We report the first Turkish patient with Floating Harbor Syndrome (FHS). The 12-year old male patient exhibited classical dysmorphic features of FHS, mental retardation, celiac disease and additional undescribed findings: microcephaly and cryptorchidism.
Abnormalities, Multiple/*pathology ; Child ; Cryptorchidism/*pathology ; Human ; Male ; Microcephaly/*pathology ; *Syndrome ; Turkey

OBJECTIVETo explore the management of the impalpable testis in children.

METHODSFrom April 2003 to August 2005, 36 children aged 20 months to 8 years with impalpable testes underwent inguinal and laparoscopy explorations. The clinical data were reviewed, including the indications of laparoscopy and inguinal explorations and the correspondence between the ultrasonic and surgical

RESULTSOf the 36 cases (36 / 361 ) of impalpable testis (41 testes), laparoscopy and inguinal explorations revealed 18 results. testes to be vanishing ones, 21 located intra-abdominally and 2 scrotal nubbins. Manifestations were divided into 4 types according to the laparoscopic findings, and 9 testes fell into Type I, 9 Type II, 13 Type III and 10 Type IV. Orchidopexies were performed by traditional and laparoscopic techniques. The positive diagnoses by ultrasound accounted for 75% (27/36). The volumes of the contralateral testes of the cryptorchid children were larger than those with intra-abdominal testes and testicular nubbins. One case of testicular atrophy was detected by ultrasound in the follow-up period.

CONCLUSIONLaparoscopy should be performed as a routine in children with impalpable testes. Children with Type II testes need not undergo inguinal exploration. Inguinal and scrotal explorations are necessary for children with Type I testes. Preoperative ultrasonic examination of the contralateral testis helps to evaluate vanishing testes or testicular nubbins.

Child ; Cryptorchidism ; diagnosis ; pathology ; surgery ; Follow-Up Studies ; Groin ; pathology ; Humans ; Male ; Testis ; pathology

Adenocarcinoma ; secondary ; Aged, 80 and over ; Cryptorchidism ; pathology ; Humans ; Male ; Prostatic Neoplasms ; pathology ; Testicular Neoplasms ; secondary

AIMTo investigate the relationship between germ cell degeneration and apoptosis in cryptorchid rats.

METHODSThirteen 21-day-old Wistar rats were made unilaterally cryptorchid by closing the left inguinal canal. At day 30 (Group 1, n=6) and day 60 (Group 2, n=7) after operation, the testes were removed for histopathological examination. The controls (n=8) were sham operated and were sacrificed at day 60. Germ cell apoptosis was assessed by means of the TUNEL method.

RESULTSSpermatogenesis was arrested and the testicular and seminiferous tubular diameters were significantly reduced In the unilateral undescended testes (UUTs) compared with the contralateral descended testes (CDTs) and the control rats. However, atrophic changes, pathological calcification, necrosis of seminiferous tubule, and absence or sloughing of germ cells were not found in all the animals. The spermatocytes were the main type of germ cells undergoing apoptosis in all the groups. In the UUTs, there was a significant and time-dependent increase in the mean apoptotic index. By 60 days after surgery, increased apoptosis in germ cells was also observed in the CDTs.

CONCLUSIONApoptosis is the predominant mechanism of germ cell death rather than atrophy and necrosis in cryptorchidism.

Animals ; Apoptosis ; Cryptorchidism ; pathology ; In Situ Nick-End Labeling ; Male ; Rats ; Rats, Wistar ; Spermatocytes ; pathology

OBJECTIVESTo discuss the new classification of epididymal malformation in cryptorchidism.

METHODSOne hundred and fifty-three boys who were two to four year old underwent orchidopexy for cryptorchidism and 144 hydroceles who were two to eight year old were enrolled into control. Based on the observation of the status between testis and epididymia, the length of epididymis and the configuration of epididymis as well as spermaduct, we divided epididymal malformations in cryptorchidism into three types. Type I: obstruction of sperm transport, including I A, I B and I C; Type II: possible obstruction of sperm transport, defined by II A and II B; Type III: no obstruction of sperm transport, classified into III A and III B.

RESULTSThere were 47 (23.4%) out of 201 undescended testes with malformation of epididymides and 16 (10.3%) out of 155 testes in the control(P < 0.05). 11 of 48 cases of bilateral cryptorchidism had the same malformations, with 2 cases of type IB, 2 of IC, 1 of II A, 4 of III A and 2 of IV B underwent orchidopexy or orchiectomy.

CONCLUSIONSThese data showed that the incidence of epididymal abnormalities in cryptorchidism was higher than that in the hydroceles and it's not essential to have orchiectomy unlimitedly to serious epididymal abnormalities.

Child ; Child, Preschool ; Cryptorchidism ; classification ; pathology ; surgery ; Epididymis ; abnormalities ; Humans ; Male ; Testicular Hydrocele ; pathology

Androgen insensitivity syndrome(AIS)with bilateral testicular malignant transformation is very rare,and its diagnosis should be based on clinical manifestations,physical examination,serological findings,karyotype analysis,and pathological findings.This study reported a case of complete androgen insensitivity syndrome among Tibetan in Tibet.It took 17 years from the discovery of congenital absence of uterus to bilateral pelvic mass resection.Pathological examination confirmed that bilateral pelvic space occupying lesions were dysplastic testicular tissue with seminoma and sertoli cell adenoma-like nodules.This study summarized the clinicopathological features to deepen the understanding of the disease.
Androgen-Insensitivity Syndrome/surgery* ; Cryptorchidism ; Female ; Humans ; Male ; Seminoma/pathology* ; Testicular Neoplasms/pathology* ; Tibet

AIMTo evaluate the long term effect of experimental cryptorchidism on germ cell apoptotic rate and testicular sperm content in adult rats.

METHODSBilateral cryptorchidism was created in 40 adult male Sprague-Dawley rats by surgically manipulating the testes into the abdominal cavity and closing the internal inguinal ring. The rats were sacrificed and the testes removed 6 hours and 2, 4, 7, 21, 28 and 56 days after cryptorchidism. Germ cell apoptosis was quantified by means of TUNEL assay and apoptosis was confirmed using transmission electron microscopy.

RESULTSThe rate of apoptosis peaked at 4 days of cryptorchidism and then progressively declined to a nadir at 14 days of cryptorchidism. At 56 days of cryptorchidism, the germinal epithelium was largely depleted by the apoptotic process and only a few mature sperm were seen within the testis. At this point, a few tubules were seen to be repopulating with primary spermatocytes and the level of germ cell apoptosis began to increase marginally. Testicular sperm count (TSC) began to decline rapidly at day 7 of cryptorchidism. Only a few mature sperm were found in the testes of rats following 56 days of cryptorchidism. Multinucleated giant cells (MGC) were most numerous within the seminiferous tubules at day 4. At day 7, 35 % of MGCs were TUNEL positive. At all subsequent time points, however, MGCs fail to stain positive for apoptosis. This resumption of increased apoptosis coincided with the appearance of a population of primary spermatocytes in some seminiferous tubules. Moreover, there was not a corresponding increase in the number of mature sperm after 56 days of cryptorchidism.

CONCLUSIONThe decline in germ cell apoptosis after 4 days of cryptorchidism can be attributed to be the result of an overall depletion of germ cells. It appears that after a prolonged cryptorchidism (56 days), there is a limited resumption of spermatogenesis presumably as a result of a decrease in the maturing germ cells undergoing programmed cell death.

Animals ; Apoptosis ; Cryptorchidism ; pathology ; Male ; Rats ; Rats, Sprague-Dawley ; Seminiferous Tubules ; pathology ; Sperm Count ; Spermatozoa ; pathology ; Testis ; pathology

BACKGROUNDCytogenetic and molecular studies of azoospermic and oligozoospermic males have suggested the presence of azoospermia factors (AZF) in the Y chromosome. Deletion in AZF regions has been reported to disrupt spermatogenesis and cause infertility. Several candidate genes responsible for spermatogenesis have been identified in this region and some of them are thought to be functional in human spermatogenesis. And we reported clinical and molecular studies of Y chromosome microdeletions in Chinese. This study aimed at assessing the frequency of microdeletions in Chinese men with idiopathic and nonidiopathic infertility problems and dicussing the clinical significance of the AZF region.

METHODSIn this study, we screened 143 infertile men (62 with idiopathic infertilitas and 81 with nonidiopathic infertilitas), in whom karyotype, sperm count, hormonal parameters and fine needle aspiration cytology were evaluated. Genomic DNA was extracted from the peripheral leukocytes. Molecular analysis was performed by two multiplex polymerase chain reactions (PCR) using a set of a sequence tagged sites (STS) from 3 different regions of the Y chromosome: AZFa (sY84, sY86), AZFb (sY127, sY134), AZFc (sY254, sY255).

RESULTSNineteen point four percent of idiopathic males (12/62, 19.4%) had microdeletions of either the AZFa, AZFb, AZFc or AZFb + c region. Significantly, a high frequency of microdeletions (9/81, 11.1%) was found in nonidiopathic patients with varicocele and cryptorchidism. No deletions were found in healthy fertile men. There were no significant differences in the localization and extent of deletions between idiopathic and nonidiopathic patients.

CONCLUSIONSThe knowledge of the presence of these deletions in idiopathic and nonidiopathic cases is important to understand the prognosis, better management and counsel these patients accordingly. Furthermore, a more extended screening for Y chromosome microdeletions in idiopathic and nonidiopathic men, particularly candidates for intracytoplasmic sperm injection, is recommended.

Chromosome Deletion ; Chromosomes, Human, Y ; Cryptorchidism ; genetics ; pathology ; Humans ; Infertility, Male ; genetics ; pathology ; Male ; Testis ; pathology ; Varicocele ; genetics ; pathology

Autophagy is involved in spermatogenesis by regulating germ cell maturation. This catabolic process increases with hyperthermic conditions to prevent the accumulation of damaged organelles. Cryptorchidism is associated with impairment of germ cell maturation revealed by the presence of immature forms of sperm cells in ejaculates. The aim of the present study was to evaluate the status of autophagy in sperm cells from cryptorchid patients. Semen samples of cryptorchid patients and normozoospermic controls were analyzed by immunocytochemistry and electron microscopy. Autophagy proteins, autophagy-related protein 9 (ATG9) and microtubule-associated protein, 1A/1B-light chain 3 (LC3) were localized by immunocytochemistry on the acrosome and on the equatorial segment of sperm cells. LC3 was also detected in the midpiece of cryptorchid sperm tail. Autophagy substrate p62 protein was present in the acrosome and in the postequatorial segment of sperm in control samples, but not in the cryptorchid ones. Transmission electron microscopy revealed double-membrane-limited autophagosomes in postequatorial part of spermatozoa head and midpiece in cryptorchid samples. Partly degraded mitochondria were frequently discerned in autophagic vacuoles. In conclusion, autophagy is increased in sperm cells from patients with cryptorchid history comparatively to control. Our work provides insights into the role of autophagy in the maturation and survival of human male gametes in pathological conditions. Thus, regulating autophagy could represent a potential way to improve sperm quality in cryptorchid men.
Adult ; Autophagy ; Case-Control Studies ; Cryptorchidism/pathology* ; Humans ; Male ; Microscopy, Electron, Transmission ; Spermatogenesis ; Spermatozoa/pathology* ; Teratozoospermia/pathology* ; Testis/pathology*

Polyorchidism is an uncommon congenital anomaly, which is defined as the presence of more than two testes, and may be associated with urological pathologies, such as an undescended testis, inguinal hernia, testicular torsion and testicular tumor. In the absence of any concomitant disorder, and if testicular tumor can be ruled out, using magnetic resonance imaging and ultrasonography, then a surgical exploration or biopsy is unnecessary. We report a case of polyorchidism in a 3 year-old-boy, with three testes in the right scrotum.
Biopsy ; Cryptorchidism ; Hernia, Inguinal ; Magnetic Resonance Imaging ; Male ; Pathology ; Scrotum ; Spermatic Cord Torsion ; Testis ; Ultrasonography