Ring chromosome 9 syndrome

Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.

Vanishing testis

A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.


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PMID (PMCID)
17054004
MALE Child
Laparoscopy for impalpable testis: classification-based management.
El-Anany F, Gad El-Moula M, Abdel Moneim A, Abdallah A, Takahashi M, Kanayama H, El-Haggagy A.
Surg Endosc. 2007;21(3):449-54.
The laparoscopic findings were classified into six types: type 0 (no testis or vanished testis proximal to the internal ring; 9 patients [7.5%]); type 1 (atrophic intracanalicular testis; 6 patients [5.4%], for whom no further intervention was administered); type 2 (testis at the internal ring with looping vas; 15 patients [14.5%], for whom laparoscopic orchiopexy was performed); type 3 (testis at the internal ring without looping of the vas; 29 patients [24.7%], for whom laparoscopic orchiopexy also was performed; type 4 (high abdominal testes; 49 patients [41.9%], with Staged Fowler-Stephens orchiopexy performed for 47 testes and laparoscopic orchidectomy for 2 testes; and type 5 (persistence of Mullerian duct structures [PMDS] or other abnormalities; 7 testes [6%]).