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Anorchia

Anorchism

Anorchia or vanishing testis syndrome is a rare condition characterized by the complete absence of one or both testes in a phenotypical male. Clinical examination can be inconclusive and specific hormonal studies are required to confirm the diagnosis.


Presentation

Anorchia, also known as embryonic testicular regression is characterized by the unilateral or bilateral absence of functioning testicular tissue in an individual who has 46, XY karyotype and is phenotypically male [1] [2] [3]. The congenital form has an incidence of one in twenty thousand [4] while an acquired form has been identified based on the presence of testicular tissue in the postnatal period but which disappears later [5]. Anorchia has also been reported in one out of 175 cases with cryptorchidism [6]. It is known to have a familial tendency [1] [4] [7] [8]. The etiology of the condition is still being debated with several proposed theories ranging from genetic to 46, XY abnormal gonads [9] to vascular occlusion during embryonic testicular descent [10].

Most patients with anorchia present with normal male external sexual characteristics but may also present with microphallus [11], ambiguous external genitals [7], and feminine appearance of external genitalia [12]. Cases of neonatal testicular torsion as a presenting symptom has been reported by various authors [11] [12]. Individuals with bilateral anorchia typically develop normally but the onset of puberty is either delayed or absent depending on the extent of functioning testicular tissue in the body. Therefore secondary sexual characteristics may develop partially or not at all. Other organ anomalies like renal ectopia can also be present in these individuals [12] [13] along with low bone density.

Male Hypogonadism
  • Discussions on the current methods for the diagnosis and treatment of male hypogonadism, male infertility and male sexual dysfunction follow, with detailed descriptions of types of androgen replacement and the benefits and risks of such treatment.[books.google.ro]
  • This is followed by studies on the temporal variation of testosterone and plasma gonadotrophins in man; interactions between steroids and gonadotropins; gonadotrophins and plasma testosterone in senescence; androgen secretion in male hypogonadism; and[books.google.com]
  • J Clin Endocrinol Metab 81:1367–1370 PubMed CrossRef Google Scholar Gromoll J, Eiholzer U, Nieschlag E, Simoni M (2000) Male hypogonadism caused by a homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: Differential action of human[link.springer.com]
Pediatric Disorder
  • Pediatric disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology . 13th ed. Philadelphia, PA: Elsevier; 2016:chap 23. Ali O, Donohoue PA. Hypofunction of the testes.[medlineplus.gov]
Testicular Disease
  • Cromie WJ: Cryptorchidism and malignant testicular disease, in Hadziselimovic F (ed): Cryptorchidism: Management and Implications. New Yeok, Springer-Verlag, 1983; 83. 228.[auanet.org]

Workup

A clinician should suspect anorchia if a patient presents with complaints of delayed puberty and has masculine external genitals but no palpable testes. A thorough family history must be elicited as other family members are also likely to have complete or partial gonadal abnormalities with 46, XY karyotype [12]. Physical examination may reveal microphallus [14] or normal external male genitalia with bilateral or unilateral palpable intrascrotal [11] [12] or inguinal masses [11] or no palpable masses [12].

Confirmation of the diagnosis requires hormonal evaluation such as gonadotrophin-releasing hormone (GnRH), follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone, inhibin B levels and provocation test with human chorionic gonadotrophin (hCG). In bilateral anorchia, low levels of testosterone along with elevated FSH levels and an absence of a rise in levels of testosterone after hCG [14] [15] [16] [17] is noticed. hCG provocation test is not required in 46, XY patients with elevated FSH and undetectable levels of anti-müllerian (AMH) and inhibin B as this scenario is diagnostic for anorchia [12].

Although ultrasonography can be performed as part of the workup, it cannot distinguish between testis and inguinal lymphadenopathy. Magnetic resonance imaging (MRI) is more useful for detecting testicular tissue especially if cryptorchidism is suspected. But imaging studies may not be required if hCG provocation fails to cause a rise in plasma testosterone levels [18].

Some authors have suggested surgical exploration for the testicular tissue as the most definitive method of diagnosis [19] especially in unilateral anorchia [17]. However, others [5] suggest that surgery is unnecessary in the workup of bilateral anorchia if endocrine tests confirm the absence of functioning testicular tissue.

Treatment

  • In most cases, testosterone treatment stimulates the penile growth.[ncbi.nlm.nih.gov]
  • This paper discusses the definition, pathogenesis, diagnosis and treatment of congenital anorchia.[ncbi.nlm.nih.gov]
  • (August 2017) Treatment [ edit ] Treatment includes androgen (testosterone) supplementation to artificially initiate puberty, testicular prosthetic implantation, and psychological support.[en.wikipedia.org]
  • Title A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with klinefelter syndrome or anorchia Abstract PURPOSE: To assess the safety and clinical outcomes of 6-month treatment with testosterone[scholarlycommons.libraryinfo.bhs.org]
  • Some patients may opt to wait for treatment or to forgo treatment, a choice they can discuss with their doctors.[wisegeek.com]

Prognosis

  • Bone density Surgery to look for male reproductive tissue Testosterone levels (low) Ultrasound or MRI X,Y karyotype Treatment Treatment includes: Artificial (prosthetic) testicle implants Male hormones (androgens) Psychological support Expectations (prognosis[coordinatedhealth.com]
  • PROGNOSI : Le prospettive di guarigione sono buone con il trattamento. Possibili complicazioni includono: Anomalie del viso, collo, schiena (occasionalmente); Infertilità; Problemi psicologici a causa della confusione di genere.[medicinalive.com]
  • […] levels Surgery to look for male reproductive tissue Testosterone levels (low) Ultrasound or MRI X,Y karyotype Treatment Return to top Treatment includes: Artificial (prosthetic) testicle implants Male hormones (androgens) Psychological support Outlook (Prognosis[pacificschoolserver.org]
  • […] for male reproductive tissue Testosterone levels (low) Ultrasound or MRI to look for testes in the abdomen XY karyotype Treatment Treatment includes: Artificial (prosthetic) testicle implants Male hormones (androgens) Psychological support Outlook (Prognosis[leehealth.org]

Etiology

  • Hypogonadism affecting the male pediatric population is uncommon, with that attributed to multiple unrelated etiologies being exceedingly rare.[ncbi.nlm.nih.gov]
  • The etiology is unknown; however, the familial occurrence of the disease and the association of this phenotype with 46,XY gonadal dysgenesis has led to the suggestion that genetic factors, which play a role in testicular determination, may be involved[ncbi.nlm.nih.gov]
  • The occurrence of complete anorchia in only one of otherwise identical twins constitutes relevant new data for considering the etiology of this rare condition and in assaying the role of the testis in growth and development between birth and puberty.[ncbi.nlm.nih.gov]
  • The etiology of the condition is still being debated with several proposed theories ranging from genetic to 46, XY abnormal gonads to vascular occlusion during embryonic testicular descent.[symptoma.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]

Epidemiology

  • Epidemiology [ 4 ] Undescended testis is the most common birth defect among boys. [ 3 ] Undescended testes affects 1-6% of males. . There is a higher incidence in premature babies (up to 30%).[patient.info]
  • Epidemiology Prevalence/incidence of congenital v. acquired cryptorchidism.[auanet.org]
  • Urban and Schwarzenberg, Munich, pp 454–455 Google Scholar Buetow SA (1995) Epidemiology of testicular cancer.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • Images Review Date: 9/7/2008 Reviewed By: Linda Vorvick, MD, Seattle Site Coordinator, Lecturer, Pathophysiology, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine; and Louis S.[lutheranhealthcare.org]
  • Update Date: 9/7/2008 Updated by: Linda Vorvick, MD, Seattle Site Coordinator, Lecturer, Pathophysiology, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine; and Louis S.[pacificschoolserver.org]
  • Pathophysiology Diminished functional activity of the gonads reduced biosynthesis of sex hormones impaired secondary sexual characteristics and infertility Clinical features Diagnostics Treatment[amboss.com]
  • If the vascular insult occur after 14 to 16 weeks Usually The external genitalia are normal. 16 pathophysiology 17.[slideshare.net]
  • Pathophysiology The onset of puberty is controlled by several factors. [4] A nocturnal increase in the amplitude and pulsatility of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus is the first change evident at puberty. [23] Hypothalamic[online.epocrates.com]

Prevention

  • Among her publications on health sociology are "Crisis Prevention and Management during SARS Outbreak, Singapore", Emerging Infectious Diseases, 10, 2: 364-368, 2004, with HP Lee; "Traditional Healing Systems and the Ethos of Science," Social Science[books.google.ro]
  • Research output : Contribution to journal › Article › Research › peer-review Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone Heland, S., Hewitt, J. K. , McGillivray, G. & Walker, S.[research.monash.edu]
  • VASECTOMY Men who previously had a vasectomy (an operation to make him sterile and prevent pregnancy) can experience what is called obstructive azoospermia. VARICOCELE A varicocele is a swollen vein on a man’s scrotum.[corkfertilitycentre.com]
  • Undescended testes usually descend into the scrotum during the first months after birth; if the testicle fails to descend into the scrotum, a surgical replacement or removal is necessary in order to relocate or remove the testicle and prevent a transformation[drelist.com]

References

Article

  1. Abeyaratne MR, Aherne WA, Scott JES. The vanishing testis. Lancet. 1969;2: 822–824.
  2. Sarto GE, Opitz JM. The XY gonadal agenesis syndrome. J Med Genet. 1973; 10:288–293.
  3. Edman CD, Winters AJ, Porter JC, et al. Embryonic testicular regression. A clinical spectrum of XY agonadal individuals. Obstet Gynecol. 1977;49:208–217.
  4. Bobrow M, Gough MH. Bilateral absence of testes. Lancet. 1970;1: 366.
  5. Teo AQA, Khan AR, Williams MPL, et al. Is surgical exploration necessary in bilateral anorchia? Journal of Pediatric Urology. 2013; 9: e78-e81
  6. Aynsley-Green A, Zachmann M, Illig R, et al. Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases. Clin Endocrinol. (Oxf).1976;5:381–391.
  7. Josso N, Briard ML. Embryonic testicular regression syndrome: variable phenotypic expression in siblings. J Pediatr.1980; 97: 200–204.
  8. Naffah J. Familial testicular regression syndrome. Bull Acad Natl Med. 1989;173:709–714.
  9. Marcantonio SM, Fechner PY, Migeon CJ, et al. Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis. Am J Med Genet 1994;49: 1–5.
  10. Smith NM, Byard RW, Bourne AJ. Testicular regression syndrome-a pathological study of 77 cases. Histopathology 1991;19: 269–272.
  11. Zenaty D, Dijoud F, Morel Y, et al. Bilateral anorchia in infancy: occurrence of microphallus and the effect of testosterone treatment. J Pediatr. 2006;149: 687–691.
  12. Brauner R, Neve M, Allali S, et al. Clinical, Biological and Genetic Analysis of anorchia in 26 boys. PLoS One. 2011;6(8):e23292.
  13. Lodh B, Kanwar V, Kaku Singh AK, Singh SR. Unfused crossed renal ectopia with ipsilateral anorchia- a rare entity. J. Clin. Diagn Res. 2013 Sep; 7(9): 2029-2030
  14. Bernasconi S, Ghizzoni L, Panza C, Volta C, et al. Congenital anorchia: natural history and treatment. Horm.Res. 1992;37: 50-54.
  15. Bablok L, Janczewski Z, Czaplicki M, Kwiatkowska Z.Plasma testosterone levels before and after stimulation with HCG in anorchism. Int Urol Nephrol. 1979;11: 57-60.
  16. Jarow NP, Berkowitz GD, Migeon CJ, et al. Elevation of serum gonadotropins establishes the diagnosis of anorchism in prepubertal boys with bilateral cryptorchidism. J Urol. 1986;136: 277- 279
  17. De Rosa M, Lupoli G, Mennitti M, Zarrilli S, et al. Congenital bilateral anorchia: clinical, hormonal and imaging study in 12 cases. Andrologica. 1996; 28 (5): 281-285
  18. Rousso I, Illiopoulos F, Athanasiadou F, et al. Congenital bilateral anorchia: hormonal, molecular and imaging study of a case. Genetics and Molecular Research.642 Genetics and Molecular Research.2006 Oct 31;5(4):638-42
  19. Belgorosky A, Rivarola MA. Sex hormone-binding globulin response to human chorionic gonadotropin stimulation in children with cryptorchidism, anorchia, male pseudohermaphroditism, and micropenis. J Clin Endocrinol Metab. 1982;54: 698-704.

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Last updated: 2017-08-09 18:08