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Asian J Androl 2022 Jun 10. Epub 2022 Jun 10.

Department of Ultrasound, Zhongshan Hospital, Fudan University, Institute of Ultrasound in Medicine and Engineering, Shanghai 200032, China.

The purpose of this study was to evaluate the diagnostic performance of multiparametric ultrasound (mpUS; grayscale US, color Doppler US, strain elastography, and contrast-enhanced US) in the assessment of testicular lesions with negative tumoral markers. MpUS imaging data, patient age, serum tumor markers, scrotal pain, cryptorchidism, and related clinical information were retrospectively collected for patients who underwent mpUS examination between January 2013 and December 2019. Histologic results or follow-up examinations were used as the reference standard. Read More

Case Rep Vet Med 2022 26;2022:5516633. Epub 2022 Apr 26.

Gila River Veterinary Services, LLC, 1868 S 232nd Ln, Buckeye, AZ 85326, USA.

Purpose: To describe the pathology and imaging findings in two neonatal piglets with congenital limb deformities.

Methods: The litter from a second parity crossbred sow presented with four mummified fetuses, three stillborn piglets, and two live piglets with notable limb deformities that were unable to effectively ambulate. The piglets were euthanized and submitted for gross and histological evaluation. Read More

Can Vet J 2022 05;63(5):515-520

Department of Surgical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Wisconsin, USA (Slaughter, Eitzer, Tolliver, Holman, Colopy, Hoey, Loeber); School of Veterinary Medicine, University College Dublin, Ireland (Hoey).

A 14-week-old male unilaterally cryptorchid Clumber spaniel was presented for acute lethargy. Physical examination revealed abdominal pain, and a single testis was palpated in the scrotum. Abdominal ultrasound and computed tomography (CT) revealed a poorly vascularized, ovoid structure immediately caudal to the left kidney with scant regional peritoneal effusion. Read More

Clin Nucl Med 2022 Jul 29;47(7):e496-e497. Epub 2022 Apr 29.

From the Departments of Nuclear Medicine.

Abstract: Doppler ultrasonography and testicular scintigraphy are sensitive techniques to detect the adequacy of blood flow to testicular tissue. Because Doppler ultrasonography is an operator-dependent imaging modality, it can result in equivocal findings. Testicular scintigraphy proves to be more accurate in such cases, but it may be inconclusive on occasion. Read More

Einstein (Sao Paulo) 2022 20;20:eAO6605. Epub 2022 Apr 20.

Hospital de Clínicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.

Objective: To assess testicular volumes and sexual maturation in patients with testicular torsion.

Methods: A retrospective analysis of consecutively treated patients with testicular torsion between 2016 and 2018. Age, pubic hair staging (Tanner), and by ultrasonography, volume of the unaffected testis (in cubic centimeters) were evaluated either immediately before surgery or at the first postoperative visit. Read More

Int J Surg Case Rep 2022 Apr 9;93:106923. Epub 2022 Mar 9.

Department of Oncology, Aga Khan University, Karachi, Pakistan.

Introduction And Importance: The neoplasms of the testis are sporadic tumors among men. Furthermore, the rarest subset of these is neoplasms belonging to the stromal tumors of the sex cord. Leydig cell tumors are the most common form among the testicular stromal tumors. Read More

Semin Ultrasound CT MR 2022 Feb 16;43(1):115-129. Epub 2021 May 16.

Department of Radiology, LeBonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN. Electronic address:

Ultrasonography (US) is the primary imaging modality for the evaluation of pediatric scrotal disease. The ability to obtain exceptional anatomical detail and testicular perfusion information without ionizing radiation makes it the essential tool for evaluating scrotal pain and palpable masses. Challenges arise in both the performance and interpretation of scrotal US in the child. Read More

J Pediatr Surg 2022 Jul 15;57(7):1293-1308. Epub 2022 Jan 15.

Division of Pediatric Surgery, BC Children's Hospital, University of British Columbia, Vancouver, BC, United States.

Purpose: Management of undescended testes (UDT) has evolved over the last decade. While urologic societies in the United States and Europe have established some guidelines for care, management by North American pediatric surgeons remains variable. The aim of this systematic review is to evaluate the published evidence regarding the treatment of (UDT) in children. Read More

BMC Med Genomics 2022 02 3;15(1):19. Epub 2022 Feb 3.

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation.

Case Presentation: We present an 8-year-old Chinese patient with congenital hypopituitarism who had a 6. Read More

Ann Med Surg (Lond) 2022 Jan 18;73:103161. Epub 2021 Dec 18.

Department of Internal Medicine, Hamad Medical Corporation, Doha, Qatar.

Background: Cryptorchidism, undescended testes, is a pathological condition that is due to failure of descent of testes in the scrotum. This study was aimed to determine the diagnostic accuracy of diffusion-weighted magnetic resonance imaging (DW-MRI) in localization of undescended testes taking laparoscopic findings as the gold standard.

Methods: A cross-sectional study was conducted in the radiology department of a tertiary care hospital from September 27, 2018 to September 26, 2019. Read More

Genes (Basel) 2022 01 17;13(1). Epub 2022 Jan 17.

Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder of sexual development in males, defined by the presence of Müllerian remnants with otherwise normal sexual differentiation. Mutations in anti-Müllerian hormone () and AMH receptor type 2 () genes are the main causes of PMDS. In this study, we performed molecular genetic analysis of 11 unrelated cryptorchidism patients using whole-exome sequencing and classified the variants. Read More

Urology 2022 Jun 15;164:241-243. Epub 2022 Jan 15.

Pathology Department. Complejo Hospitalario de Navarra. Pamplona, Navarra, Spain. Electronic address:

Crossed testicular ectopia (CTE) is an extremely rare anomaly of urogenital development. The etiopathogenic mechanism is unknown. Medical records of two biological siblings with a confirmed diagnosis of CTE being managed at our center were collected. Read More

Cir Pediatr 2022 Jan 1;35(1):25-30. Epub 2022 Jan 1.

Pediatric Surgery Department. Miguel Servet University Hospital. Zaragoza (Spain). Healthcare Research Institute of Aragon (IIS Aragón). (Spain).

Objective: To determine the impact of orchiopexy on testicular volume. To determine whether age at surgery impacts testicular volume. To determine whether paternity is associated with testicular volume. Read More

Ultrasound Q 2022 Jan 7. Epub 2022 Jan 7.

Northeastern Ohio Medical University, Rootstown Northeast Ohio Urology Associates, Boardman Southwoods Imaging, Youngstown, OH.

Abstract: Polyorchidism, a very rare congenital anomaly, refers to the presence of more than 2 testes. It is often associated with many other pathologies including cryptorchidism, varicocele, testicular malignancy, and inguinal hernias.In this report, we describe a 40-year-old man who presented with an intermittently painful left groin, initially appearing as inguinal hernia. Read More

J Reprod Infertil 2021 Jul-Sep;22(3):216-219

- Department of Urology, Grant Government Medical College and Sir JJ Hospital, Mumbai, India.

Background: Persistent mullerian duct syndrome (PMDS) is a very rare form of internal male pseudohermaphroditism in individuals who are phenotypically males with 46 XY karyotypes harboring internal female reproductive organs which are Mullerian derivatives. It occurs as a defect in the genes coding for the Mullerian inhibiting substance (MIS) or the anti Mullerian hormone (AMH) receptor, ultimately leading to failure of regression of Mullerian ducts.

Case Presentation: A 29-year-old male with PMDS presented with complaints of primary infertility. Read More

Cureus 2021 Nov 13;13(11):e19520. Epub 2021 Nov 13.

Department of Urology, Caddi Ayyad University of Marrakech, Ibn Sina Military Hospital, Marrakesh, MAR.

Abdominoscrotal hydrocele (ASH) is an uncommon congenital anomaly in which a scrotal hydrocele extends to the abdomen through the inguinal canal in an hourglass fashion. Coexisting undescended testes (UDT) have mainly been reported in pediatric populations and are mostly located along the inguinal canal. We present a 66-year-old male with a history of neglected left cryptorchidism, who presented with a progressive ipsilateral inguino-scrotal swelling suggesting indirect inguinal hernia. Read More

Arch Sex Behav 2022 May 16;51(4):2353-2357. Epub 2021 Nov 16.

Department of Endocrinology and Nutrition of the University Hospital Virgen del Rocío, Muro de los Navarros Street, Apt. 40, Door 12, 41013, Seville, Spain.

We present the case of a patient with female sex assignment at birth whose parents consulted with a pediatrician when the child was 12 years old, indicating that despite female sex assignment, she felt that she (henceforth "he") had a male gender identity and was gynephilic. Medical examination revealed a 46XY karyotype, a primary amenorrhea and an appropriate testosterone increase after HCG stimulation test. The patient was diagnosed then with a 46,XY disorder of sex development with androgen insensitivity syndrome, but then he missed subsequent appointments. Read More

J Pediatr Urol 2021 Dec 12;17(6):835.e1-835.e6. Epub 2021 Oct 12.

Pediatric Surgery, Inner Mongolia Maternal and Child Health Care Hospital, Huhehaote, Inner Mongolia, 010020, China. Electronic address:

Introduction: It is still controversial whether the frenum of testis should be retained in laparoscopic testicular fixation.

Materials And Methods: It is a prospective experiment to study testicular preservation on testicular growth in children with high cryptorchidism.

Results: From January 2018 to June 2020, 120 children with high cryptorchidism in Inner Mongolia Maternal and Child Health Care Hospital and The Fourth Hospital of Baotou were randomly divided into retention group (60 cases in group P, aged 1-3 years, average 1. Read More

Med J Aust 2021 Dec 22;215(11):528. Epub 2021 Oct 22.

Sydney Adventist Hospital, Sydney, NSW.

Childs Nerv Syst 2022 Jun 10;38(6):1195-1199. Epub 2021 Oct 10.

Department of Neurology, University Hospital "12 de Octubre", Madrid, Spain.

Moyamoya angiopathy, a rare cerebrovascular condition, can be primary (moyamoya disease) or secondary (moyamoya syndrome). Genetic factors, such as the ring finger protein 213 (RNF213), have been associated with moyamoya disease. However, X-linked moyamoya angiopathy/moyamoya syndrome and hypergonadotropic hypogonadism associated with moyamoya syndrome are rare. Read More

Mol Cytogenet 2021 Oct 4;14(1):47. Epub 2021 Oct 4.

Federal State Budgetary Research Center of Virology and Biotechnology "VECTOR", Federal Service for Surveillance on Consumer Rights Protection and Human Well-being (FBRI SRC VB "VECTOR", Rospotrebnadzor), Novosibirsk Region, Koltsovo, Russia, 630559.

Background: There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra maternally derived copy of the Prader-Willi/Angelman critical region. Trisomy 9p is the fourth most frequent chromosome anomaly with a clinically recognizable syndrome often accompanied by intellectual disability. Read More

Natl Med J India 2021 Mar-Apr;34(2):68-72

Department of Medical Oncology, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata 700160, West Bengal, India.

Background: . Seminomatous germ cell tumour (SGCT) is a rare but curable malignancy of young adults. The literature on management and outcome of SGCT is scarce from India. Read More

Andrology 2022 02 27;10(2):262-269. Epub 2021 Sep 27.

DEFE, Univ Toulouse, Université Toulouse III, Paul Sabatier, INSERM, Toulouse, France.

Background: Congenital unilateral absence of vas deferens has been diagnosed in fertile and normozoospermic males and is associated with the risk of unilateral renal absence or cystic fibrosis transmembrane conductance regulator mutations; but no prediction model currently exists to diagnose this condition.

Objectives: The study aims to identify clinical and biological variables that may have a predictive value for the diagnosis of congenital unilateral absence of vas deferens in male partners of infertile couples MATERIALS AND METHODS: We designed a retrospective, cross-sectional, case-control study on electronic health records of a single tertiary-care andrological centre collected between 1998 and 2018. We included all subjects diagnosed with congenital unilateral absence of vas deferens using combined scrotal and transrectal ultrasounds. Read More

Mol Genet Genomic Med 2021 10 4;9(10):e1801. Epub 2021 Sep 4.

State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Background: Persistent Müllerian duct syndrome (PMDS) is defined as the presence of Müllerian duct derivatives in an otherwise normally virilized 46, XY male. It is usually caused by homozygous or compound heterozygous mutations in either the anti-Müllerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. The main purpose of the study is to determine the novel mutations of AMHR2 in PMDS patients and their intracytoplasmic sperm injection outcomes (ICSI). Read More

Case Rep Urol 2021 12;2021:7577632. Epub 2021 Aug 12.

Department of Urology, Dentistry and Pharmaceutical Sciences, Okayama University Graduate School of Medicine, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan.

Persistent Müllerian duct syndrome can cause an inguinal hernia, although this is a rare occurrence; recurrent inguinal hernias can, in turn, cause ongoing groin pain. Management of groin pain plays an important role in patients' quality of life. We present our experience with a 43-year-old man who had a 2-week history of left-sided groin pain. Read More

J Pediatr Urol 2021 Oct 8;17(5):733.e1-733.e8. Epub 2021 Jul 8.

Edmond and Lily Safra International Neuroscience Institute (IIN-ELS) - Alberto Santos Dumont Education and Research Institute (ISD), Macaíba, RN Brazil; Anita Garibaldi Center for Education and Research in Health (CEPS) - Alberto Santos Dumont Education and Research Institute (ISD), Macaíba, RN Brazil.

Introduction: Children with Congenital Zika Syndrome (CZS) present structural cortical changes that may compromise the integrity of their connections with urinary and digestive systems, causing bowel and bladder dysfunctions.

Objective: To evaluate bladder and bowel dysfunction (BBD) in children with CZS.

Study Design: This is an observational cross-sectional study of a series of CZS cases. Read More

Transl Pediatr 2021 Jun;10(6):1748-1754

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Arboleda-Tham syndrome (OMIM#616268) is a newly named neurodevelopmental disorder, which is an autosomal dominant hereditary disease characterized by genetic variants. The clinical manifestations include global developmental delay, primary microcephaly, and craniofacial dysmorphism, as well as more varied features such as feeding difficulties, cardiac defects, and ocular anomalies. Currently, due to restricted knowledge of Arboleda-Tham syndrome and less specific pathological manifestations, it is difficult to diagnose at the early stages of the disease. Read More

Cir Pediatr 2021 Jul 1;34(3):160-163. Epub 2021 Jul 1.

Pediatric Surgery Department. Parc Taulí University Hospital, Sabadell, Barcelona (Spain).

Polyorchidism or testicular duplication is defined as the histologically confirmed presence of more than two testes. This is the case of a full left testicular duplication in an 11-year-old patient presenting with occasional pain in the left hemiscrotum. At physical exploration, a palpable scrotal mass was detected. Read More

Top Companion Anim Med 2021 Nov 27;45:100554. Epub 2021 Jun 27.

IAMB Mediterranean Agronomic Institute of Bari, Bari, Italy.

Anorchia is a rare and often poorly understood disorder of sexual development. In the present case report, we used a multidisciplinary approach to diagnose a case of anorchia in a 30-month old dog. The diagnostic process began with gathering the dog medical history followed by a clinical visit with the patient, which included a general wellness examination as well as an examination of the genital system. Read More

Surgeon 2021 Jun 12. Epub 2021 Jun 12.

Department of Urology, Cork University Hospital, Wilton, Cork, Ireland.

Introduction: Undescended testis (UDT) is a clinical diagnosis and a common reason for referral to paediatric urology outpatients. Our aim was to assess current referral patterns at our unit and to identify predictive factors that may better aid primary care physicians (PCP) in diagnosing UDT based on history and physical exam.

Methods: A retrospective analysis of referrals to outpatients from 2014 to 2016 was performed to assess current referral patterns including referral source, age, reason for referral and outcome following assessment by a single consultant paediatric urologist. Read More