Maria Grazia Cortese

Sperm count of young men surgically treated for cryptorchidism in the first and second year of life: fertility is better in children treated at a younger age.

INTRODUCTION Recent data has indicated the usefulness of performing orchiopexy in the first years of life. In this study, we evaluated testicular function in young men operated on for cryptorchidism in the first year of life. To our knowledge, this is the first report on the effects of such an early treatment. MATERIALS AND METHODS Testicular function was assessed in a group of young men operated for cryptorchidism during the first year of life (Group A, n=13) and during the second year of life (Group B, n=16). RESULTS Total sperm counts were clearly higher in Group A (52.3+/-14.3 million/ml vs. 30.4+/-23.5 million/ml, p=0.005) as was sperm motility (36.2+/-8.7 vs. 23.1+/-15.7%, p=0.009). A clear inverse relationship was found between age at orchiopexy and total sperm count (r=-0.394, p=0.034) and sperm motility (r=-0.382, p=0.041). The relationship between volume of testes, position at surgery, uni/bilaterality of cryptorchidism, evidence of Ad spermatogonia at biopsy performed during surgery and treatment with LHRH and hCG performed before surgery and fertility was not significant. The latter findings may be partially explained by the low number of patients participating in the study and need further investigation. CONCLUSIONS We obtained, for the first time, results showing the benefit of treating cryptorchidism during the first year of life rather than in the second year or even later.

Early Hormonal and Surgical Treatment of Cryptorchidism

PURPOSE We investigated the efficacy of early gonadotropin treatment of cryptorchidism for promoting testicular descent and ameliorating testicular histology. MATERIALS AND METHODS We treated 319 cryptorchid testes in 281 boys 4 months to 3 years old with luteinizing hormone-releasing hormone and human chorionic gonadotropin sequential therapy. Surgery was done on the 207 testes that did not respond to medical treatment. Microscopic biopsies were performed in 134 of these 207 testes. Histological findings were compared to those of 30 cryptorchid testes in boys younger than 1 year who underwent surgery without previous hormonal treatment. RESULTS Combined luteinizing hormone-releasing hormone and human chorionic gonadotropin treatment induced scrotal descent of a percentage of cryptorchid testes depending on clinical position. Therapeutic success was greater when testes were in a lower position and results were not age dependent. Hormonal treatment of cryptorchidism during the first year of life stimulated spermatogonia maturation. CONCLUSIONS When administered at the end of age 6 months, hormonal treatment can be considered an effective and timely substitution for gonadotropin and testosterone insufficiency in cryptorchid infants. Therefore, we recommend this therapeutic procedure combined with surgery in the first year of life.

Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome

Goldberg and Shprintzen [1981] reported two sibs with short-segment Hirschsprung disease, microcephaly, mental retardation, and a distinct facial appearance, including hypertelorism. Up to now, 11 sporadic cases [Brunoni et al., 1983; Breslau andLaan, 1989;Halal and Morel, 1990; Tanaka et al., 1993; Ohnuma et al., 1997; Mowat et al., 1998] and 7 sets of sibs for a total of 17 familial cases [Goldberg and Shprintzen, 1981; Hurst et al., 1988; Kumasaka and Clarren, 1988; Yomo et al., 1991; Fryer, 1998; Brooks et al., 1999] have been reported in the literature. Inheritance of the syndrome is thought to be autosomal recessive (MIM 235730), but genetic heterogeneity has been suggested with sporadic cases possibly having contiguous genes syndromes or de novo dominant mutations [Wakamatsu et al., 2001]. Ohnuma et al. [1997] first described in this Journal themagnetic resonance imaging (MRI) abnormalities in a patient affected by the Goldberg–Shprintzen syndrome. Brain hypoplasia, loss of parenchymal volume, especially in the white matter, hypoplasia of the corpus callosum including absent rostrum, genu and splenium, were the abnormal changes observed. We report a patient with the Goldberg–Shprintzen syndrome who presents novel MRI findings including pachygyria and paleo-neocerebellar hypoplasia, suggesting that the migration defect observed in the syndrome involves not only the neural crest cells but also the neurons. The patient was born to healthy, nonconsanguineous parents at 38 weeks of gestation after an uncomplicated pregnancy. Birth weight was 2600 g, length 46 cm, head circumference 31 cm (all parameters 2SD below the mean for gestational age). A diagnosis of megacolon was suspected in the perinatal period because of severe constipation and abdominal distension. At surgery, a short segment typeHirschsprung disease, extending for few centimeters above the ano-rectal junction, was diagnosed. Aganglionosis of the myenteric and submucosal plexus was demonstrated on histological examination. The infant had dysmorphic facial features such as sloping forehead, sparse eyebrows, ocularhypertelorism (ICD 27 mm, OCD 52 mm), depressed nasal bridge, bulbous nose, and full lips (Fig. 1). The ophthalmologic examination revealed pale optic disks, lack of fixation and abnormal eyemovements. The visual evoked potentials yielded reduced responses, while the auditory evoked potentials were grossly normal. A brain MRI showed pachygyria, hypoplasia of the corpus callosum and hypoplasia of the vermis and cerebellar hemispheres (Fig. 2). The high resolution (800 bands) karyotype was normal 46,XY. FISH analysis with the Miller-Dieker probe was negative for a distal 17p deletion. Analysis ofRETmutationswas negative. Nomutations in the newly identified SIP1 gene were found. Follow up at 4 months of age revealed severe developmental retardation, abnormal EEG, and microcephaly (head circumference 36.5, below the 3rd centile). Several genes are potentially involved in isolated and syndromic Hirschsprung disease, such as RET, GDNF, EDN3, and EDNRB. Their mutations result in disturbed development and migration of the neural crest cells during embryogenesis [Seri et al., 1997]. The ShahWaardenburg syndrome (WS4) is a rare neurochristopathy that results from the absence of melanocytes and

Improved sperm count and motility in young men surgically treated for cryptorchidism in the first year of life

INTRODUCTION The timing of surgery in cryptorchidism has been debated for a long time. Reports on histology suggest better fertility outcomes with early surgery, whereas evidence of long-term improved fertility still lacks sound data. The aim of this study is to analyze sperm count and motility in a cohort of young men operated on during the first 2 years of life for cryptorchidism. PATIENTS AND METHODS A total of 78 young men (age, 18-26 years) surgically treated for cryptorchidism in the second year of life were recalled to evaluate testicular volume and sperm count and motility. Of the 78 young men, 51 accepted to participate to clinical and sperm evaluation. Relationship between total sperm count (TSC), sperm motility (SM), and age at surgery was investigated by Student t-test and Fisher test. Patients were divided into two groups: those patients who were submitted to surgery in their first year of life (Group A) and those patients who were submitted to surgery in their first and the second year of life (Group B). We investigated the ratio of those patients with normal sperm count to those patients with abnormal sperm count (we defined as normal TSC > 15 million and SM > 15%) and compared the mean TSC and SM in the two groups. RESULTS TSC were slightly but not significantly higher in the first group (45.5 ± 15.5 million/mL vs. 36.5 ± 23.6 million/mL, p = 0.107) and SM (30.5% ± 11.3% vs. 26.5% ± 15.4%, p = 0.341). The percentage of patients with normal sperm count and motility were significantly higher in the first group: normal TSC was found in 26 of 27 patients (96.3%) in Group A versus 18 of 24 patients (75.0%) in Group B (p = 0.042), normal SM was found in 26 of 27 patients (96.3%) versus 16 of 24 patients (66.7%), respectively (p = 0.008). In the two groups, no statistically significant difference was found neither in the proportion of patients with bilateral cryptorchidism, in the position of the testes, nor in the ratio of subjects treated with hormonal therapy before being operated on. CONCLUSIONS In formerly cryptorchid subjects submitted to surgery in the first 2 years of life, the percentage of patients with normal sperm count and motility is higher than 95%, with even better fertility prognosis if orchiopexy is performed in the first year of life.

Cryptorchidism: medical and surgical treatment in the 1st year of life.

Since cryptorchidism can cause infertility and early orchiopexy can improve fertility, we tried to determine whether medical and surgical treatment in the 1st year of life can improve testicular fertility. We concluded that this is the best time to treat cryptorchid tests.

A rare anorectal malformation: a very large H-type fistula.

Abstract. A very large H-type rectovaginal fistula was observed in a 9-year-old girl. The diameter of the abnormal opening was about 15 mm. The fistulous tract originated from the stenotic segment 1 cm above the pectinate line of the anus and was connected to the back wall of the vagina. The patient underwent posterior sagittal transrectal surgery with a protecting colostomy. At present, she has good bowel function and sphincter control without recurrence of the fistula.

Association between Multiple Intestinal Atresia and Omphalocele: A Case Report

Multiple intestinal atresia is a rare disorder with vascular or hereditary etiology. So far, the occurrence of this malformation along with omphalocele has not been reported. We describe a boy born from a nonconsanguineous gypsy couple with intrauterine growth retardation, omphalocele, and multiple intestinal atresia from the pylorus to the rectum. The microscopic examination of the intestine shows multiple small lumina with a sieve-like appearance. This is characteristic of the hereditary alresias and suggests development of a defect in (re) canalization during embryogenesis. The association with omphalocele indicates a common developmental defect may be present.

Cystic intra-abdominal masses in children

Benign intra-abdominal cystic masses in infancy are fairly uncommon and their etiopathogenesis, histology and clinical presentation differ significantly. Our aim is to report our experience in their treatment in order to discuss the best diagnostic and treatment modality. The medical records of 5 children (2M, 3F) with cystic intraabdominal masses referred to our hospital between November 2012 and September 2016, were retrospectively reviewed. All patients underwent open surgery and subsequent histopathologic analysis. Different clinical presentations, localizations of the masses, diagnostic tools, surgical approaches, histological examinations and outcomes were reviewed. Patients mean age was 5.4 years (range: 8 months-9 years). Two patients presented recurrent abdominal pain and abdominal distension; 1 patient had a palpable mass discovered incidentally and 2 complained acute abdominal pain. Routine laboratory tests, tumor markers and abdominal ultrasound were immediately done in all patients. Three patients underwent MRI and 1 abdominal CT. At laparotomy 2 hepatic cysts, 2 mesenteric cyst and 1 retroperitoneal cyst were discovered. Histology reports described: 1 hepatobiliary cystadenoma, 1 benign hepatic hamartoma and 3 cystic lymphangiomas (1 retroperitoneal and 2 mesenteric). There were no major postoperative complications, deaths, or recurrences in our series (follow-up 3-24 months). Despite the rarity of these lesions, benign cystic abdominal masses in children are not so uncommon and should be considered as causes of acute abdominal pain. The differential diagnosis is not always possible preoperatively. In our series, radical excision of the lesions was possible in all cases, allowing reliable histological results and avoiding recurrences.