Congenital Spigelian hernia in a neonate associated with several anomalies: A case report

Background: Spigelian hernia (SH) is a rare entity characterized by a defect of the anterior abdominal wall located along the Spigelian line, it may be congenital or acquired.Association with other anomalies is worth reporting. Case Presentation: A 22-day-old male newborn was admitted with strangulated right inguinal hernia and operated on emergently. Clinical examination also revealed a Spigelian hernia in the left lower abdominal quadrant with bilateral cryptorchidism, associated with polydactyly of the small right finger and anal stenosis. At surgery, the SH contained a part of the small intestine and the ipsilateral undescended testis. Conclusion: Pediatric SH is rare, but its association with undescended ipsilateral testis is frequent. Other abnormalities can be concomitant to this association.

Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre

Background: Hypogonadism is a key feature of Prader-Willi syndrome (PWS) but clear strategies for hormone replacement are lacking. Objective: To evaluate gonadal status and outcome in patients attending a Scottish PWS clinic from 1991-2019. Methods: In 93 (35F:56M) patients, median follow-up 11.2 years, gonadal and pubertal status were assessed clinically. Pelvic ultrasound findings and basal/stimulated gonadotrophins were compared with age-matched controls. Results: Females: Of 22 patients aged >11, 9 had reached B4-5, while 5 were still at B2-3, and 6 remained prepubertal. Eight patients experienced menarche aged 9.8-21.4 years, none with a normal cycle. Uterine length and ovarian volumes were normal but uterine configuration remained immature, with low follicular counts. Gonadotrophins were unremarkable, serum estradiol 129 (70 – 520) pmol/L. Only 5 patients received oestrogen replacement. Males: Fifty-four (96%) patients were cryptorchid (9 unilateral). Weekly hCG injections resulted in unilateral/bilateral descent in 2/1 of 25 patients. Of 37 boys aged >11, 14 (9 with failed/untreated bilateral cryptorchidism) failed to progress beyond G1, 15 arrested at G2-3 (testes 3-10 ml), and 8 reached G4-5. Gonadotrophins were unremarkable except in boys at G2-5 in whom FSH was elevated: 12.3/27.3 vs 3.25/6.26 U/L in controls (p<0.001). In males aged >13, testosterone was 3.1 (0.5-8.4) nmol/L. Androgen therapy, given from 13.5-29.2 years, was stopped in 4/24 patients owing to behavioural problems. Conclusion: Despite invariable hypogonadism, few females and only half the males with PWS in this study received hormone replacement. Double-blind placebo-controlled crossover trials of sex steroids are required to address unproven behavioural concerns.

Suspicion of Frasier's syndrome in the nephrology unit of the Internal Medicine department of the HUEH: Case study and review of the literature.

ObjectiveFrasier syndrome is a rare genetic nephropathy characterized by the presence of progressive glomerulopathy with proteinuria associated with male pseudo hermaphroditism. This case study described a picture of a young boy where the clinical suspicion context reminded the Frasier Syndrome. To our knowledge, this case is the first described in Haiti.Case studyThis is a 19 years old young phenotypically male, born with a genital anomaly, was seen on referral at the nephrology/dialysis unit of the internal medicine department of HUEH for evaluation and follow-up. Insidious progression of symptoms had occurred over 3 years. Over three months of outpatient follow-up, he had four sets of renal labs drawn, and all showed impaired renal function. At the ultrasound a bilateral cryptorchidism is described in the inguinal, and presence of functional ovaries with follicles of variable size scattered in the parenchyma. So, in the light of these anamnestic, clinical and paraclinical findings we concluded to the diagnosis of end-stage renal failure by progressive glomerulopathy in a context of Frasier's syndrome.ConclusionWith any clinical picture consisting of genital anomalies at birth, renal symptomatology during childhood and the diagnosis of renal failure during adolescence, rare genetic nephropathies, such as Frasier syndrome must be considered.

The fat anchor orchiopexy technique: results and outcomes from 150 cases surgical experience

Purpose The purpose of the study is to evaluate results and outcomes in a long-time follow-up period, by performing a novel testicular fixation procedure, known as “fat anchor orchidopexy” (FAO), for the treatment of palpable low inguinal undescended testis. Materials and methods We retrospectively reviewed all patients who underwent scrotal orchiopexy technique, from May 2013 to May 2019, at the Pediatric Surgery Division of Department of Surgical Pathology, University of Pisa (Italy). FAO (Spinelli’s technique) consists in anchoring the testicles to sub-scrotal fat with a single trans-scrotal incision. All the patients enrolled had history of unilateral or bilateral undescended testis. Data collected included patient’s age, operative times and complications. Results A total of 150 children with cryptorchidism were treated using a single trans-scrotal orchiopexy. Of them, 130 patients (86.7%) had unilateral undescended testis and 20 (13.3%) bilateral cryptorchidism. Mean patient’s age was 21 months (range: 14–28 months). All the procedures were planned in a day-surgery setting. Trans-scrotal orchiopexy was successful in all cases and no patients required an additional groin incision. No intraoperatively and postoperatively major complications were observed. Patients’ post-operative pain was mild (mean pediatric visual analog scale = 2). In all cases, the healing process was rapid and no surgical wounds infections were reported during the post-operative period, referring excellent cosmesis results. During a mean 48-month follow-up period, no testicular retraction, recurrence or testis atrophy was reported. Conclusion The original Spinelli’s technique (FAO) proves to be a safe and effective method for the treatment of palpable or distal-to-external-inguinal-ring testes. No immediate and delayed post-surgery complications were reported. In all cases, the anchored testicle remained in the scrotal position with normal vascularization. This novel surgical technique could give better options for scrotal fixation in case of low-lying cryptorchid testes.

Repeated surgical interventions for relapses of cryptorchidism in children

The aim of the study is to demonstrate a differentiated approach to recurrent cryptorchidism treatment. Materials and methods. Over the past five years (since 2015), the staff of the Department of Pediatric Surgery of A.I. Evdokimov Moscow State University of Medicine and Dentistry, performed surgical treatment of 20 children aged 2-17 years with recurrent cryptorchidism (22 testicles). Relapse of cryptorchidism on one side was diagnosed in 18 patients. Two patients had a bilateral cryptorchidism recurrence, these children had a combined pathology in the form of Prader-Willi syndrome. In 3 children, surgical treatment at their place of residence was performed two or more times. As a preoperative preparation to increase the elasticity of blood vessels and to lengthen them, a course of human chorionic gonadotropin (hCG) hormone therapy was carried out according to the scheme. The exception was children over the age of 6-7 as administration of hCG at this age can provoke an earlier onset of puberty. Intraoperatively, in 15 children, the testicle was fixed in the scrotum according to the method of Shemaker, Herzen, and others. In 5 children with abdominal cryptorchidism, the testicle was not descended into the scrotum and was fixed in the inguinal canal due to a deficiency in the length of the spermatic cord (SC). On examination, a testicle in the middle or lower third of the inguinal canal was found in 10 patients, at the root of the scrotum - in 7. In 5 patients, the testicle was not detected. The average period between the first and repeated surgery was 3 years (from 4 months to 8 years). Upon admission, all patients underwent a clinical examination, ultrasound examination of the inguinal canals, and a study of the hormonal profile if indicated. Results. After revision of the inguinal canal, 17 testicles were successfully re-descended using the Shemaker technique. Of these, 16 testicles were fixed in the scrotum, 1 testicle - at the root of the scrotum. During the second operation, the vaginal process of the peritoneum was found in 7 children. Laparoscopically-assisted orchipexy was performed in 3 patients. Orchiectomy was performed in 5 cases due to testicular atrophy. The duration of the surgery was 55-120 minutes. There was no intraoperative blood loss. In the long-term postoperative period (after a year or more), postoperative testicular atrophy was not detected.

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder characterized by the lack of regression of the derivatives of the Müllerian ducts in males. Boys with this condition usually present with unilateral or bilateral cryptorchidism, inguinal hernias, and reproductive disorders with normal male genitalia. Variants in the AMH or AMHR2 genes are responsible for the development of this syndrome. The genetic diagnosis and surgery in PMDS is challenging for both the endocrinologist and the urologist. Here, we describe the management of 2 siblings from 1 family who presented with bilateral cryptorchidism and hypospadias at birth. One child had testis located in the pelvis in the position of normal ovaries, while the other child had testis which were located in the inguinal canals (bilateral inguinal cryptorchidism). Exome sequencing revealed a compound heterozygous variant in the AMHR2 gene c.1388G>A, p.R463H and c.1412G>A p.R471H. To our knowledge, hypospadias has not been described in association with PMDS.