vanish testes syndrome

Dr.YASSIN M ALSALEH

2 years 6 months old boy.

Product of FT, NSVD.

Upon delivery, patient found to have empty scrotum.

On exam:

SPL 4 cm .

Testicles not palpable bilaterally.2

Case scenario

US done in ALHOUTA , they cauld not find testicles.

So patient refered to pediatric surgery in KFMC .

patient accepted for Laparoscopic exploration and orchedopexy.

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Case scenario

Karyotyping: 46XY.

FSH: 163.5 IU/L high.

LH : 6.1 IU/L.

Testerone level pre and post HCG stimulation : less than 0.08 nmol/L.

US: testicle could not be visualized.4

Case scenario

Intra-abdominal torsion and vanishing left testicle.

Extra-abdominal torsion and vanishing right testicle.

Finding:

very thin rudimentary vas defers.

Fibrotic vanishing testicle.

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Case scenario

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synonyms

a congenital condition in which no normal testicular tissue can be identified following exploration for a clinically impalpable testis.

condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis.

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introduction

The term vanishing testis syndrome was coined for the phenotype of bilateral anorchia in an otherwise normally developed male infant.

Bilateral anorchia with normal differentiated but small phallus (micropenis) is also a recognized variant of the syndrome.

Any ambiguity of the external genitalia suggests a variant of the syndrome related to some form of XY gonadal dysgenesis.

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introduction

It affects one in 20,000 male births

TRS or vanishing testis syndrome affect 5% of boys with cryptorchidism.

Vanishing testis is more common than testicular agenesis .

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prevalence

TRS is thought to be the result of late antenatal or perinatal vascular thrombosis, torsion, or endocrinopathy.

Recent studies strongly support a vascular accident and antenatal torsion theory rather than an endocrinopathy.

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pathophysiology

The incompletely descended testis is thought to be more prone to torsion during the fetal and perinatal period.

This hypothesis is supported by the presence of hemosiderin-laden macrophages in surgically removed specimens ,consistent with the venous congestion and hemorrhagic infarction secondary to torsion of a structure.

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pathophysiology

the extent of virilization depends on the developmental stage at which testicular function is lost.

Deficient androgen secretion before 8 weeks’ gestation leads to a female internal and external phenotype that includes differentiated müllerian structures.

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pathophysiology

If the loss of function occurs during the critical period for male differentiation from 8 to 10 weeks’ gestation, the genitalia are ambiguous,with variable development of the wolffian and müllerian ducts.

If the vascular insult and testicular loss occur after 12 to 14 weeks gestational age, although the internal and external genitalia are male in appearance virilization is incomplete.

If the vascular insult occur after 14 to 16 weeks Usually The external genitalia are normal.

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pathophysiology

anatomically it is characterized by a rudimentary spermatic cord with a small mass of firm, fibrotic tissue at one end, as well as elements of the vas deferens, spermatic artery and venous plexuses.

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Anatomy

The most characteristic histological findings are presence of a fibrovascular nodule with associated hemosiderin-laden macrophages and dystrophic calcification.

Residual testicular tubules are found in less than 10% of cases.

Presence of seminiferous tubules and viable germ cells in testicular remnant tissue has been reported in some series.

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histology

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Anatomy and histology

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Anatomy and histology

In the vast majority of cases, TRS appears to be a sporadic occurrence.

Testicular regression has been observed in association with genetic abnormality such as microdeletion of the Y chromosome.

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genetic

Recently, a novel heterozygous missense mutation in NR5A1 encoding steroidogenic factor (SF1) gene was found in one boy with a micropenis and TRS.

The families of some patients with anorchia may include other individuals with pure or partial 46,XY gonadal dysgenesis.

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genetic

This disorder may be unilateral or, less commonly, bilateral, with partial or complete absence of testicular tissue and, in the majority of cases, with normal external genitalia.

Testes not detected by routine imaging studies may become palpable on careful physical examination.

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Clinical Presentations

TRS patients usually exhibit a male phenotype.

the phenotypic spectrum may vary from normal male with unilateral nonpalpable testis through phenotypic male with micropenis,to phenotypic female

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Clinical Presentations

Diagnosis

criteria are:

1) no testis palpated during an examination under anesthesia.

2) visualizing blind-ending spermatic vessels within the retroperitoneum or visualizing spermatic vessels and vas deferens exiting a closed internal inguinal ring.

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Diagnosis

XY karyotype.

low testesterone levels (typical female levels).

elevated follicle stimulation hormone .

Normal or elevated luteinizing hormone level.

low anti-Mullerian hormone levels.

Low inhibin B level.

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Lab

The basal plasma FSH concentration is increased in boys with anorchia, but it may be normal and uninformative in patients aged between 2 years to pubertal age.

High gonadotropin level and unmesurable AMH and inhibin B indicate anorchia.

Also lack of testesterone respone to HCG stimulation also consistent with anorchia.

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Lab

Random inhibin B and AMH may be more helpful than HCG stimulation.

unmeasurable AMH concentration was 92.3% predictive of anorchia, while a low testosterone response to hCG was only 57.1% predictive.

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Lab

Imaging study are generally not informative.

Ultrasound or magnetic resonance imaging showing absent gonadal tissue.

Diagnostic laparoscopy has now become the preferred modality in the majority of centers. It has an accuracy of 88-100% in determining the presence, position, size and structure of the testis in various serie.

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Imaging and laparoscope

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Management

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Medical Managementtestosterone supplementation to artificially initiate puberty.

Anorchic individuals who have a female identity may be administered estrogen

Testosterone

Testoserone enathate, cypionate and propionate. IM

Initiate after age 12 years of age at 50 mg every 4 weeks. Increase with 50 mg every 6 to 12 months. After reaching 100-150 mg monthly ,decrease interval to every 2 weeks. adult dose 200 mg every 2 weeks

Not for use in boys with bone age <10 years.Erythrocytosis, weight gain, prostate hyperplasia. Premature epiphyseal closure .Local side effects (pain, erythema)

Testosterone undecanoate.IM

Adult dose 1000 mg every 10-14 weeks.

Testosterone gel Can be started when 50% adult dose with intramuscular testosterone achieved.

Local irritation. Avoid contact with other

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Medical Management

Other side effects include acne, gynecomastia.

Beneficial effects include :

decline in total plasma cholesterol and LDL concentrations, increased lean body mass, and decreased risk of osteoporosis .

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Medical Management

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Medical Management

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Medical Management

There is controversy regarding the optimal management of the testicular remnant in cases of TRS.

Some recommend surgical exploration, either laparoscopically or via inguinal/scrotal approach,

whereas others believe that these procedures are unnecessary

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Surgical Management

TRS theoretically carries a potential for malignant degeneration in the long term and therefore removal of any remnant is a common practice to eliminate this risk.

However, no case series has reported germinal dysplasia or intratubular germ cell neoplasia in any of the specimens taken from these patients.

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Risk of Malignancy

Most centers would currently still undertake surgical exploration to remove testicular remnants, even though there is usually no evidence of malignancy found.

Such a procedure could be deferred until the time of insertion of testicular prostheses.

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Surgical Management

testicular prosthetic implantation.

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Surgical Management

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Surgical Management

The histological evaluation of inguinal testicular remnants suggests that these testes became ischemic and atrophied during descent in utero or shortly after birth.

The optimal management of the testicular remnants is controversial.

authors recommend routine excision of remnants, whereas others believe that this is superfluous.

A review of the current literature has not identified any report of testicular germ cell tumors which appear to arise from TRS. 41

Conclusion

Anorchia is rare. Undetectable plasma concentrations of AMH and inhibin B and an elevated plasma FSH, together with 46,XY complement, are sufficient for its diagnosis. The hCG test is not necessary.

Treatment with low doses of testosterone at pubertal age leads to a normal adult height.

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Conclusion

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1- Ozgur Pirgon1, Bumin Nuri Dundar, Vanishing Testes: A Literature Review. J Clin Res Pediatr En docrinol. 2012;4(3):116-120.

2-Storm D, Redden T. Histologic evaluation of the testicular remnant associated with the vanishing testes syndrome: is surgical management necessary?. Urology . 2007 Dec;70(6):1204-6.

references

3- Grady RW,Mitchell ME. Laparoscopic and histologic evaluation of the inguinal vanishing testis.Urology. 1998 Nov;52(5):866-9.

4- Emir H,Ayik B. Histological evaluation of the testicular nubbins in patients with nonpalpable testis: assessment of etiology and surgical approach. pediatric surg Int .2007 Jan;23(1):41-4. Epub 2006 Oct 10.

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references

5-Law H,Mushtaq I. Histopathological features of testicular regression syndrome: relation to patient age and implications for management. Fetal pediatr pathol. 2006 Mar-Apr;25(2):119-29.

6- Tariq O. Abbas, Noora Al-Shahwani .Role of Ultrasonography in the Preoperative Assessment of Impalpable Testes: A Single Center Experience. ISRN Urology.Volume 2012, Article ID 560216, 3 pages

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references

7-Raja Brauner .Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys. PLoS ONE 6(8): e23292.

8- spires SE. Testicular regression syndrome: a clinical and pathologic study of 11 cases. Arch Pathol Lab Med . 2000 May;124(5):694-8

9- Pascal Philibert, Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. Hum Reprod. 2007 December ; 22(12): 3255–3261. 46

references

10- Kubini K.Basal inhibin B and the testosterone response to human chorionic gonadotropin correlate in prepubertal boys. J clinical endocrinol Metabolisim. 2000 Jan;85(1):134-8.

11- Zenaty D, 2006 Nov;149(5):687-91. Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment. J Pediatric.

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vanish testes syndrome

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