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.

• Inguinal Lymphadenopathy

  Although ultrasonography can be performed as part of the workup, it cannot distinguish between testis and inguinal lymphadenopathy. [symptoma.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. [nlm.nih.gov]

• Male Hypogonadism

  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]

  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]

  hypogonadism in recruits and soldiers]. 61 Tomov T...Ankov V 7010789 1980 152 [Hypothalamo-hypophyseal-thyroid axis in recruits and soldiers with male hypogonadism]. 61 Tomov T...Ankov V 6777988 1980 153 A gonadotrophin responsive testosterone producing [malacards.org]

  hypogonadism and infertility 9.1 Definitions and classification of disorders 9.2 Normal male endocrinology 9.2.1 The male gamete: spermatogenesis, maturation, function 9.2.2 Endocrine and local testicular regulation 9.2.3 Testicular hormones 9.3 Evaluation [oxfordmedicine.com]

• Inguinal Mass

  STUDY DESIGN: Patients were divided into two groups according to the absence (group A, n 29) or the presence (group B, n 26) of palpable intrascrotal or inguinal mass at first clinical examination. [ncbi.nlm.nih.gov]

  Physical examination may reveal microphallus or normal external male genitalia with bilateral or unilateral palpable intrascrotal or inguinal masses or no palpable masses. [symptoma.com]

  STUDY DESIGN Patients were divided into two groups according to the absence (group A, n 29) or the presence (group B, n 26) of palpable intrascrotal or inguinal mass at first clinical examination. [unboundmedicine.com]

  Study design Patients were divided into two groups according to the absence (group A, n 29) or the presence (group B, n 26) of palpable intrascrotal or inguinal mass at first clinical examination. [scinapse.io]

  Zenaty et al [7] reported palpable intrascrotal or inguinal masses at first examination in 26/55 (47%) patients included in a multicenter study. [journals.plos.org]

• Vietnamese

  Русский (Russian) ಕನ್ನಡ (Kannada) 한국어 (Korean) עברית (Hebrew) Український (Ukrainian) اردو (Urdu) Magyar (Hungarian) मानक हिन्दी (Hindi) Indonesia (Indonesian) Italiano (Italian) தமிழ் (Tamil) Türkçe (Turkish) తెలుగు (Telugu) ภาษาไทย (Thai) Tiếng Việt (Vietnamese [definitions.net]

• Burkina Faso

  Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegowina Botswana Bouvet Island Brazil British Indian Ocean Territory Brunei Darussalam Bulgaria Burkina [avatars.imvu.com]

• Testicular Disease

  disease 0 references male infertility due to gonadal dysgenesis 1 reference stated in Monarch Disease Ontology release 2018-06-29sonu retrieved 28 July 2018 MonDO ID MONDO:0017967 46,XY disorder of gonadal development 1 reference stated in Monarch Disease [wikidata.org]

  Cromie WJ: Cryptorchidism and malignant testicular disease, in Hadziselimovic F (ed): Cryptorchidism: Management and Implications. New Yeok, Springer-Verlag, 1983; 83. 228. [auanet.org]

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.

• Delayed Bone Age

  Eunochoidal body proportions, infantile type of male external genitalia with empty scrotum, underdeveloped sexual characteristics, and delayed bone age suggested the existence of inadequate testicular function. [ncbi.nlm.nih.gov]

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.