Search Our Scientific Publications & Authors

Endocr Connect 2021 Jun 16;10(6):620-629. Epub 2021 Jun 16.

Institute Pasteur, Rue Dr Roux, Paris, France.

Objective: Disorders of sex development (DSD) are defined as congenital conditions in which the development of chromosomal, gonadal and anatomical sex is atypical. Despite wide laboratory and imaging investigations, the etiology of DSD is unknown in over 50% of patients.

Methods: We evaluated the etiology of DSD by whole-exome sequencing (WES) at a mean age of 10 years in nine patients for whom extensive evaluation, including hormonal, imaging and candidate gene approaches, had not identified an etiology. Read More

Front Pediatr 2021 22;9:627281. Epub 2021 Apr 22.

Paediatric and Adolescent Endocrinology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains challenging. Newborns with 46,XY DSD may present with several phenotypes ranging from babies with atypical genitalia or girls with inguinal herniae to boys with micropenis and cryptorchidism. Read More

Viruses 2021 04 1;13(4). Epub 2021 Apr 1.

Pós-Graduação em Ciências da Saúde, Universidade de Pernambuco, Recife 50100-010, Brazil.

This cohort profile aims to describe the ongoing follow-up of children in the Microcephaly Epidemic Research Group Paediatric Cohort (MERG-PC). The profile details the context and aims of the study, study population, methodology including assessments, and key results and publications to date. The children that make up MERG-PC were born in Recife or within 120 km of the city, in Pernambuco/Brazil, the epicentre of the microcephaly epidemic. Read More

Urol Case Rep 2021 Jul 12;37:101626. Epub 2021 Mar 12.

Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee St., Charlottesville, VA, USA, 22908.

Testicular prostheses are utilized to improve cosmetic outcomes and reduce the psychological impact of native tissue loss particularly related to trauma, neoplasm, or malignancy. Implant rupture is usually related to trauma and spontaneous prosthesis rupture is a rare event. We report a case of an incidental spontaneous rupture in an asymptomatic patient status post orchiectomy and silicone gel filled prosthesis insertion for left cryptorchidism. Read More

Front Cell Dev Biol 2021 3;9:631428. Epub 2021 Mar 3.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Background: X-linked intellectual disability (XLID), which occurs predominantly in males, is a relatively common and genetically heterogeneous disorder in which over 100 mutated genes have been reported. The gene at Xp11.23 encodes ovarian tumor deubiquitinase 5 protein, which is a deubiquitinating enzyme member of the ovarian tumor family. Read More

J Pediatr Surg 2021 Feb 12. Epub 2021 Feb 12.

Douglas Stephens Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.

Purpose: It has been suggested that follicle-stimulating hormone (FSH) plays a role in preventing germ cell apoptosis. We aimed to compare apoptotic rate of boys with cryptorchidism having different levels of FSH in order to investigate its role in apoptosis.

Methods: Hormonal profiles and testicular biopsies from 30 boys with unilateral cryptorchidism (age range: 4-14 months) were included. Read More

Curr Urol 2020 Dec 18;14(4):211-218. Epub 2020 Dec 18.

Center for Reproductive Endocrinology and Infertility, Hue, Vietnam.

Objective: Scrotal ultrasound is not a routine investigation in the clinical approach to male infertility analysis. This study aims to identify the role of testicular Doppler ultrasound in male infertility assessment and its relation to semen parameters in non-azoospermic men.

Methods: Cross-sectional descriptive analysis of 558 men from infertile couples were examined at the Hue Center for Reproductive Endocrinology and Infertility, Hue University Hospital from June 2016 to May 2018. Read More

Clin Imaging 2021 Jun 14;74:106-122. Epub 2021 Jan 14.

Department of Medical Imaging, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Testicular ultrasound (US) studies are nowadays widely performed as being readily available, cost effective with no side effects. Testicular ultrasounds are ordered to help in the diagnosis of various conditions, but more specifically, in cryptorchidism. Other reasons for conducting testicular ultrasonography include testicular pain to confirm presence of epididymitis or orchitis. Read More

Nihon Hinyokika Gakkai Zasshi 2020 ;111(1):30-33

Department of Urology, Osaka University Graduate School of Medicine.

A 32-year-old Japanese man was referred to our hospital with a chief complaint of the delayed puberty with having been aware of it since he was in his teens. Physical examination demonstrated the small penis, the impalpable left testis, and the atrophic right testis in the scrotum. Abdominal magnetic resonance imaging showed the left testis of 8 mm in the external inguinal ring. Read More

Br J Radiol 2021 Mar 7;94(1119):20200624. Epub 2021 Jan 7.

Department of Radiology, The People's Hospital of Longhua, The Affiliated Hospital of Southern Medical University, Shenzhen 518109, China.

Objectives: Diffusion-weighted imaging signal contrast can be quantified by apparent diffusion coefficient (ADC) maps, which reflect the diffusion properties of the examined tissue and are helpful for identifying pathology. To determine ADC values of cryptorchid testes in post-pubertal patients and assess performance for characterizing cryptorchid testes.

Methods: The medical records from 35 patients with unilateral scrotal vacuity were retrospectively reviewed. Read More

Int J Surg Case Rep 2020 27;77:778-781. Epub 2020 Nov 27.

Mohamed VI University Hospital, Oujda, Morocco; Faculty of Medicine and Pharmacy, Mohamed Ist University, Oujda, Morocco.

Introduction: Persistent Mullerian duct syndrome is a rare form of pseudohermaphroditism, possibly resulting from the absence of Mullerian duct inhibiting factor.

Presentation Of Case: We report the case of a 36 year-old patient with a syndrome of persistent Müllerian ducts (PMDS) of the female type. The Clinical examination revealed avacant scrotum, a normal penis. Read More

J Pediatr Urol 2021 04 8;17(2):191.e1-191.e6. Epub 2020 Dec 8.

Sorbonne Université, Department of Pediatric Surgery, APHP Hôpital Armand Trousseau, 26 Avenue du Dr Arnold Netter, 75012, Paris, France. Electronic address:

Introduction: Torsion of an undescended testis (UT) is a surgical emergency, difficult to diagnose, whose prognosis depends on a quick management.

Aim Of The Study: To evaluate the management and outcome of these patients.

Study Design: We retrospectively analyzed all cases of UT torsion operated in nine French hospitals between 1997 and 2017. Read More

Basic Clin Androl 2020 Dec 9;30(1):19. Epub 2020 Dec 9.

CHU Clermont-Ferrand, Service d'endocrinologie, diabétologie et maladies métaboliques, 58, rue Montalembert, F-63003, Clermont-Ferrand, France.

Background: Idiopathic central precocious puberty (ICPP) is supposed to be non-existent in a context of testicular destruction that is typically present in Klinefelter syndrome (KS). Herein, we describe a rare case of ICPP in a Klinefelter patient (47,XXY) with 2 maternal X chromosomes. Moreover, we highlight the differences in gonadotropin levels in comparison to males with ICPP and a normal karyotype. Read More

BMC Pediatr 2020 11 28;20(1):536. Epub 2020 Nov 28.

Pathology, Alexandria Faculty of Medicine, Alexandria, Egypt.

Background: Hemiscrotal agenesis (HSA) is an exceedingly rare congenital anomaly in scrotal development. It is characterized by unilateral absence of scrotal skin with intact midline raphe. In the English literature, only seven patients were diagnosed with HSA. Read More

PLoS One 2020 11;15(11):e0239321. Epub 2020 Nov 11.

Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, United States of America.

Background: Testicular germ cell tumor (TGCT) incidence has increased in recent decades along with the use and dose of diagnostic radiation. Here we examine the association between reported exposure to diagnostic radiation and TGCT risk.

Methods: We conducted a case-control study of men with and without TGCT recruited from hospital- and population-based settings. Read More

Urol Case Rep 2020 Nov 17;33:101307. Epub 2020 Jun 17.

King Faisal Specialist Hospital, Urology Department, Riyadh, Saudi Arabia.

Splenogonadal fusion is a rare benign congenital anomaly with few cases described in the literature. It is 16 times more common in males than in females. A 22 year-old healthy male with cryptorchidism presented with preoperative imaging strongly suggestive of malignancy. Read More

J Pediatr Urol 2020 12 2;16(6):817-818. Epub 2020 Oct 2.

Department of Pediatric Surgery, All India Institute of Medical Sciences Jodhpur, Basni Industrial Area, MIA, 2(nd) Phase, Basni, Jodhpur, 342005, India. Electronic address:

Med Sci Monit 2020 Oct 13;26:e924325. Epub 2020 Oct 13.

Department of Ultrasound, Children's Hospital of Fudan University Xiamen Branch, Xiamen Children's Hospital, Xiamen, Fujian, China (mainland).

BACKGROUND Ultrasound (US) is the preferred imaging method for cryptorchidism, but most guidelines indicate that its value is questionable. The aim of this study was to evaluate the clinical value of ultrasonic mobility and testicular atrophy index (TAI) based on three‑dimensional US (3DUS) in preoperative and postoperative assessment of the undescended testis. MATERIAL AND METHODS Data from 158 children with unilateral extraperitoneal cryptorchidism were collected and their diagnoses were surgically confirmed. Read More

Vet Surg 2020 Dec 25;49(8):1641-1647. Epub 2020 Sep 25.

Eastcott Referrals, Swindon, United Kingdom.

Objective: To report the surgical technique and outcome for correction of complete unilateral duplication of the left urinary tract in a dog.

Animals: One 7-month-old entire male Jack Russell terrier.

Study Design: Case report METHODS: A dog was referred for investigation because of urinary incontinence (UI), preputial irritation (pruritus), diphallia, and cryptorchidism. Read More

Ultrasound Q 2020 Dec;36(4):363-370

Konya Medicana Hospital, Selçuklu, Konya, Turkey.

Superb microvascular imaging (SMI) is a new Doppler technique. Superb microvascular imaging can observe microvascular and low-velocity blood flow. Superb microvascular imaging is available in 2 modes: color SMI (cSMI) and monochrome SMI (mSMI). Read More

J Pediatr Urol 2020 12 28;16(6):816.e1-816.e4. Epub 2020 Aug 28.

Department of Radiology, Shizuoka Children's Hospital, Japan.

Introduction And Objective: In the case of non-palpable testes, we often find a small nodule which is called "testicular nubbin (TN)" in scrotum or inguinal canal. There is no agreement about the treatment for TN. This time we investigated whether or not ultrasound examination (US) can be a useful modality for detecting TN. Read More

J Pediatr Urol 2020 Dec 8;16(6):751-759. Epub 2020 Aug 8.

Department of Paediatric Urology, Royal Children's Hospital, Melbourne, Australia; Department of Surgery, University of Auckland, Auckland, New Zealand.

Background: There appear to be various patterns of sidedness with relation to the common urogenital malformations observed in pediatric urology. The objective of this statistical review was to synthesize this data and to assess if these patterns are significant.

Materials And Methods: Eighteen urogenital conditions were investigated and for each condition the five largest studies that noted laterality were included. Read More

J Pediatr Urol 2020 Oct 21;16(5):635.e1-635.e7. Epub 2020 Aug 21.

University of Health Sciences, Dr Sami Ulus Gynecology, Obstetrics and Child Health and Diseases Training and Research Hospital, Department of Pediatric Surgery, Beştepeler Mah, Beştepe, Alparslan Türkeş Cad. No: 27, 06560, Ankara, Turkey. Electronic address:

Introduction: Epididymal anomalies are common in boys with undescended testis. Epididymo-testicular non-union with a nubbin in the scrotum is a rare anomaly and may be confusing during management of cryptorchidism. The non-fused epididymis and vas deferens which are descended to the scrotum, may be regarded as nubbin tissue secondary to testicular atrophy and proximal testis may be overlooked. Read More

Am J Med Genet A 2020 11 1;182(11):2501-2507. Epub 2020 Sep 1.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

EVEN-PLUS syndrome is a rare condition characterized by its involvement of the Epiphyses, Vertebrae, Ears, and Nose, PLUS other associated findings. We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p. Read More

Pediatr Surg Int 2020 Nov 31;36(11):1387-1393. Epub 2020 Aug 31.

Genetic and Endocrinology Unit, Pediatric Department, Faculty of Medicine, Menoufia University, Menoufia, Egypt.

Cryptorchidism (CO) is a genital disorder of multifactorial etiology, with serious remote complications. Mutations in insulin-like 3 hormones (INSL3) G/A variant remain a matter of inquiry. We aimed to investigate the association between G178A-INSL3 polymorphism and undescended testis in a cohort of Egyptian children. Read More

Pan Afr Med J 2020 17;36:102. Epub 2020 Jun 17.

Faculty of Medicine and Biomedical Sciences, University of Yaounde 1, Yaounde, Cameroon.

The Prune-Belly syndrome (PBS) is a rare pathology predominating in male infants, classically manifesting with the triad including aplasia of the abdominal wall muscles, dilatation of the urinary tract, and testicular abnormalities. We report and discuss the case of a full-term male newborn, in whom clinical examination at birth revealed abdominal wall muscle hypoplasia, cryptorchidism, urinary tract dilatation and renal failure. The diagnosis was made based on physical assessment, abdominal ultra-sonographic imaging, and blood sampling of urea and creatinine. Read More

BMJ Case Rep 2020 Jul 16;13(7). Epub 2020 Jul 16.

Department of Urology, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.

Persistent Mullerian duct syndrome has been described as a disease of internal male pseudohermaphroditism, a rare autosomal recessive disease, characterised by persistent Mullerian derivatives in patients with male pattern 46, XY karyotype and normal pattern virilisation. We present a case of an elderly man, who on evaluation for bilateral undescended testes was found to have a pelvic mass suggestive of malignant transformation of an undescended testis on imaging. On surgical exploration, uterus with multiple fibroids, bilateral fallopian tubes, cervix and bilateral atrophic testes were identified. Read More

J Pediatr Urol 2020 Aug 19;16(4):462.e1-462.e6. Epub 2020 Jun 19.

Department of Urology, Division of Pediatric Urology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA.

Introduction: Cryptorchidism is one of the most common referral diagnoses to pediatric urologists. It is well recognized in the urologic community that diagnostic imaging is unnecessary in the work-up of these patients, and the Choosing Wisely® recommendation (CWR) on this subject re-emphasized this in 2013. Many boys, however, still are sent for testing prior to referral. Read More

Med Pharm Rep 2020 Apr 22;93(2):213-218. Epub 2020 Apr 22.

Department of Medical Imaging, Iuliu Hatieganu University of Medicine and Pharmacy, "Prof. Dr. Octavian Fodor", Regional Institute of Gastroenterology and Hepatology Cluj-Napoca, Romania.

Cryptorchidism, as a singular pathology or associated with other dysgenesis syndromes, is one of the main factors of risk for the development of the testicular tumors. Although there are a great number of cases of undescended testicles that are diagnosed and treated during the first 6-12 months of life, there are rare cases of adults who are undiagnosed and untreated from this anomaly, which can present a high risk of malignancy. In this study we present the case of a 36-year-old patient, diagnosed at puberty with left cryptorchidism, untreated, who also hadevidenced a large intraabdominal tumoral mass associated with it. Read More