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Decreased circulating gonadotropin concentration

MedGen UID:
892842
Concept ID:
C4072887
Finding
Synonym: Decreased circulating gonadotropin level
 
HPO: HP:0030339

Definition

A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating gonadotropin concentration

Conditions with this feature

Hypogonadotropic hypogonadism 12 with or without anosmia
MedGen UID:
347328
Concept ID:
C1856897
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Ataxia-hypogonadism-choroidal dystrophy syndrome
MedGen UID:
347798
Concept ID:
C1859093
Disease or Syndrome
PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).

Professional guidelines

PubMed

Steinberg M
Clin Ther 2009;31 Pt 2:2312-31. doi: 10.1016/j.clinthera.2009.11.009. PMID: 20110043
Uemura H, Yasui T, Umino Y, Niki H, Takikawa M, Saito S, Furumoto H, Irahara M
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Huhtaniemi I, Venho P, Jacobi G, Rannikko S
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Recent clinical studies

Therapy

Bergamini M, Dalla Volta A, Palumbo C, Zamboni S, Triggiani L, Zamparini M, Laganà M, Rinaudo L, Di Meo N, Caramella I, Bresciani R, Valcamonico F, Borghetti P, Guerini A, Farina D, Antonelli A, Simeone C, Mazziotti G, Berruti A
Elife 2024 Apr 24;13 doi: 10.7554/eLife.92655. PMID: 38656229Free PMC Article
Marriott RJ, Murray K, Adams RJ, Antonio L, Ballantyne CM, Bauer DC, Bhasin S, Biggs ML, Cawthon PM, Couper DJ, Dobs AS, Flicker L, Handelsman DJ, Hankey GJ, Hannemann A, Haring R, Hsu B, Karlsson M, Martin SA, Matsumoto AM, Mellström D, Ohlsson C, O'Neill TW, Orwoll ES, Quartagno M, Shores MM, Steveling A, Tivesten Å, Travison TG, Vanderschueren D, Wittert GA, Wu FCW, Yeap BB
Ann Intern Med 2023 Sep;176(9):1221-1234. Epub 2023 Aug 29 doi: 10.7326/M23-0342. PMID: 37639720Free PMC Article
Albrethsen J, Østergren PB, Norup PB, Sønksen J, Fode M, Kistorp C, Nordsborg NB, Solheim SA, Mørkeberg J, Main KM, Juul A
J Clin Endocrinol Metab 2023 Oct 18;108(11):2834-2839. doi: 10.1210/clinem/dgad291. PMID: 37235781
Zitzmann M
Asian J Androl 2018 Mar-Apr;20(2):145-148. doi: 10.4103/aja.aja_2_18. PMID: 29384141Free PMC Article
Drobnis EZ, Nangia AK
Adv Exp Med Biol 2017;1034:25-28. doi: 10.1007/978-3-319-69535-8_4. PMID: 29256124

Prognosis

Franik G, Plinta R, Madej P, Owczarek A, Bozentowicz-Wikarek M, Chudek J, Skrzypulec-Plinta V, Olszanecka-Glinianowicz M
Ginekol Pol 2020;91(5):251-255. doi: 10.5603/GP.2020.0056. PMID: 32495930
Krysiak R, Kowalcze K, Okopień B
Am J Cardiol 2019 Oct 15;124(8):1207-1212. Epub 2019 Jul 23 doi: 10.1016/j.amjcard.2019.07.017. PMID: 31409451
Gougeon A
Rev Epidemiol Sante Publique 2005 Nov;53 Spec No 2:2S37-45. PMID: 16471143
Woolf PD
Crit Care Med 1992 Feb;20(2):216-26. doi: 10.1097/00003246-199202000-00011. PMID: 1737456
Van Loon GR
Fed Proc 1983 Oct;42(13):3012-8. PMID: 6413258

Clinical prediction guides

Bergamini M, Dalla Volta A, Palumbo C, Zamboni S, Triggiani L, Zamparini M, Laganà M, Rinaudo L, Di Meo N, Caramella I, Bresciani R, Valcamonico F, Borghetti P, Guerini A, Farina D, Antonelli A, Simeone C, Mazziotti G, Berruti A
Elife 2024 Apr 24;13 doi: 10.7554/eLife.92655. PMID: 38656229Free PMC Article
Franik G, Plinta R, Madej P, Owczarek A, Bozentowicz-Wikarek M, Chudek J, Skrzypulec-Plinta V, Olszanecka-Glinianowicz M
Ginekol Pol 2020;91(5):251-255. doi: 10.5603/GP.2020.0056. PMID: 32495930
Gohar J, Mazor M, Leiberman JR
Arch Gynecol Obstet 1996;259(1):1-6. doi: 10.1007/BF02505301. PMID: 8933922
Woolf PD
Crit Care Med 1992 Feb;20(2):216-26. doi: 10.1097/00003246-199202000-00011. PMID: 1737456
Parker LN
Endocrinol Metab Clin North Am 1991 Mar;20(1):71-83. PMID: 2029889

Recent systematic reviews

Escobar-Morreale HF, Santacruz E, Luque-Ramírez M, Botella Carretero JI
Hum Reprod Update 2017 Jul 1;23(4):390-408. doi: 10.1093/humupd/dmx012. PMID: 28486593

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