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Testicular Regression Syndrome

TRS


Presentation

  • However, in others, it remains impalpable in an abnormal position or there may only be a small abnormal testicular remnant present.[ncbi.nlm.nih.gov]
  • Instead, scattered foci of calcification and brown pigment were present.[ncbi.nlm.nih.gov]
  • A spectrum of pathological findings may be present but there is little literature systematically examining these features.[ncbi.nlm.nih.gov]
  • The patient was an 18 year old girl presenting with primary amenorrhoea. Physical examination revealed normal female external genitalia and underdeveloped secondary sexual characteristics. Hormonal profile indicated gonadal failure.[ncbi.nlm.nih.gov]
  • The 46,XY individuals, who were raised as females, presented varying degrees of genital ambiguity, indicating that their gonadal activities had been arrested at different times during embryogenesis.[ncbi.nlm.nih.gov]
Pathologist
  • CONCLUSION: A urologic and pediatric surgical problem, TRS may be unrecognized by many practicing pathologists.[ncbi.nlm.nih.gov]
  • The Color Atlas of Pediatric Pathology is a practical working resource for every pathologist who sees pediatric cases as well as the pathology trainee.[books.google.com]
  • It is an essential reference for all pathologists, and an important review aid for GYN residents preparing for their Boards.[books.google.de]
  • The pathologist may play a pivotal role in the management of these patients.[ispub.com]
Primary Amenorrhea
  • A 16-year-old female adolescent presented with primary amenorrhea. Evaluation revealed female external genitalia, XY karyotype, absent gonadal tissue, and rudimentary Müllerian structures.[ncbi.nlm.nih.gov]
  • Case: A 16-year-old female adolescent presented with primary amenorrhea. Evaluation revealed female external genitalia, XY karyotype, absent gonadal tissue, and rudimentary Müllerian structures.[uncch.pure.elsevier.com]
  • ( 27570094 ) Nataraja R.M....Murphy F.L. 2016 5 Embryonic testicular regression syndrome presenting as primary amenorrhea: a case report and review of disorders of sexual development. ( 27079915 ) Hunter J.D....Howell J.O. 2016 6 Is routine excision of[malacards.org]
Meningism
  • Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere.[books.google.com]

Treatment

  • According to his medical records, micropenis and bilateral cryptorchidism were present at birth, and neither hormonal treatments nor bilateral orchidopexy could enlarge his penis size.[ncbi.nlm.nih.gov]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Management and treatment Management of patients requires a multi-disciplinary team. Psychological evaluation and counseling of parents is necessary.[orpha.net]
  • You can help by adding to it . ( August 2017 ) Treatment [ edit ] Treatment includes androgen (testosterone) supplementation to artificially initiate puberty, testicular prosthetic implantation, and psychological support.[en.wikipedia.org]

Prognosis

  • (Outcome/Resolutions) The prognosis of Caudal Regression Syndrome is based on the severity of the signs and symptoms, with mild cases having better prognosis than severe cases However, in general, the prognosis is considered to be poor, with death resulting[dovemed.com]
  • The absence of a 45,X lineage is of importance for the management and prognosis. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging and if a familial background exists.[orpha.net]
  • Prognosis The medical and psychological prognosis for a woman with androgen insensitivity syndrome is excellent if she has appropriate support and counseling.[emedicine.medscape.com]
  • Cryptorchidism : Diagnosis, treatment and prognosis 2010;37:183-93. 7. Shaikh A. Family therapy in diabetes mellitus. Indian Journalof Endocrinology and Metabolism 2013; (In Press).[ijem.in]
  • References Albers N, Ulrichs C, Gluer S, Hiort O, Sinnecker G.H.G, Mildenberger H,Brodehl J, Etiologic classification of severe hypospadias: Implications for prognosis and managment, The Journal of Pediatrics, Vol. 131 (3),1997, pp. 386-392 Berthezene[aissga.org.au]

Etiology

  • These findings suggest the role of remote vascular compromise in the etiology of this entity.[basicmedicalkey.com]
  • […] testicular formation -OR- Regression of testicular tissue with residual fibrovascular nodule (mean 1.1 cm), calcification and hemosiderin Rudimentary epididymis and spermatic cord are present External genitalia depends on chronology of gonadal injury Etiology[pathologyoutlines.com]
  • Report of 11 cases with discussion of etiology and pathogenesis. Urology 11: 251–254 Google Scholar 5.[link.springer.com]
  • Testicular regression syndrome: both testes absent; several etiologies: True agonadism (46 XY gonadal agenesis syndrome): ambiguous genitalia; regression occurs at 8-12 weeks gestation.[auanet.org]
  • The determination of social sex should consider etiological diagnosis, penis size, ethnic traditions, sexual identity and the acceptance of assigned social sex by the parents.[orpha.net]

Epidemiology

  • Includes all-new chapters on cytology, immunohistochemistry, flow cytometry, molecular biology, and epidemiology and biostatistics.[books.google.de]
  • Summary Epidemiology The prevalence is unknown. Clinical description 46,XY PGD is characterized by ambiguous external genitalia with or without Müllerian structures.[orpha.net]
  • Additional Contributors Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology Arlan[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • If the vascular insult occur after 14 to 16 weeks Usually The external genitalia are normal. 16 pathophysiology 17.[slideshare.net]
  • […] syndrome (AIS) has 2 aspects: hormone replacement therapy (HRT) and psychological support. [5, 7, 8] For individuals with androgen insensitivity syndrome, the standard of care is an orchidectomy to prevent possible malignant degeneration of the testes. [9] Pathophysiology[emedicine.medscape.com]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Currently, there are no specific methods or guidelines available to prevent Caudal Regression Syndrome, since it is a genetic condition If there is a family history of the condition, genetic testing of the expecting parents (and related family members[dovemed.com]
  • Specifically in AIS, 'mutations' in the AR gene prevent androgen receptors from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all.[aissga.org.au]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • 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.[monash.edu]

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