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Testicular atrophy

MedGen UID:
57626
Concept ID:
C0156312
Disease or Syndrome
Synonyms: Atrophic testicle; Atrophy of testis; atrophy of testis; Testicular Atrophy; testicular atrophy; Testicular degeneration
SNOMED CT: Atrophy of testis (17585008); Testicular atrophy (17585008); Atrophic testicle (17585008)
 
HPO: HP:0000029
Monarch Initiative: MONDO:0001415

Definition

Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. [from HPO]

Conditions with this feature

Lesch-Nyhan syndrome
MedGen UID:
9721
Concept ID:
C0023374
Disease or Syndrome
HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) and varying degrees of neurologic and/or behavioral problems. Historically, three phenotypes were identified in the spectrum of HPRT1 disorders: Lesch-Nyhan disease (LND) at the most severe end with motor dysfunction resembling severe cerebral palsy, intellectual disability, and self-injurious behavior; HPRT1-related neurologic dysfunction (HND) in the intermediate range with similar but fewer severe neurologic findings than LND and no self-injurious behavior; and HPRT1-related hyperuricemia (HRH) at the mild end without overt neurologic deficits. It is now recognized that these neurobehavioral phenotypes cluster along a continuum from severe to mild.
Male hypogonadism
MedGen UID:
57480
Concept ID:
C0151721
Disease or Syndrome
Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).
Aarskog syndrome
MedGen UID:
61234
Concept ID:
C0175701
Disease or Syndrome
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract). This condition mainly affects males, although females may have mild features of the syndrome.\n\nPeople with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Affected individuals can also have wide, flat feet with broad, rounded toes. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).\n\nMost males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).\n\nThe intellectual development of people with Aarskog-Scott syndrome varies widely. Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported.
Hypogonadotropic hypogonadism 1 with or without anosmia
MedGen UID:
295872
Concept ID:
C1563719
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.
Diaphragmatic defect-limb deficiency-skull defect syndrome
MedGen UID:
371377
Concept ID:
C1832668
Disease or Syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
MedGen UID:
371919
Concept ID:
C1834846
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Kennedy disease
MedGen UID:
333282
Concept ID:
C1839259
Disease or Syndrome
Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations. SBMA occurs only in males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity.
Spermatogenic failure, X-linked, 2
MedGen UID:
374322
Concept ID:
C1839841
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.
Kallmann syndrome with spastic paraplegia
MedGen UID:
333437
Concept ID:
C1839911
Disease or Syndrome
Spinocerebellar ataxia type 32
MedGen UID:
462693
Concept ID:
C3151343
Disease or Syndrome
Spinocerebellar ataxia-32 (SCA32) is an autosomal dominant neurologic disorder characterized by ataxia, variable mental impairment, and azoospermia in males (summary by Jiang et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Dyskeratosis congenita, autosomal recessive 2
MedGen UID:
462791
Concept ID:
C3151441
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Steinert myotonic dystrophy syndrome
MedGen UID:
886881
Concept ID:
C3250443
Disease or Syndrome
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.
Hemochromatosis type 1
MedGen UID:
854011
Concept ID:
C3469186
Disease or Syndrome
HFE hemochromatosis is characterized by inappropriately high absorption of iron by the small intestinal mucosa. The phenotypic spectrum of HFE hemochromatosis includes: Persons with clinical HFE hemochromatosis, in whom manifestations of end-organ damage secondary to iron overload are present; Individuals with biochemical HFE hemochromatosis, in whom transferrin-iron saturation is increased and the only evidence of iron overload is increased serum ferritin concentration; and Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE hemochromatosis nor iron overload are present. Clinical HFE hemochromatosis is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and anterior pituitary gland. In untreated individuals, early symptoms include: abdominal pain, weakness, lethargy, weight loss, arthralgias, diabetes mellitus; and increased risk of cirrhosis when the serum ferritin is higher than 1,000 ng/mL. Other findings may include progressive increase in skin pigmentation, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE hemochromatosis is more common in men than women.
Wolfram syndrome 1
MedGen UID:
1641635
Concept ID:
C4551693
Disease or Syndrome
WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony). Although DM is mostly insulin-dependent, overall the course is milder (with lower prevalence of microvascular disease) than that seen in isolated DM. OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment.
Bone marrow failure syndrome 5
MedGen UID:
1648380
Concept ID:
C4748488
Disease or Syndrome
Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures (summary by Toki et al., 2018) For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).

Professional guidelines

PubMed

Kanakis GA, Nordkap L, Bang AK, Calogero AE, Bártfai G, Corona G, Forti G, Toppari J, Goulis DG, Jørgensen N
Andrology 2019 Nov;7(6):778-793. Epub 2019 May 16 doi: 10.1111/andr.12636. PMID: 31099174
Hadziselimovic F
Urol Int 2016;96(3):249-54. Epub 2016 Jan 30 doi: 10.1159/000443741. PMID: 26824668
Rahnema CD, Lipshultz LI, Crosnoe LE, Kovac JR, Kim ED
Fertil Steril 2014 May;101(5):1271-9. Epub 2014 Mar 14 doi: 10.1016/j.fertnstert.2014.02.002. PMID: 24636400

Recent clinical studies

Etiology

Luther PM, Spillers NJ, Talbot NC, Sinnathamby ES, Ellison D, Kelkar RA, Ahmadzadeh S, Shekoohi S, Kaye AD
Expert Opin Pharmacother 2024 Jan-Apr;25(1):25-35. Epub 2024 Feb 1 doi: 10.1080/14656566.2024.2306832. PMID: 38229462
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
He M, Li M, Zhang W
Andrologia 2020 Feb;52(1):e13477. Epub 2019 Nov 12 doi: 10.1111/and.13477. PMID: 31713875
Hadziselimovic F
Urol Int 2016;96(3):249-54. Epub 2016 Jan 30 doi: 10.1159/000443741. PMID: 26824668
Ilic D, Misso ML
Cochrane Database Syst Rev 2011 Feb 16;(2):CD007853. doi: 10.1002/14651858.CD007853.pub2. PMID: 21328302

Diagnosis

Yeap E, Pacilli M, Nataraja RM
Aust J Gen Pract 2020 Jan-Feb;49(1-2):38-43. doi: 10.31128/AJGP-08-19-5037. PMID: 32008266
Kanakis GA, Nordkap L, Bang AK, Calogero AE, Bártfai G, Corona G, Forti G, Toppari J, Goulis DG, Jørgensen N
Andrology 2019 Nov;7(6):778-793. Epub 2019 May 16 doi: 10.1111/andr.12636. PMID: 31099174
Casey JT, Misseri R
Endocrinol Metab Clin North Am 2015 Dec;44(4):835-42. Epub 2015 Aug 24 doi: 10.1016/j.ecl.2015.07.007. PMID: 26568496
Rahnema CD, Lipshultz LI, Crosnoe LE, Kovac JR, Kim ED
Fertil Steril 2014 May;101(5):1271-9. Epub 2014 Mar 14 doi: 10.1016/j.fertnstert.2014.02.002. PMID: 24636400
Ilic D, Misso ML
Cochrane Database Syst Rev 2011 Feb 16;(2):CD007853. doi: 10.1002/14651858.CD007853.pub2. PMID: 21328302

Therapy

Esposito M, Salerno M, Calvano G, Agliozzo R, Ficarra V, Sessa F, Favilla V, Cimino S, Pomara C
Panminerva Med 2023 Mar;65(1):43-50. Epub 2022 Feb 11 doi: 10.23736/S0031-0808.22.04677-8. PMID: 35146992
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
Kanakis GA, Nordkap L, Bang AK, Calogero AE, Bártfai G, Corona G, Forti G, Toppari J, Goulis DG, Jørgensen N
Andrology 2019 Nov;7(6):778-793. Epub 2019 May 16 doi: 10.1111/andr.12636. PMID: 31099174
Payne KS, Mazur DJ, Hotaling JM, Pastuszak AW
J Urol 2019 Oct;202(4):674-681. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000248. PMID: 30916627Free PMC Article
Rahnema CD, Lipshultz LI, Crosnoe LE, Kovac JR, Kim ED
Fertil Steril 2014 May;101(5):1271-9. Epub 2014 Mar 14 doi: 10.1016/j.fertnstert.2014.02.002. PMID: 24636400

Prognosis

Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Selvaraj K, Ravichandran S, Krishnan S, Radhakrishnan RK, Manickam N, Kandasamy M
Reprod Sci 2021 Oct;28(10):2735-2742. Epub 2021 Jan 7 doi: 10.1007/s43032-020-00441-x. PMID: 33415647Free PMC Article
Wang Z, Wang D, Dai Y, Zhu S, Zeng H
J Urol 2021 Mar;205(3):671-677. Epub 2020 Oct 7 doi: 10.1097/JU.0000000000001400. PMID: 33026922
He M, Li M, Zhang W
Andrologia 2020 Feb;52(1):e13477. Epub 2019 Nov 12 doi: 10.1111/and.13477. PMID: 31713875
Grüngreiff K, Reinhold D, Wedemeyer H
Ann Hepatol 2016 Jan-Feb;15(1):7-16. doi: 10.5604/16652681.1184191. PMID: 26626635

Clinical prediction guides

Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Cho PS, Yu RN, Paltiel HJ, Migliozzi MA, Li X, Venna A, Diamond DA
Asian J Androl 2021 Nov-Dec;23(6):611-615. doi: 10.4103/aja.aja_22_21. PMID: 33885004Free PMC Article
He M, Li M, Zhang W
Andrologia 2020 Feb;52(1):e13477. Epub 2019 Nov 12 doi: 10.1111/and.13477. PMID: 31713875
Gunawan H, Achdiat PA, Rahardjo RM, Hindritiani R, Suwarsa O
Int J Infect Dis 2020 Jan;90:60-64. Epub 2019 Oct 18 doi: 10.1016/j.ijid.2019.10.013. PMID: 31634613
Christou MA, Tigas S
Curr Opin Endocrinol Diabetes Obes 2018 Jun;25(3):195-200. doi: 10.1097/MED.0000000000000406. PMID: 29389675

Recent systematic reviews

Esposito M, Salerno M, Calvano G, Agliozzo R, Ficarra V, Sessa F, Favilla V, Cimino S, Pomara C
Panminerva Med 2023 Mar;65(1):43-50. Epub 2022 Feb 11 doi: 10.23736/S0031-0808.22.04677-8. PMID: 35146992
Ceccanti S, Migliara G, De Vito C, Cozzi DA
J Pediatr Surg 2022 Jul;57(7):1414-1422. Epub 2021 Jul 13 doi: 10.1016/j.jpedsurg.2021.07.006. PMID: 34344532
Moore SL, Chebbout R, Cumberbatch M, Bondad J, Forster L, Hendry J, Lamb B, MacLennan S, Nambiar A, Shah TT, Stavrinides V, Thurtle D, Pearce I, Kasivisvanathan V
Eur Urol Focus 2021 Nov;7(6):1493-1503. Epub 2020 Aug 27 doi: 10.1016/j.euf.2020.07.006. PMID: 32863201
Payne KS, Mazur DJ, Hotaling JM, Pastuszak AW
J Urol 2019 Oct;202(4):674-681. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000248. PMID: 30916627Free PMC Article
Ilic D, Misso ML
Cochrane Database Syst Rev 2011 Feb 16;(2):CD007853. doi: 10.1002/14651858.CD007853.pub2. PMID: 21328302

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