U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Nonsyndromic hypergonadotropic hypogonadism

MedGen UID:
852047
•Concept ID:
CN234670
•
Disease or Syndrome

Professional guidelines

PubMed

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F, Bouligand J, Trabado S, Francou B, Salenave S, Kamenicky P, Brailly-Tabard S, Chanson P, Guiochon-Mantel A, Young J
Eur J Endocrinol 2010 May;162(5):835-51. Epub 2010 Mar 5 doi: 10.1530/EJE-10-0083. PMID: 20207726

Recent clinical studies

Etiology

Primary ovarian insufficiency: update on clinical and genetic findings.
Federici S, Rossetti R, Moleri S, Munari EV, Frixou M, Bonomi M, Persani L
Front Endocrinol (Lausanne) 2024;15:1464803. Epub 2024 Sep 26 doi: 10.3389/fendo.2024.1464803. PMID: 39391877Free PMC Article
Associations between birth defects and childhood and adolescent germ cell tumors according to sex, histologic subtype, and site.
Schraw JM, Sok P, Desrosiers TA, Janitz AE, Langlois PH, Canfield MA, Frazier AL, Plon SE, Lupo PJ, Poynter JN
Cancer 2023 Oct 15;129(20):3300-3308. Epub 2023 Jun 27 doi: 10.1002/cncr.34906. PMID: 37366624Free PMC Article
GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty.
Mosbah H, Bouvattier C, Maione L, Trabado S, De Filippo G, Cartes A, Donzeau A, Chanson P, Brailly-Tabard S, Dwyer AA, Coutant R, Young J
Hum Reprod 2020 Oct 1;35(10):2312-2322. doi: 10.1093/humrep/deaa185. PMID: 32862222
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR
J Clin Endocrinol Metab 2019 Aug 1;104(8):3049-3067. doi: 10.1210/jc.2019-00248. PMID: 31042289Free PMC Article
Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.
Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzaléz R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Li J, Hakonarson H, Devoto M
Hum Reprod 2015 Oct;30(10):2439-51. Epub 2015 Jul 24 doi: 10.1093/humrep/dev180. PMID: 26209787Free PMC Article

Diagnosis

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.
Rey RA, Bergadá I, Ballerini MG, Braslavsky D, Chiesa A, Freire A, Grinspon RP, Keselman A, Arcari A
Rev Endocr Metab Disord 2024 Jun;25(3):555-573. Epub 2023 Dec 19 doi: 10.1007/s11154-023-09868-4. PMID: 38112850
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G, Sorgente A, Alfano M, Pipitone GB, Boeri L, Pozzi E, Belladelli F, Pederzoli F, Ferrara AM, Montorsi F, Moles A, Carrera P, Salonia A, Casari G
PLoS One 2023;18(8):e0288336. Epub 2023 Aug 4 doi: 10.1371/journal.pone.0288336. PMID: 37540677Free PMC Article
GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty.
Mosbah H, Bouvattier C, Maione L, Trabado S, De Filippo G, Cartes A, Donzeau A, Chanson P, Brailly-Tabard S, Dwyer AA, Coutant R, Young J
Hum Reprod 2020 Oct 1;35(10):2312-2322. doi: 10.1093/humrep/deaa185. PMID: 32862222
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR
J Clin Endocrinol Metab 2019 Aug 1;104(8):3049-3067. doi: 10.1210/jc.2019-00248. PMID: 31042289Free PMC Article
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F, Bouligand J, Trabado S, Francou B, Salenave S, Kamenicky P, Brailly-Tabard S, Chanson P, Guiochon-Mantel A, Young J
Eur J Endocrinol 2010 May;162(5):835-51. Epub 2010 Mar 5 doi: 10.1530/EJE-10-0083. PMID: 20207726

Therapy

Hypogonadotrophic hypogonadism associated with prelingual deafness due to a connexin 26 gene mutation.
Houang M, Gourmelen M, Moatti L, Le BY, Garabédian EN, Denoyelle F
J Pediatr Endocrinol Metab 2002 Feb;15(2):219-23. doi: 10.1515/jpem.2002.15.2.219. PMID: 11874189

Prognosis

The impact of early and successful orchidopexy on hormonal follow-up for 208 boys with bilateral non-syndromic cryptorchidism.
Hildorf S, Cortes D, Clasen-Linde E, Fossum M, Thorup J
Pediatr Surg Int 2021 Mar;37(3):339-345. Epub 2021 Jan 9 doi: 10.1007/s00383-020-04820-y. PMID: 33423103
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR
J Clin Endocrinol Metab 2019 Aug 1;104(8):3049-3067. doi: 10.1210/jc.2019-00248. PMID: 31042289Free PMC Article
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases.
Li X, Huang S, Yuan Y, Lu Y, Zhang D, Wang X, Yuan H, Han W, Dai P
Acta Otolaryngol 2019 Jun;139(6):479-486. Epub 2019 Apr 29 doi: 10.1080/00016489.2019.1603397. PMID: 31035849
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C
Ophthalmic Genet 2016 Sep;37(3):290-3. Epub 2016 Feb 8 doi: 10.3109/13816810.2015.1066830. PMID: 26854863
C-reactive protein levels in subjects with Prader-Willi syndrome and obesity.
Butler MG, Bittel DC, Kibiryeva N, Garg U
Genet Med 2006 Apr;8(4):243-8. doi: 10.1097/01.gim.0000204469.30913.67. PMID: 16617245Free PMC Article

Clinical prediction guides

Associations between birth defects and childhood and adolescent germ cell tumors according to sex, histologic subtype, and site.
Schraw JM, Sok P, Desrosiers TA, Janitz AE, Langlois PH, Canfield MA, Frazier AL, Plon SE, Lupo PJ, Poynter JN
Cancer 2023 Oct 15;129(20):3300-3308. Epub 2023 Jun 27 doi: 10.1002/cncr.34906. PMID: 37366624Free PMC Article
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Wang Q, Chen P, Liu J, Lou J, Liu Y, Yuan H
BMC Med Genomics 2020 May 7;13(1):66. doi: 10.1186/s12920-020-0728-8. PMID: 32381089Free PMC Article
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C
Ophthalmic Genet 2016 Sep;37(3):290-3. Epub 2016 Feb 8 doi: 10.3109/13816810.2015.1066830. PMID: 26854863
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
Young J, Bouligand J, Francou B, Raffin-Sanson ML, Gaillez S, Jeanpierre M, Grynberg M, Kamenicky P, Chanson P, Brailly-Tabard S, Guiochon-Mantel A
J Clin Endocrinol Metab 2010 May;95(5):2287-95. Epub 2010 Mar 1 doi: 10.1210/jc.2009-2600. PMID: 20194706
Adrenarche in Prader-Willi syndrome appears not related to insulin sensitivity and serum adiponectin.
Unanue N, Bazaes R, Iñiguez G, Cortés F, Avila A, Mericq V
Horm Res 2007;67(3):152-8. Epub 2006 Nov 2 doi: 10.1159/000096742. PMID: 17085944

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...