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.
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   . The congenital form has an incidence of one in twenty thousand  while an acquired form has been identified based on the presence of testicular tissue in the postnatal period but which disappears later . Anorchia has also been reported in one out of 175 cases with cryptorchidism . It is known to have a familial tendency    . 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 .
Most patients with anorchia present with normal male external sexual characteristics but may also present with microphallus , ambiguous external genitals , and feminine appearance of external genitalia . Cases of neonatal testicular torsion as a presenting symptom has been reported by various authors  . 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   along with low bone density.
Entire Body System
The association between varicoceles and infertility is controversial and a Cochrane Review concluded that there is insufficient evidence to support varicocele treatment for infertility. However, the field remains confused and contradictory. [oxfordindex.oup.com]
Complications of Male Infertility Treatments The primary complication of male infertility treatments is its psychological impact on the couples. The process of infertility treatments can be tedious and success rates can be quite low. [ehealthwall.com]
Findings also increase ability to study infertility, birth defects BY KRISTA CONGER Renee Reijo Pera Human embryonic stem cells derived from excess IVF embryos may help scientists unlock the mysteries of infertility for other couples struggling to conceive [hopeforanorchia.blogspot.com]
[…] congenital. 3 Idiopathic Infertility: In approximately 30% to 40% of men who are infertile, no male infertility factor can be identified. 3 These men frequently have no previous history of infertility, unremarkable physical examination, and normal endocrine [uspharmacist.com]
Androgen replacement therapy induces pubertal virilization (changes that make a male body different from a female body) and maintains in adult life. [fertilitypedia.org]
Several conditions may mimic congenital anorchia, the most common being virilization of a female fetus as a result of congenital adrenal hyperplasia, meternal androgen ingestion, or by maternal androgen secreting tumours. [onlinelibrary.wiley.com]
These include severe virilization of a female child, idiopathic pseudohermaphorditism, true hermaphroditism, and the male counterpart of Turner's syndrome. [jamanetwork.com]
In addition to virilization, fertility, and parenting queries stand prominent in dealing with an anorchid adult. [ijem.in]
This may cause virilization (the appearance of male physical characteristics in females). Also called arrhenoblastoma and Sertoli-Leydig cell tumor of the ovary. Source: NCI Dictionary of Cancer Terms 2005-01-24 Date last modified: 2006-09-28 [siteman.wustl.edu]
- 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]
Subsequent chapters deal with male sexual precocity; "fertile eunuchism" (Leydig cells reduced in number and size with preserved spermatogenesis); male idiopathic hypogonadism associated with idiopathic hypothyroidism, and with idiopathic renal tubular [books.google.com]
Gynecomastia How can you classify male hypogonadism into 3 types? memorize this 1. Primary ( hyper gonadotropic) hypogonadism (testicular failure) - increased LH, FSH and decreased Te 2. [quizlet.com]
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]
Anti-Müllerian hormone and sertoli cell function in paediatric male hypogonadism. Horm Res Paediatr. 2010; 73: 81–92 Crossref | PubMed | Scopus (90) | Google ScholarSee all References]. [jpurol.com]
Symptom s are pain and swelling. Diagnosis is primarily by examination and CT or pelvic MRI for deeper abscess es. Treatment is surgical drainage. An anorectal abscess is a collection of pus that builds up in the rectum and anus. [defineaz.com]
Sudden onset scrotal pain, swelling and they may have N/V How is torsion treated? And how quickly? It is treated with surgery. When taken into surgery between the first 5-6 hours the prognosis is 80-100% recovery. [quizlet.com]
[…] feels closer to skin than a part of deeper tissue Asymmetric breast enlargement Mastitis 0.8 to 1.1 Systemic signs of infection Fat necrosis 0.3 to 0.9 History of injury to the area may be present May be a local swelling, not over nipple areolar complex [aafp.org]
They include gum and mouth pain and irritation, headache, bitter taste, and gum swelling (edema). Patients should report persistent gum abnormalities to their physician. [urologyoffice.com]
Your child may have an infection if he has one or more of these signs: </p> <ul> <li>increased pain at the incision line </li> <li>a red incision line </li> <li>swelling or puffiness at the incision line </li> <li>liquid leaking from the incision line [aboutkidshealth.ca]
- Short Stature
Motor and language developmental delay, short stature, small hands and feet, emotional instability (perseveration, obsessions and compulsions), almond-shaped eyes, and triangular mouth are additional features. PWS occurs in 1:20,000 live births. [emedicine.medscape.com]
short children 7.2.7 Syndromic growth disorders 7.2.8 Tall stature 7.2.9 Delayed puberty and hypogonadism 7.2.10 Premature sexual maturation 7.3 Congenital adrenal hyperplasia in children 7.4 Late effects of cancer treatment 7.5 Transition in endocrinology [oxfordmedicine.com]
Short stature or other problems that form part of a dysmorphic syndrome, undescended testis, or a family history of hypospadias should trigger further investigation and possibly referral to an endocrinologist or geneticist. [pediatricurologybook.com]
Excess of Androgens in women causes hirsutism and signs of virilization; Testosterone level in serum has to be determined before and after ovarian and adrenal stimulation and supression to identify the source of excessive hormone production. [ibl-international.com]
8.1.4 Premenstrual syndrome 8.1.5 Primary ovarian failure 8.1.6 Disorders of gonadotropin secretion 8.1.7 Hyperprolactinaemic anovulation 8.1.8 Polycystic ovary syndrome: reproductive aspects 8.1.9 Polycystic ovary syndrome: metabolic aspects 8.1.10 Hirsutism [oxfordmedicine.com]
[…] female B1A3P3 ND Presence of Sertoli cells 0.33 8.7 11.2 LHCGR : c.1395G>A Homozygous p.Trp465X Patient 9 Normal female ND Absent Streak gonads 0.35 102 28 None - - Patient 10 Normal female B1P1 ND ND 0.38 135 42 None - - Patient 11 Clitoromegaly + Hirsutism [ncbi.nlm.nih.gov]
Fecal transplant is used to treat gut infections and is now being studied as a treatment for obesity, urinary tract infections, irritable bowel syndrome and more. [nytimes.com]
They include gum and mouth pain and irritation, headache, bitter taste, and gum swelling (edema). Patients should report persistent gum abnormalities to their physician. [urologyoffice.com]
Votre fils aura besoin de quelques heures pour se réveiller de l’opération, et pourra probablement retourner à la maison après, sans avoir à passer la nuit à l’hôpital. [aboutkidshealth.ca]
METHODS This study involved mutational analysis of NR5A1 in 24 individuals with bilateral anorchia and micropenis from the French Collaborative Anorchia study, as well as in vitro functional studies of SF1-dependent transcriptional activation and computer [ncbi.nlm.nih.gov]
Empty scrotum - anorchia; Scrotum - empty (anorchia) Achermann JC, Hughes IA. [nlm.nih.gov]
Cryptorchid boys had decreased SHBG levels after hCG, by 55 +/- 17% (mean +/- SE) of the basal concentration. Patients with anorchia, who did not show an elevation in serum androgens, did not have decreased SHBG concentrations. [ncbi.nlm.nih.gov]
Keywords: Bilateral anorchia, congenital anorchia, cryptorchidism, testicular regression syndrome How to cite this article: Mangaraj S, Choudhury AK, Mohanty BK, Baliarsinha AK. [journal-ina.com]
- Testicular Disease
From Wikidata Jump to navigation Jump to search human disease Testicular agenesis Bilateral anorchia edit Language Label Description Also known as English Anorchia human disease Testicular agenesis Bilateral anorchia Statements instance of disease 0 references [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 . Physical examination may reveal microphallus  or normal external male genitalia with bilateral or unilateral palpable intrascrotal   or inguinal masses  or no palpable masses .
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     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 .
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 .
Some authors have suggested surgical exploration for the testicular tissue as the most definitive method of diagnosis  especially in unilateral anorchia . However, others  suggest that surgery is unnecessary in the workup of bilateral anorchia if endocrine tests confirm the absence of functioning testicular tissue.
In most cases, testosterone treatment stimulates the penile growth. [ncbi.nlm.nih.gov]
Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 31(3), 361–367. [biblio.ugent.be]
Treatment includes: Artificial (prosthetic) testicle implants Male hormones (androgens) Psychological support Outlook (Prognosis) The outlook is good with treatment. [sites.magellanhealth.com]
Prognosis - Anorchia Prognosis is good with treatment. Treatment - Anorchia Treatment includes androgen (testosterone) supplementation to artificially initiate puberty, testicular prosthetic implantation, and psychological support. [checkorphan.org]
Expectations (prognosis) Prognosis is good with treatment. Complications Complications include infertility, psychological problems related to gender, and occasional face, neck, or back abnormalities. [health.am]
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 [indiatoday.in]
FSH and LH levels 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 Outlook (Prognosis [sites.magellanhealth.com]
Abstract Hypogonadism affecting the male pediatric population is uncommon, with that attributed to multiple unrelated etiologies being exceedingly rare. [ncbi.nlm.nih.gov]
Definition / general Anorchism: absence of both testis Monoorchidism: absence of one testis Testicular regression syndrome: phenotypically normal male with vas deferens is present Etiology Causes: cryptorchidism, possibly testicular infarct, infection [pathologyoutlines.com]
Disorders of sexual development: etiology, evaluation, and medical management. In: Wein AJ, Kavoussi LR, Partin AW, Peters CA, eds. Campbell-Walsh Urology. 11th ed. Philadelphia, PA: Elsevier; 2016:chap 150. Updated by: Sovrin M. [nlm.nih.gov]
[…] thyroid hormones 3.1.3 Clinical assessment of the thyroid patient 3.1.4 Thyroid function tests and the effects of drugs 3.1.5 Nonthyroidal illness 3.1.6 Thyroid imaging: nuclear medicine techniques 18.104.22.168 Thyroid imaging: nonisotopic techniques 3.1.7 Epidemiology [oxfordmedicine.com]
A short questionnaire for the measurement of habitual physical activity in epidemiological studies. Am J Clin Nutr 1982;36:936–42.CrossrefGoogle Scholar 6. Roelants M, Hauspie R, Hoppenbrouwers K. [degruyter.com]
Provided by 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. [assets.aarp.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]
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]
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]
Increased production of androgen precursors by the adrenal cortex may have prevented eunuchoidism without stimulating secondary sexual development. [jamanetwork.com]
Prevention - Anorchia Not supplied. Diagnosis - Anorchia Not supplied. Prognosis - Anorchia Prognosis is good with treatment. [checkorphan.org]
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]
It usually includes: Bracing Medication Physical therapy Preventing the condition from getting worse by treating the underlying condition causing the muscle weakness Surgery (sometimes) Your health care provider can tell you more about your condition [mclaren.org]
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]
- Abeyaratne MR, Aherne WA, Scott JES. The vanishing testis. Lancet. 1969;2: 822–824.
- Sarto GE, Opitz JM. The XY gonadal agenesis syndrome. J Med Genet. 1973; 10:288–293.
- Edman CD, Winters AJ, Porter JC, et al. Embryonic testicular regression. A clinical spectrum of XY agonadal individuals. Obstet Gynecol. 1977;49:208–217.
- Bobrow M, Gough MH. Bilateral absence of testes. Lancet. 1970;1: 366.
- Teo AQA, Khan AR, Williams MPL, et al. Is surgical exploration necessary in bilateral anorchia? Journal of Pediatric Urology. 2013; 9: e78-e81
- 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.
- Josso N, Briard ML. Embryonic testicular regression syndrome: variable phenotypic expression in siblings. J Pediatr.1980; 97: 200–204.
- Naffah J. Familial testicular regression syndrome. Bull Acad Natl Med. 1989;173:709–714.
- 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.
- Smith NM, Byard RW, Bourne AJ. Testicular regression syndrome-a pathological study of 77 cases. Histopathology 1991;19: 269–272.
- 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.
- Brauner R, Neve M, Allali S, et al. Clinical, Biological and Genetic Analysis of anorchia in 26 boys. PLoS One. 2011;6(8):e23292.
- 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
- Bernasconi S, Ghizzoni L, Panza C, Volta C, et al. Congenital anorchia: natural history and treatment. Horm.Res. 1992;37: 50-54.
- 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.
- 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
- 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
- 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
- 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.