Zespół Frasiera u 17-letniej dziewczynki – opis przypadku

Abstract The authors present a case of Frasier syndrome in a 17-year-old girl with nephrotic syndrome and male pseudohermaphroditism. Due to the existing risk of developing tumors in dysgenetic gonads, the patient was admitted to the clinic for prophylactic gonadectomy. The operation was then postponed as a result of rapid progression to end-stage renal failure, and the patient was placed on hemodialysis. During subsequent laparoscopy, both ovaries and dysgenetic gonads were resected. Histopathological examination revealed the presence of both seminal ducts and epididymis. Early prophylactic resection of dysgenetic gonads, such as was undertaken in this patient, is indicated in children with Frasier syndrome to prevent the development of germ cell tumors.Streszczenie Autorzy prezentują przypadek 17-letniej dziewczynki z zespołem nerczycowym i obojnactwem rzekomym męskim. Z powodu ryzyka nowotworu wywodzącego się z dysgenetycznych gonad dziewczynka została przyjęta do Kliniki Chirurgii Dziecięcej do profilaktycznej gonadektomii. Planowany zabieg został odroczony z powodu pogorszenia funkcji nerek aż do ich schyłkowej niewydolności. Po wdrożeniu leczenia nerkozastępczego i wyrównaniu parametrów gospodarki azotowej wykonano laparoskopową gonadektomię obustronną z usunięciem obu jajowodów. W badaniu histopatologicznym w gonadach stwierdzono struktury najądrza i przewodów nasiennych. Wczesne profilaktyczne usunięcie dysgenetycznych gonad jest wskazane u dzieci z zespołem Frasiera w celu zapobiegania powstania guza wywodzącego się z komórek germinalnych

Topography and morphometry of intestinal mast cells in children with Hirschsprung's disease.

Mast cells (MC) are source of many biological active compounds like cytokines, arachidonic acid derivates, proteoglicanes, prostaglandins, proteases, free oxygen radials, NGF, PAF and many more. The role of MC in pathogenesis of Hirschsprung's disease (HD) is not clear. Substances produced by MC may exert an important effect on embryology, growth, differentiation and regeneration of intestinal nervous system. Additionally, MC products modulate inflammation processes thus influencing on the clinical course of HD. Present study was established to evaluate the morphologic MC examination as a support of making diagnosis in HD. The MC topography and morphometry were evaluated in specimens collected from aganglionic colon of patients with diagnosed HD. The results were compared with corresponding data from normally innervated colon of patients suffering from constipation, and normal colon of children not presenting defecation problems. MC were visualized using indirect immunohistochemical method LSAB with mouse antibody against human tryptase. The MC visualized in submucosa and muscular layer in Hirschsprung's disease were significantly larger in comparison with control group (

Serum AMH in Physiology and Pathology of Male Gonads

AMH is secreted by immature Sertoli cells (SC) and is responsible for the regression of Müllerian ducts in the male fetus as part of the sexual differentiation process. AMH is also involved in testicular development and function. AMHs are at their lowest levels in the first days after birth but increase after the first week, likely reflecting active SC proliferation. AMH rises rapidly in concentration in boys during the first month, reaching a peak level at about 6 months of age, and then slowly declines during childhood, falling to low levels in puberty. Basal and FSH-stimulated levels of AMH, might become a useful predictive marker of the spermatogenic response to gonadotropic treatment in young patients with hypogonadotropic hypogonadism. After puberty, AMH is released preferentially by the apical pole of the SC towards the lumen of the seminiferous tubules, resulting in higher concentrations in the seminal plasma than in the serum. Defects in AMH production and insensitivity to AMH due to receptor defects result in the persistent Müllerian duct syndrome. A measurable value of AMH in a boy with bilateral cryptorchidism is predictive of undescended testes, while an undetectable value is highly suggestive of anorchia or ovaries, as would be the case in girls with female pseudohermaphroditism and pure gonadal dysgenesis. Lower serum AMH concentrations in otherwise healthy boys with cryptorchidism, who were compared with their age-matched counterparts with palpable testes, have been reported previously. AMH levels are higher in prepubertal patients with varicocele than in controls. This altered serum profile of AMH in boys with varicoceles may indicate an early abnormality in the regulation of the seminiferous epithelial function. Serum AMH is known to be valuable in assessing gonadal function. As compared to testing involving the administration of human chorionic gonadotropin, the measurement of AMH is more sensitive and equally specific. Measurement of AMH is very useful in young children, because serum gonadotropin concentrations in those who are agonadal are nondiagnostic in midchildhood and serum testosterone concentrations may fail to increase with provocative testing in children with abdominal testes

Serum Bisphenol A Level in Boys with Cryptorchidism: A Step to Male Infertility?

Cryptorchidism is the most common congenital birth defect in boys and affects about 2–4% full-term male neonates. Its etiology is multifactorial. Purpose. To evaluate the serum bisphenol A (BPA) levels in boys with cryptorchidism and healthy boys and to assess the risk of environmental exposure to BPA using the authors’ questionnaire. The data were acquired from a study on boys with cryptorchidism (n=98) and a control group (n=57). Prior to surgery, all patients had BPA serum levels evaluated. The size, position, rigidity of the testis, and abnormality of the epididymis of the undescended testis were assessed. Parents also completed a questionnaire on the risks of exposure to BPA in everyday life. Results. The testes in both groups were similar in size. The turgor of the undescended testis in the group of boys with cryptorchidism was decreased. Free serum BPA level in cryptorchid boys and in the control group was not statistically significant (p>0.05). The conjugated serum BPA level in cryptorchid boys and in the control group was statistically significant (p≤0.05). Total serum BPA level in cryptorchid boys and in the control group was statistically significant (p<0.05). Serum total BPA level was related with a positive answer about problems with conception (p<0.02). Conclusion. Our study indicated that high serum BPA was associated with cryptorchidism

Serum AMH concentration as a marker evaluating gonadal function in boys operated on for unilateral cryptorchidism between 1st and 4th year of life

The aim of this study was to measure the serum AMH (anti-Mullerian hormone) concentrations in a group of boys with or without cryptorchidism, evaluation of karyotypes, testicular position, morphology, and major length of the undescended testes. Fifty boys who were 1–4 years old (median = 2.4 years) with unilateral cryptorchidism were evaluated. All of them underwent orchidopexy in 2010. Prior to the procedure, all of the subjects had undergone karyotyping to exclude chromosomal abnormalities. Fifty healthy boys within the same age range (median = 2.1 years) admitted for planned inguinal hernia repair in 2010, served as controls. Blood samples were collected, while obtaining blood for standard laboratory tests routinely performed before the surgeries. Medians of AMH in boys with cryptorchidism were lower than in boys with inguinal hernia and differed significantly between two groups. Undescended testes were generally found in superficial inguinal pouch (n = 46), in two cases were noted to be in the external ring of the inguinal canal, and in another two instances, in the abdominal cavity. The major lengths of the undescended testes were smaller in comparison to the testes positioned normally (mean of 1 cm vs. a mean of 1.5 cm, respectively). In nine of the cases, the testes had turgor deficit, a drop shape, with epididymides that were small, dysplastic, and separated from the testis. The authors found that AMH was lower in boys with unilateral cryptorchidism (also found to have smaller testis) when compared with the control group

The Impact of Bisphenol A on Fertility, Reproductive System, and Development: A Review of the Literature

Bisphenol A (BPA) has been used since the 1950s, in food packaging, industrial materials, dental sealants, and personal hygiene products. Everyone is exposed to BPA through skin, inhalation, and digestive system. BPA disrupts endocrine pathways, because it has weak estrogenic, antiandrogenic, and antithyroid activities. Despite the rapid metabolism, BPA can accumulate in different tissues. Many researchers proved the impact of BPA on human development, metabolism, and finally reproductive system. There is increasing evidence that BPA has impact on human fertility and is responsible for the reproductive pathologies, e.g., testicular dysgenesis syndrome, cryptorchidism, cancers, and decreased fertility in male and follicle loss in female

HIF-1 α as a Key Factor in Bile Duct Ligation-Induced Liver Fibrosis in Rats

Background: Although several studies suggested hypoxia as an important microenvironmental factor contributing to inflammation and fibrosis in chronic liver diseases, the mechanism of this process is not fully understood. We considered hypoxia inducible factor (HIF-1α) as a key transcription factor in liver fibrosis. The aim of the study was to evaluate the mechanisms of signaling pathway during bile duct ligation (BDL)-induced liver fibrosis in rats. Methods: BDL animal model of liver fibrosis was used in the study. Male Wistar rats were divided randomly into two experimental groups: sham group (n = 15), BDL group (n = 30). Hydroxyproline (Hyp) content as a marker of collagen accumulation in liver of rats subjected to BDL was evaluated according to the method described by Gerling B et al. Expression of signaling proteins [integrin β1 receptor, HIF-1α, nuclear factor kappa B (NF-κB), and transforming growth factor (TGF-β)] was evaluated applying Western-immunoblot analysis. In all experiments, the mean values for six assays ± standard deviations (SD) were calculated. The results were submitted to the statistical analysis using the Student's “t” test, accepting p < 0.05 as significant. Results: Ligation of bile ducts was found to increase Hyp content in rat liver, accompanied by increase of HIF-1α expression during 10 weeks after BDL. The Hyp level was time dependent. There was not such a difference in control group (p < 0.001). Simultaneously expression of NF-κB, TGF-β, β1-integrin receptor was significantly elevated starting from sixth week after ligation. Activity of metalloproteinases 2 and 9 in the livers were increased 1 week after surgery and remained increased until the end of the experiment. Conclusions: The mechanism of development of liver fibrosis involves activation of Matrix metalloproteinase-2 (MMP-2) and Matrix metalloproteinase-9 (MMP-9), upregulation of HIF-1α transcriptional activity and its related factors, NF-κB and TGF-β. It suggests that they may represent targets for the treatment of the disease

A safe "cut, tie and thread-pull" method for percutaneous endoscopic gastrostomy tube removal in children with congenital craniofacial anomalies and pharyngeal stenosis

Percutaneous endoscopic gastrostomy (PEG) is a widely used method for tube feeding with enteral nutrition. Both PEG´s insertion and PEG´s removal are usually easy and uncomplicated. The latter can be, however, of substantial difficulty in children with distorted anatomy, such as pharyngeal stenosis or endured craniofacial trauma, when regular endoscopy is contraindicated. The aim of the study was to assess the very simple, but rarely used method for percutaneous removal of the tube by pulling the thread. Four children (4 males, mean age 4.1 year) were analyzed. In all of them the procedure was successful, quick and uncomplicated. To conclude, the thread method should be recommend in case the endoscopic removal is impossible