Swerdloff R
Expert Opin Pharmacother 2010 Jun;11(9):1529-40. doi: 10.1517/14656561003742947. PMID: 20482304
Andropause. Testosterone replacement therapy for aging men.
Bain J
Can Fam Physician 2001 Jan;47:91-7. PMID: 11212438Free PMC Article
Serum gonadotropins and testosterone in men occupationally exposed to carbon disulfide.
Wägar G, Tolonen M, Tanner P, Helpiö E
J Toxicol Environ Health 1983 Apr-Jun;11(4-6):691-701. doi: 10.1080/15287398309530377. PMID: 6413696
Cortisone-induced remission of hypothyroidism in Schmidt's syndrome.
Petersen HD, Bergman M
Acta Med Scand 1980;208(1-2):125-7. doi: 10.1111/j.0954-6820.1980.tb01164.x. PMID: 7435240
Primary gonadal insufficiency in a girl and a boy: metabolic effects of estrogen and testosterone.
PRUNTY FT, McSWINEY RR, CLAYTON BE
J Clin Endocrinol Metab 1953 Dec;13(12):1480-1501. doi: 10.1210/jcem-13-12-1480. PMID: 13117943

Prognosis

Primary Gonadal Insufficiency in Male and Female Childhood Cancer Survivors in a Long-Term Follow-Up Clinic.
Gunn HM, Rinne I, Emilsson H, Gabriel M, Maguire AM, Steinbeck KS
J Adolesc Young Adult Oncol 2016 Dec;5(4):344-350. Epub 2016 May 19 doi: 10.1089/jayao.2016.0007. PMID: 27195593
Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?
Carlsson G, Kriström B, Nordenskjöld M, Henter JI, Fadeel B
Acta Paediatr 2013 Jan;102(1):78-82. doi: 10.1111/apa.12050. PMID: 23050867
Endocrine dysfunction after total body irradiation and bone marrow transplantation.
Feyer P, Titlbach O, Hoffmann FA, Kubel M, Helbig W
Folia Haematol Int Mag Klin Morphol Blutforsch 1989;116(3-4):547-52. PMID: 2480306

Clinical prediction guides

Primary Gonadal Insufficiency in Male and Female Childhood Cancer Survivors in a Long-Term Follow-Up Clinic.
Gunn HM, Rinne I, Emilsson H, Gabriel M, Maguire AM, Steinbeck KS
J Adolesc Young Adult Oncol 2016 Dec;5(4):344-350. Epub 2016 May 19 doi: 10.1089/jayao.2016.0007. PMID: 27195593
Serum gonadotropins and testosterone in men occupationally exposed to carbon disulfide.
Wägar G, Tolonen M, Tanner P, Helpiö E
J Toxicol Environ Health 1983 Apr-Jun;11(4-6):691-701. doi: 10.1080/15287398309530377. PMID: 6413696

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