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Abnormal spermatogenesis

MedGen UID:
488909
Concept ID:
C0520933
Finding; Finding; Finding
Synonym: Impaired spermatogenesis
SNOMED CT: Abnormal spermatogenesis (4529005)
 
HPO: HP:0008669

Definition

Incomplete maturation or aberrant formation of the male gametes. [from HPO]

Conditions with this feature

Ataxia-telangiectasia syndrome
MedGen UID:
439
Concept ID:
C0004135
Disease or Syndrome
Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.
Isolated lutropin deficiency
MedGen UID:
82881
Concept ID:
C0271582
Disease or Syndrome
Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012). Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see 147950. Reviews Arnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see 238320): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG; 118860) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.
Deafness-infertility syndrome
MedGen UID:
370197
Concept ID:
C1970187
Disease or Syndrome
CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. Males with NSMI have infertility while females have no symptoms. Males with DIS have both infertility and hearing loss, while females have only hearing loss. Routine semen analysis typically identifies abnormalities in sperm number, morphology, and motility. Otologic examination and audiologic assessment can identify hearing loss.

Professional guidelines

PubMed

Zorn B, Virant-Klun I, Stanovnik M, Drobnic S, Meden-Vrtovec H
Int J Androl 2006 Oct;29(5):521-7. Epub 2006 Mar 8 doi: 10.1111/j.1365-2605.2006.00684.x. PMID: 16524365

Recent clinical studies

Etiology

Zhou Y, Zhong X, Chen L, Gong L, Luo L, He Q, Zhu L, Tian K
Ecotoxicol Environ Saf 2023 Nov 15;267:115626. Epub 2023 Oct 25 doi: 10.1016/j.ecoenv.2023.115626. PMID: 37890247
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Ferreira C, Sousa M, Rabaça A, Oliveira PF, Alves MG, Sá R
Curr Pharm Des 2015;21(25):3621-33. doi: 10.2174/1381612821666150710150041. PMID: 26166607
Carrell DT
Fertil Steril 2012 Feb;97(2):267-74. doi: 10.1016/j.fertnstert.2011.12.036. PMID: 22289286
Hudson RW
Fertil Steril 1988 Feb;49(2):199-208. doi: 10.1016/s0015-0282(16)59700-3. PMID: 3276560

Diagnosis

Zańko A, Siewko K, Krętowski AJ, Milewski R
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Qiu Y, Yang H, Li C, Xu C
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Casey JT, Misseri R
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Kitamura A, Miyauchi N, Hamada H, Hiura H, Chiba H, Okae H, Sato A, John RM, Arima T
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Curr Pharm Des 2015;21(25):3621-33. doi: 10.2174/1381612821666150710150041. PMID: 26166607

Therapy

Lo JO, Hedges JC, Girardi G
Am J Obstet Gynecol 2022 Oct;227(4):571-581. Epub 2022 May 31 doi: 10.1016/j.ajog.2022.05.056. PMID: 35662548Free PMC Article
Jiang D, Coscione A, Li L, Zeng BY
Int Rev Neurobiol 2017;135:297-311. Epub 2017 Apr 12 doi: 10.1016/bs.irn.2017.02.014. PMID: 28807164
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Kuo TM, Luo SY, Chiang SL, Lee CP, Liu YF, Chang JG, Tsai MH, Ko YC
J Biomed Sci 2014 Sep 9;21(1):93. doi: 10.1186/s12929-014-0093-z. PMID: 25200553Free PMC Article
Hudson RW
Fertil Steril 1988 Feb;49(2):199-208. doi: 10.1016/s0015-0282(16)59700-3. PMID: 3276560

Prognosis

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Pietzak EJ 3rd, Tasian GE, Tasian SK, Brinster RL, Carlson C, Ginsberg JP, Kolon TF
J Urol 2015 Nov;194(5):1420-4. Epub 2015 May 30 doi: 10.1016/j.juro.2015.04.117. PMID: 26032139Free PMC Article
Babaei Jandaghi A, Moradi H, Hamidi Madani A, Nasseh H, Keshavarz Zirak A, Pourghorban R
Eur Radiol 2014 Sep;24(9):2245-51. Epub 2014 May 24 doi: 10.1007/s00330-014-3218-6. PMID: 24852814
Gordetsky J, van Wijngaarden E, O'Brien J
BJU Int 2012 Aug;110(4):568-72. Epub 2011 Dec 16 doi: 10.1111/j.1464-410X.2011.10783.x. PMID: 22177092

Clinical prediction guides

AbuMadighem A, Cohen O, Huleihel M
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Zhong D, Zhang L, Huang K, Chen M, Chen Y, Liu Q, Shi D, Li H
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Sun W, Tian F, Pan H, Chang X, Xia M, Hu J, Wang Y, Li R, Li W, Yang M, Zhou Z
Ecotoxicol Environ Saf 2022 Nov;246:114163. Epub 2022 Oct 11 doi: 10.1016/j.ecoenv.2022.114163. PMID: 36240522
Ghasemi H, Khodadadi I, Fattahi A, Moghimbeigi A, Tavilani H
Syst Biol Reprod Med 2017 Dec;63(6):382-390. Epub 2017 Oct 9 doi: 10.1080/19396368.2017.1374488. PMID: 28991497
Amann RP
J Androl 2009 Nov-Dec;30(6):626-41. Epub 2009 May 14 doi: 10.2164/jandrol.108.006817. PMID: 19443909

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