Palpable Testes Research Articles

PSIS With Phenotypic Features of Prader Willi and Fragile X Syndrome

Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect characterized by triad of interrupted or thin pituitary stalk, hypoplasia or aplasia of anterior lobe and absent or ectopic posterior pituitary on MRI. PSIS is known to have a heterogenous phenotype involving variable combination of pituitary hormonal deficiencies. [1] We present this case diagnosed with PSIS who had phenotypical features of Prader-Willi and Fragile X Syndrome but was negative on chromosomal array and analysis. Case Presentation: 19 yo M presented to clinic accompanied with his mother who provided most of the history. As per the mother, the patient was initially evaluated for hypogonadism due to lack of pubic and axillary hair with underdeveloped penis and testes, till the age of 17 years. Later on he was found to have hypothyroidism and was on replacement for the above. The patient was born through C-section at term, had developmental delays with respect to achieving milestones. On Examination, the patient had BMI of 35.5 (Weight: 105.2 kg, Height: 172 cm). Exam was significant for bilateral gynecomastia with glandular tissue, absence of facial hair, minimally palpable testes, phimosis, minimal pubic hair. He was noted to have enlarged ear lobes and helices with mild hypertelorism. On evaluation patient had learning disability, borderline IQ (nonverbal IQ of 74). Labs were significant for FSH: 0.344 (normal 1.5-12.4), LH; 0.1 (normal 1.70-8.60), Prolactin: 6.31 (normal 2.64-13.13), TSH: 3.80 (normal 0.30-4), T3: 156 (normal 82-179), fT4: 0.409 (normal 0.30-1.90), Testosterone < 0.025, IgF-1 <32, ACTH 14, cortisol 2.1 after cosyntropin test cortisol 13.3. He was started on replacement for secondary adrenal insufficiency. In view of the patient’s obesity, panhypopituitarism, questionable intellectual disability (non-verbal) IQ of 74), and enlarged ear lobes and helices, the patient was strongly suspected to have Prader Willi and Fragile X syndrome, however chromosomes and array were negative for both. MRI brain was recommended that was consistent with PSIS: hypoplastic enhancing pituitary soft tissue within Sella consistent with anterior lobe, ectopic posterior pituitary in region of hypothalamus and unidentifiable pituitary stalk. Conclusion: Pituitary stalk interruption syndrome is diagnosed radiologically and involves multiple pituitary hormonal deficiencies that can gradually progress requiring lifelong hormonal replacement therapy and follow up. It is associated with a wide phenotypic spectrum suggesting both hormonal deficiencies and coexisting developmental defects. Work still needs to be done to further explore the molecular etiology of this rare syndrome however due to wide phenotypical presentation of this syndrome it is imperative to evaluate for PSIS at an early age if there is suspicion of any isolated or combined hormonal deficiency in addition to abnormal morphology to identify individuals with PSIS as they need close monitoring for progression of syndrome and lifelong hormonal replacement eventually.

Laparoscopic Fowler-Stephens orchidopexy for intra-abdominal cryptorchid testis: a single institution experience.

Fowler-Stephens Laparoscopic Orchiopexy (FSLO) permits the mobilization of Intra-Abdominal Testis (IAT) to the scrotal position after spermatic vessel ligation. We reported our experience of FSLO for IAT. The charts of all boys who underwent a FSLO were retrospectively reviewed. Data were analysed for demographic data, procedure, complications and follow-up results. From January 2008 to June 2016, 160 laparoscopies for Non Palpable Testis (NPT) were performed at a mean age of 3,2 years. 61% of patients had a right NPT, while 6% were bilateral. In 64 cases, an IAT was found: 20 were managed by FSLO with a two-stage procedure in 11 patients. There were no differences in hospitalisations; one patient had a prolonged ileus. Follow-up ranged from 1 to 8 years. Of the 20 patients who underwent FSLO, testicular atrophy developed in three; the remaining testes were in the scrotal position, with normal consistency. FSLO was applied in 31% of IAT. The overall success rate of the technique was 85 %. The percentage of atrophy associated after spermatic vessels interruption appears to provide a good chance of testicular survival.

Single Median Raphe Scrotal incision Orchiopexy: A safe & feasible approach for fixation of Palpable Undescended testes.

Background:We wish to share our outcome of single median raphe scrotal incision orchiopexy (SMRSO) regarding safety & feasibility of technique by evaluating ease of access, conversion rate, duration of surgery, success rate, complications, and the need for redo-surgery.Methods:We retrospectively analyzed data of 277 orchiopexies performed in our department on 224 patients operated on between June 2016 to June 2019. SMRSO was considered for palpable testes that can be brought to the upper limit of the scrotum under anesthesia. The conventional inguinoscrotal approach was used for high lying testes. A median raphe incision was made to access & mobilize the testis on either side, ligation of processus vaginalis performed, and the testes secured in the scrotal pouch. The approach was utilized for both unilateral and bilateral orchiopexies. Follow-up done at one week, one month & six months to evaluate the outcome.Results:A total of 277 orchiopexies were performed in 224 patients. 237 (86%) orchiopexies were via the median raphe scrotal approach in 184 patients. Out of these, 53 cases had bilateral orchiopexies. 30 (11%) performed via a conventional inguinoscrotal approach and 10 (4%) by laparoscopic approach. The mean duration of surgery for SMRSO was 24 minutes for unilateral and 42 minutes for bilateral cases. Immediate postoperative complications included scrotal hematoma in three (1.6%) cases, Hematoma of the abdominal wall in one case, and scrotal edema in 4 (2 %) patients. All complications were treated conservatively & resolved. No wound infection or testicular atrophy was reported. Long-term complications included testicular ascend in three cases [1.6%].Conclusion:Single-incision Median Raphe Scrotal orchiopexy is an attractive alternative to the standard inguinoscrotal orchiopexy for palpable low lying undescended testes with a better cosmetic outcome.

SRY-negative in 46, XX Male Testicular DSD: a case report

Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, the primordial gonad. Deviations of this signaling mechanism may result in disorders/differences of sex development (DSD). The 46, XX testicular DSD is a rare genetic condition identified by a discrepancy between genetic and phenotypic sex caused sex reversal syndrome. Case Presentation: We describe the case of a 5 years-old 46, XX boy with ambiguous genitalia. On physical examination he had severe hypospadias, bifid scrotum, micropenis and palpable bilateral testes. Cytogenetic analysis of patient reveals a 46, XX karyotype. Hormonal assay showed low level of FSH, LH and Testosterone and there was no evidence of Mullerian structures based on pelvic imaging. The histopathology of gonadal tissue showed a Leydig cell hyperplasia which gives the impression of Sertoli cell nodule. Polymerase chain reaction (PCR) analysis failed to identify the presence of SRY gene, therefore a diagnosis of 46, XX Testicular DSD with SRY-negative was established. Conclusion: This report presents a rare case of SRY-negative 46, XX Testicular DSD in a boy with ambiguous genitalia. A comprehensive management including clinical, cytogenetic and molecular analyses have indicated that undiscovered genetic or environmental factors needs to be elucidated. It is important to carry out further molecular testing to establish precise diagnosis of DSD and to provide appropriate genetic counseling for patients and their family.

Study of Clinically Nonpalpable Testis

Undescended testis or cryptorchidism is a common genital problem in boys. Non palpable testis represents 25% of all undescended testis. Non palpable testis presents a unique diagnostic and therapeutic problem. Non palpable testis should be treated to enhance future chances of fertility and to place the testis at a site where it can be easily palpated because such a testis has an increased susceptibility to malignant degeneration. Aims: • Toestablishdiagnosticefficacyandaccuracy in identifying clinically non-palpable testis. • To establish therapeutic role of Open and laparoscopic management of non-palpable testis. Methods and Material: Between 2015 and 2019, 25 boys with 28 clinically non-palpable testis, aged 16 months to 65 years, underwent operative intervention in a single surgical unit at our institute. Out of the 25 patients, 22 had unilateral (11 leftsided, 11 right-sided) and three had bilateral non palpable testis. The testis was considered non palpable after thorough clinical examination, ultrasonography and examination under anaesthesia failed to detect it. Keywords: Nonpalpable Testis

A multicenter review of undescended testis torsion: A plea for early management

Torsion of an undescended testis (UT) is a surgical emergency, difficult to diagnose, whose prognosis depends on a quick management. To evaluate the management and outcome of these patients. We retrospectively analyzed all cases of UT torsion operated in nine French hospitals between 1997 and 2017. We divided patients in two groups: patients referred less than 6h after the onset of symptoms (group A) or more than 6h (group B). We collected 60 cases (17 in group A and 43 in group B). Median age was 2.2 years [IQR=0.7-7.8] (2.3y in group A and 2y in group B, p=0.76). Eleven patients (10 in group B) had neurological disorders (p=0.15). The main reason for absence of UT treatment was the absence of surgical consultation in a normal delay (n=44, 73%). Symptoms were pain (n=58, 97%), inguinal mass (n=55, 92%) and vomiting (n=16, 27%). An inguinal mass with no palpable testis in the ipsilateral hemiscrotum was seen in 55 patients (92%). An ultrasound scan performed in 27 patients led to the diagnosis in 16 patients (59%). At surgery, an orchiectomy was performed in 4 patients (23%) of group A and 24 patients (56%) of group B (p=0.04). After a median follow-up of 11 months [IQR=4-23], 11 patients of group A (65%) and 7 patients of group B (16%) had a clinically normal testis (p=0.03). The salvage rate among patients with conservative treatment was 85% for group A and 37% for group B (p=0.01). Our study reveals that although UT torsion is an emergency, 72% of patients are referred more than 6h after the onset of symptoms. We mostly found classic clinical presentation of UT torsion: a painful inguinal mass with an empty ipsilateral scrotum. Ultrasound was performed in half cases, and even if the result was not significant, it still seemed to be associated with a higher rate of orchiectomy especially in group B because of the delay in care. However, when ultrasound was realized early, it led to diagnosis in all cases. This dilemma poses the problem of the role of imaging in diagnostic management. Early clinical diagnosis in front of a painful inguinal mass with an empty scrotum is essential to improve the salvage rate of testis in UT torsion. Early management of UT should have avoided 68% of testis loss.

Clinical and Histopathological Evaluations of Testicular Regression Syn-drome: A Case Report

BackgroundTesticular regression syndrome (TRS) is defined as the partial or total absence of testicular tissue in 46XY patients with normal external genitalia. The incidence of TRS has been reported to be less than 5% in patients with cryptorchidism. Herein, we report a case of a one-year old boy who underwent surgical exploration with an initial diagnosis of cryptorchidism.Case descriptiona one-year old male came to the outpatient clinic at Al Emadi Hospital, Doha, Qatar. Physical examination revealed normal external genitalia with palpable right testis and non-palpable left testis. The initial diagnosis was cryptorchidism. Testicular structure was not identified and a presumed testicular remnant in the left superficial inguinal ring was sent for histological examination. The histological examination revealed a fibrovascular nodule, spermatic cord structures, calcification and hemosiderin deposits supporting the diagnosis of TRS.ConclusionWhen patient fulfills clinical and pathological criteria for TRS, we should consider the possibility of orchiopexy and testicular prosthesis implantation to decrease the risk of testicular torsion and negative psychological effects.

Laparoscopic orchiopexy of palpable undescended testes_ experience of a single tertiary institution with over 773 cases

BackgroundDiscuss the superiority of laparoscopic orchiopexy in the treatment of inguinal palpable undescended testes.MethodsInclusion criteria: Preoperative examination and color Doppler ultrasound examination confirmed that the testes were located in the inguinal canal and could not be pulled into the scrotum, except for retractive and ectopic testes. The surgical steps were depicted as follow. The retroperitoneal wall was carved by ultrasonic scalpels, separates the spermatic vessels closed to the inferior pole of the kidney if necessary, dissects the peritoneum of vas deferens, cuts the testicular gubernaculum, and pulls back the testicle into the abdominal cavity. Besides, protect the vas deferens, and descend the testes to the scrotum and fix them without tension.ResultsThere were 773 patients with 869 inguinal undescended palpable testes, 218 cases on the left side, 459 cases on the right side and 96 cases with bilateral undescended testes, whose age ranged from 6 months to 8 years, with an average of 20 months. All testes were successfully operated, no converted to open surgery. The average operation time was (34.8 ± 5.4) min. There were 692 testes have an ipsilateral patent processus vaginalis (89.5%); In 677 cases of unilateral cryptorchidism, 233 cases (34.4%) have a contralateral patent processus vaginalis, and laparoscopic percutaneous extraperitoneal closure the hernia sac carry out during the surgery. There was no subcutaneous emphysema during the operation, no vomiting, no abdominal distension, no wound bleeding and obvious pain after surgery, especially wound infection is rarely. Doppler ultrasound was evaluated regularly after surgery. The patients were followed up for 6 to 18 months. All the testes were located in the scrotum without testicular retraction and atrophy. No inguinal hernia or hydrocele was found in follow-up examination.ConclusionLaparoscopic orchiopexy manage inguinal palpable cryptorchidism is safe and effective, and there are obvious minimally invasive advantages. Furthermore, It could discover a contralateral patent processus vaginalis, and treat at the same time, which avoid the occurrence of metachronous inguinal hernia.

Role of Laparoscopy in Management of Nonpalpable Undescended Testis in Children

Abstract Background Normal testicular descent relies on a complex interplay of numerous factors. Any deviation from the normal process can result in an undescended testis (UDT). UDT is a common abnormality that carries fertility and malignancy implications. Aim of the Work The aim of this study is Evaluation of the role of laparoscopy in diagnosis and management of clinically impalpable testis. Patients and Methods Nineteen male patients were included in this study with twenty two non-palpable testes. All these patients were subjected to diagnostic laparoscopy &amp; the subsequent decision was then based on the laparoscopic finding. There was no age limit for the procedure. The procedure was carried in Ain Shams University teaching hospital and El-mataria teaching hospital. Results The study included nineteen patients with twenty two non-palpable testes. Age at presentation was averaging 18.5 ± 12.5 months. Our study may present convincing evidence that laparoscopy has significant advantage over imaging procedures. Preoperative imaging proved inaccurate in determining testicular position in 10 of the 22 testes (45.5%) this is in agreement with many studies which reported that ultrasonography helped to identify only 45% of non palpable testis. Conclusion This study tried to assess roughly the effectiveness of laparoscopy as a diagnostic tool and treatment of non-palpable undescended testis. This study dealt with a very small number of patients and this issue still needs more researches to study all the benefits and disadvantage and shall need further study on a wide range of patients.

Proximal Hypospadias-Isolated Genital Condition or Marker of More?

The prevalence of endocrine/genetic anomalies in boys with proximal hypospadias is unknown. We describe an endocrine/genetic evaluation for boys with proximal hypospadias to determine who may have a difference/disorder of sex development and/or benefit from additional testing. We retrospectively reviewed boys with hypospadias seen at our hospital between January 2013 and October 2018. Those with proximal (penoscrotal, scrotal, perineal) hypospadias who presented before age 6 months and underwent endocrine/genetic testing were included. Demographics, test results, testicular examination at presentation, comorbidities and diagnoses were abstracted. A total of 1,789 boys with hypospadias were identified. Of 131 boys with proximal hypospadias all 60 who underwent endocrine/genetic evaluation were included. Most of these patients had bilateral palpable testes (52, 86%) that were fully descended (41, 68%). Associated anatomical anomalies were found in 53% of patients. All boys underwent endocrine testing, which was completely typical for a male infant in most (41, 68%). Common genetic tests included karyotyping (100%), microarray (38%) and multigene panel (13%). Genetic anomalies were found in 17 boys (28%), including 7 of 41 (17%) with bilateral descended testes and 10 of 19 (53%) with 1 or more undescended testes (p=0.01). Six of 8 boys with at least 1 nonpalpable testis had a genetic anomaly vs 11 of 52 with bilateral palpable testes (p=0.005). Differences/disorders of sex development were found in 9 patients (15%). Of 60 boys with proximal hypospadias 53% had nongenital anomalies, 28% had genetic anomalies and 15% had a difference/disorder of sex development. Although endocrine testing was clinically useful, genetic testing was most diagnostically revealing. Endocrine/genetic evaluation should be considered for boys with proximal hypospadias.

Surgical access in cryptorchism with a palpable testis: inguinal access

Cryptorchism is one of the most frequent diagnoses in early childhood with an incidence of up to 3 - 8 %. The goal of any treatment is scrotal positioning of the testis until the end of the first year of life to prevent degenerative changes of the testis. This often requires a surgical procedure. The surgical treatment for a palpable testis in the inguinal area is orchidopexy, combined with laparoscopy in case of a non-palpable testis. Orchidopexy can be done via inguinal or scrotal access with inguinal access being the gold standard.

EFFICACY OF LAPAROSCOPY IN THE MANAGEMENT OF UNILATERAL NONPALPABLE TESTIS

Background:Undescended testis is one of the most common malformations seen in the field of pediatric surgery. The most problematic aspect of undescended testis is the diagnosis and treatment of nonpalpable testis. Laparoscopy has been widely used for the diagnosis and treatment of nonpalpable testis. Objective:To evaluate the role of laparoscopy in the diagnosis and treatment of unilateral nonpalpable undescended testis. Methods:This is a prospective study carried out in the period from December 2012 to December 2017 in the Pediatric Surgery Department of a tertiary hospital in Baghdad. We used laparoscopy in the diagnosis and treatment of 40 patients aged between one and 12 years (median age 4.9 years) with unilateral nonpalpable undescended testis. Boys with a palpable testis at any point were excluded from the study. Surgical procedure was individualized according to the laparoscopic findings either by one stage laparoscopic orchiopexy, two stage Fowler-Stephens procedure or laparoscopic orchiectomy. Results:Laparoscopy was able to diagnose the site of the nonpalpable testes in all the patients. Out of 40 nonpalpable undescended testes, 26 testes (65%) were intra-abdominal (12 testes were low intra-abdominal, 14 testes were high intra-abdominal). In 9 patients, (22.5 %), the vas deferens and spermatic vessels were found entering the internal inguinal ring. In 3 patients, (7.5 %), the testes were vanishing, and the testes were absent in 2 patients (5%). All patients with low intra-abdominal testes (n=12) were subjected to one stage laparoscopic orchiopexy through the normal inguinal ring. Out of 14 patients with high intra-abdominal testes, 7 patients underwent two staged Fowler-Stephens laparoscopic procedures, while three patients were treated by laparoscopic Prentiss maneuver and the remaining 4 patients underwent immediate laparoscopic orchiectomy due to presence of an atrophied testis. Patients with the vas deferens and spermatic vessels entering the internal inguinal ring (n=9) were treated by orchiopexy via conventional inguinal approach. Conclusion:Laparoscopy for unilateral nonpalpable testis has an excellent diagnostic yield combined with high success rate following repair. Keywords:Laparoscopy, nonpalpable undescended testis, Fowler-Stephens procedure Citation:Zain AZ, Mohammed NH, Fadil SZ, Abdul-Hassan BA. Efficacy of laparoscopy in the management of unilateral nonpalpable testis. Iraqi JMS. 2019; 17(3&amp;4): 223-230. doi: 10.22578/IJMS.17.3&amp;4.9

Staged laparoscopic traction orchidopexy for impalpable testes: a preliminary study

Laparoscopy is the gold standard to assess for presence of an intra-abdominal testis. However, techniques for the subsequent orchidopexy vary, and include the recently described staged laparoscopic traction orchidopexy (SLTO) (Shehata in Pediatr Surg 51(2):211–215, 2016). SLTO enables elongation of the testicular vessels without division, with initial success rates reportedly superior to Fowler–Stephens. We present the first UK data following a preliminary study using SLTO. 19 boys prospectively presenting with 22 intra-abdominal testes (IAT) underwent STLO in a single centre, with a median age of 2.5 years (IQR 1.4–5.2) at first stage. 3/19 (16%) boys had bilateral IAT and nine (41%) were left-sided. Pneumoperitoneum was established using 5 mm umbilical and 3 mm accessory ports in bilateral iliac fossae. The gubernaculum and lateral peritoneal attachments were divided prior to securing the intra-abdominal testis to the contralateral anterior abdominal wall with 2/0 Ti-cron™. Second-stage procedures were planned for 3–6 months later. The securing stitch was cut; an 11 mm STEP port was placed trans-scrotally to retrieve the testis and secured in a sub-dartos pouch. Outcome measures included palpable testes in the scrotum and surgical complications. 13/22 IAT have undergone follow-up. Twelve (92%) IAT were palpable in the scrotum following SLTO. There was one diathermy-related bladder injury necessitating laparoscopic repair, and 3/22 (13.6%) slipped sutures, requiring repeat first-stage procedures. Staged laparoscopic traction orchidopexy is a feasible technique, which can be performed as an alternative to Fowler–Stephens procedure, with potentially better outcomes for the testis. The complications described should be preventable as the technique evolves.

Scrotal orchidopexy for palpable undescended testis

Undescended testis is the most common genitourinary disorder during childhood. The traditional inguinal approach still represents the standard technique to correct undescended testis. However, over the last decades a large number of studies have shown that the scrotal approach has a lower morbidity rate and significantly shorter operation times and offers a good cosmetic result as well as an equal surgical treatment result, which makes it a good alternative to the traditional inguinal approach in gliding and low palpable testis.

Laparoscopic management of non-palpable un-descended testes: our experience

Background: The purpose of the study was to determine the sensitivity and specificity of laparoscopy in localizing non-palpable testes, its therapeutic role, mean operative time, conversion rate, complications and hospital stay.Methods: A total of 52 patients were included in the study and was conducted from June 2012 to June 2017. These boys were examined as outpatients, at the time of admission and after general anesthesia to exclude palpable testes and were subjected to diagnostic and operative laparoscopy.Results: We identified 52 patients with 66 non palpable un-descended testes. The most common age of presentation was 1-4 years. Majority of patients i.e. 27 were on the left side. Ultra-sound identified testis &gt;2 cm from deep inguinal ring in 20, near deep ring &lt;2 cm in 20 and at inguinal canal in 6 patients. In the diagnostic laparoscopy, high intra-abdominal testis found in 34, low intra-abdominal testis in 24, blind ending of vas and vessels in 2 patients. The operative procedures performed are diagnostic laparoscopy, laparoscopic orchidopexy, laparoscopic orchidectomy, conversion to open orchidopexy and open orchidectomy. The mean operative time was 53.67±2.37 for unilateral and 102.76±5.38 for bilateral cases. The postoperative complications include surgical emphysema, wound infection and scrotal haematoma. The mean hospital stay was 14.23±2.37 hours for unilateral and 16.27±5.38 hours for bilateral.Conclusions: Laparoscopic orchidopexy appears to be a feasible, minimally invasive, less postoperative pain and trauma, faster convalesce and return to normal activity and an effective technique for the management of low intra-abdominal testes.

SAT-213 Late Diagnosis of Complete Androgen Insensitivity

BACKGROUND: Complete androgen insensitivity (CAIS) is a rare cause of primary amenorrhea and is usually diagnosed in menarche. Patients with CAIS are phenotypically female with a 46, XY karyotype, have elevated testosterone, LH, and FSH levels, and have little or no virilization due to androgen receptor gene mutations. The recommended treatment is orchiectomy due to the increased risk of gonadal malignancy and post-operative hormonal therapy. CLINICAL CASE: A 31-year-old female with no past medical history presented for evaluation of primary amenorrhea. She was born full term with a normal IQ, and no developmental delays or disabilities. The patient had no menstrual periods, minimal breast development, and sparse facial, axillary, and pubic hair growth. She reported having a shallow vaginal canal and absence of a cervix. All of her siblings had normal sexual development with no reproductive or gynecological disorders, and have been able to conceive without any problems. Review of systems was negative for vision changes, galactorrhea, abdominal pain, urinary or defecation problems however positive for headaches. Patient identified as a lesbian. On physical exam the patient had normal vital signs, height of 164 cm and 86 kg (calculated BMI 32); increased muscular tone; no voice deepening; no abdominal pain; sparse hair in the pubic region, upper lip, chin, and bilateral axillae; and Tanner stage 2 breasts. Genitourinary exam was notable for large labia majora, clitoromegaly, palpable testes in inguinal canal, blind vaginal pouch, and absent uterus and cervix. Labs showed normal estradiol (17pg/mL; male 5-52pg/mL), elevated testosterone (273ng/dL; male 249-836ng/dL, female <45ng/dL), LH (24.5 mIU/mL; male 1.7-8.6mIU/mL), and FSH (39.3mIU/ml; male 1.5-12.4mIU/mL), negative urine pregnancy test, normal prolactin, normal thyroid function tests, and a 46, XY karyotype. Imaging demonstrated absent uterus and ovaries, a short blind-ending vagina, and bilateral testes in the inguinal canals. Given elevated FSH, LH and testosterone levels with virilization, the patient was diagnosed with CAIS and underwent bilateral orchiectomy. After surgery, the patient was started on estrogen hormonal replacement therapy. CONCLUSION: Early diagnosis of CAIS is important as this helps guide pharmacotherapies, surgery, malignancy surveillance, genetic counseling, and psychosocial support; all of which help determine a patient’s sexual identity. This case is interesting because the patient was diagnosed far past menarche in her fourth decade, which proved to be psychologically distressing given the patient was unaware of the presence of testes. As androgen insensitivity syndrome presents on a spectrum and any intervention is dependent on phenotype and patient preference, further research is needed to provide evidence-based guidelines regarding therapeutic intervention in any patient with CAIS.

MON-518 Osteoporosis in a Young Adult with Trisomy 13

Background: Trisomy 13 is associated with multiple congenital anomalies, including cleft lip/palate, microcephaly, polydactyly, rocker bottom feet, iris coloboma, holoprosencephaly, seizures, heart defects, kidney malformations, respiratory distress, and feeding difficulties (1). It affects approximately 1 in 12,000 live births, and median survival time is 7-10 days, with a 5-year survival of 9.7%, although a few reports exist of survival into the second decade (2). Clinical Case: A 20-year-old male with trisomy 13 presented to endocrinology clinic for evaluation of osteoporosis. He was diagnosed with trisomy 13 by prenatal amniocentesis, confirmed by karyotype after birth. He has a history of Dandy-Walker malformation, holoprosencephaly, severe developmental delay, ventricular septal defect, dextrocardia, partial situs inversus, omphalocele, cleft lip and palate, pancreatitis, malposition of the duodenum, neurogenic bladder, gastrostomy tube dependence, left iris coloboma, scoliosis, and wheelchair dependence since age 12. Parents reported that he had no history of thyroid or adrenal dysfunction. He briefly received growth hormone injections, but these were stopped by the parents. On physical exam, he had buried micropenis and one palpable testis, 3-4 mL. DXA scan showed severe reduced bone mineral density of the lumbar spine (L1-L4) with Z score of -9.6. Radiography of the spine revealed compression deformities of thoracic vertebrae 3, 4, and 11. Serum calcium was 9.7 mg/dL (8.4 - 10.2 mg/dL), and phosphorus level was 4.8 mg/dL (3.1 - 5.6 mg/dL). Vitamin D level was 48.2 ng/ml (30.0 - 70.0). The patient had a low-trauma fracture of the left foot in 2011. MRI of the brain showed a grossly normal appearing pituitary gland. Laboratory studies were obtained, including TSH 2.270 mcIU/mL (0.358 - 3.740 mcIU/mL); free T4 1.44 ng/dL (0.80 - 2.00 ng/dL); LH 0.104 IU/L (1.5 - 9 IU/L); FSH 0.974 IU/mL (2.0 - 9.2 IU/mL); total testosterone <2.5 ng/dL (264 - 916 ng/dL); free testosterone <0.2 pg/mL (52-280 pg/mL); IGF-1 64 ng/mL (281-510 ng/mL); IGF-BP3 antibody 3.62 mg/L (2.72 - 6.36 mg/L). The patient had multiple risk factors for osteoporosis, including hypogonadism, growth hormone deficiency, and non-ambulatory status. He was prescribed testosterone cypionate. Follow up was planned for 4 months after the initial visit. Conclusion: Our case reporting osteoporosis in Trisomy 13 is unique, with no other case reports describing this syndrome found in the literature. This is likely due to his unusual prolonged survival.

Testis-sparing surgery for testicular masses: current perspectives.

Males who present with a palpable testis nodule are likely to have malignant germ cell tumor in >90% of cases. Therefore radical orchiectomy remains the standard of care for intratesticular tumors. However, due to the recent developments of high-frequency probes in ultrasonography, the incidence of detecting a small non-palpable testis tumor is higher and higher. These lesions are thought to be benign in more than 60-80% of cases, thus a radical orchiectomy should be considered an overtreatment. In addition to that, radical orchiectomy might cause infertility, psychological issues and endocrine disorders, hence an organ-sparing procedure in such cases should be pursued. Only fourteen reliable retrospective studies met the inclusion criteria. No prospective randomized trials have appeared in Medline database. This review of the current literature has confirmed the safety and efficacy of testicular-sparing surgery in selected patients: 1) monorchid patients; 2) bilateral testis masses; 3) normal patients with a small, non-palpable masses detected with US, as long as the dimension of the lesion is up to 3 cm and not greater that 30% of the total volume of the organ. According to the literature, testis sparing surgery is a safe and feasible procedure for patients presenting a benign small testis mass. The enthusiasm found in the literature should however be tempered as the small number of patients reported in the studies coupled with the absence of a prospective trial represent important limits that need to be overtaken. Therefore more robust and well-designed studies are needed.

Surgery for no palpable testis before the age of one year: a risk for the testis?

Surgery for undescended testisis now commonly recommended before the age of one year. However, the risk of testicular atrophy or miss location after surgery at a young age has not been clearly evaluated. The objective of this study is to evaluate the rate of testicular atrophy after surgery for non-palpable testis before the age of one year. Fifty-five patients operated between 2005 and 2014 for non-palpable testes were reviewed for clinical and ultrasound (US) evaluation. Median follow-up after surgery was of 68.5 months (range 26-130 months). The median age at surgery was ofmonths (5-12 months). Eight patients (14.5%) had bilateral non-palpable testis; thus, 63 testes were evaluated. At surgery, 38 (60%) testes were located in the high inguinal canal; 25 (40%), in the abdominal cavity. Orchiopexy was performed with preservation of the testicular vessels for 58 testes. Fowler-Stephens (FS) procedure was performed for 5 testes. Testicular location was clinically evaluated, and testicular volume was measured using a standard sonogram technique in our pediatric radiology department. Ratio comparing the volume of the descended testis to the spontaneously scrotal located testis was calculated in unilateral forms. After surgery, testes had scrotal location in 62 cases and inguinal location in one case. Seven cases of atrophy were confirmed after US control (11%), more frequently (odds ratio, OR 11.68 [1.9-72.5]) in abdominal testis (24%) than in inguinal testis (2.6%). Atrophy testicular was more frequent with FS technique (OR 7.1 [1.3-40.1]), but the population was weak (N=5). Median volume ratio for unilateral form was 0.88 [0-1.8]; 14 patients presented a ratio greater than 1. The influence of the young age at surgery and the risk of post operative testicular atrophy had not been clearly evaluated. The term of 'no palpable testis' supports an heterogeneous group mixing abdominal and extra-abdominal testis sharing a uniform clinical presentation. Our rate of atrophy in the group of abdominal testes (24%) and inguinal testes (2.6%) is similar to the literature, which concerns older patients. The long-term sonogram assessment demonstrated a good development of the testis after surgery, especially in inguinal cases. Surgery for no palpable testis before the age of one year does not lead to a superior risk of testicular atrophy compared with surgery at an older age and allows a good development of the testis.

Human chorionic gonadotrophin hormone for treatment of congenital undescended testis: Anatomical barriers to its success

Background/PurposeAlthough the surgical treatment was proved to be the recommended line of management for congenital undescended testis, hormonal therapy with human chorionic gonadotrophin hormone has been started long years ago and is still used in some areas with variable degrees of success. The factors responsible for treatment failure are not well explored. In this study, we aimed to highlight the anatomical abnormalities in the congenital undescended testis that might contribute to treatment failure. MethodsDuring the period from January 2014 to December 2015, 75 boys with congenital undescended testes received treatment with human chorionic gonadotrophin, in pediatric surgery department, Faculty of medicine, Ain Shams University. Their age ranged between 6 months and 4 years (mean 1.6 years, median 2 years). In 70 boys, the testes were palpable and in the remaining 5 boys, the testes were impalpable. Fifty boys had unilateral and 25 had bilateral undescended testes. Seven of the palpable testes were high scrotal in position and the remaining 83 were palpated in the inguinal canal. The patients were followed up for 6 months to determine the position of the testis after the treatment and surgical intervention was done for those who did not respond to the hormonal treatment either partially or completely. ResultsOnly 7 testes showed complete descent (7%) (2 bilateral and 3 unilateral) and they were initially high scrotal in position, 8 testes showed partial descent (8%) (2 bilateral and 4 unilateral) and they were inguinal in 6 which became high scrotal and impalpable in 2 which became peeping. The remaining 85 (85%) did not respond to the hormonal treatment. Upon surgical exploration, abnormal attachment of the gubernaculum was found in 83 testes (83%), 2 testes were peeping (2%), short testicular vessels were found in 4 testes (4%), 3 testes were vanishing (3%) and a closed internal ring was found in one testis (1%). ConclusionsTreatment of congenital undescended testis with human chorionic gonadotrophin hormone had low success rates. Anatomical abnormalities in the congenital undescended testis might contribute to this treatment failure. Type of the studyClinical research paper. Level of evidencelevel III.