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A MRI Diagnosis of Congenital Urogenital Anomalies in 27 Years
Journal of Advances in Radiology and Medical Imaging Volume 4 | Issue 1 ISSN: 2456-5504 Case Report Open Access A MRI Diagnosis of Congenital Urogenital Anomalies in 27 Years Old Man D’Amato D*, Ranalli T, Tatulli D, Bocchinfuso F, Manenti G, Valente F and Bizzaglia M Diagnostic and Interventional Radiology, Policlinico Tor Vergata, University of Rome “Tor Vergata”, Rome, Italy *Corresponding author: D’Amato D, Diagnostic and Interventional Radiology, Policlinico Tor Vergata, University of Rome “Tor Vergata”, Viale Oxford 181, Rome, Italy, Tel: +393207034690, E-mail: [email protected] Citation: D’Amato D, Ranalli T, Tatulli D, Bocchinfuso F, Manenti G, et al. (2019) A MRI Diagnosis of Congenital Urogenital Anomalies in 27 Years Old Man. J Adv Radiol Med Image 4(1): 102 Received Date: April 04, 2019 Accepted Date: August 26, 2019 Published Date: August 28, 2019 Abstract Congenital anorchia is an uncommon clinical condition. Etiology and pathogenetic mechanisms are often unknown. Although some patients with anorchia present with ambiguous external genitalia or micropenis, most have a normal phenotype. XY Disorders of Sex Development classifications are numerous and success rate in establishing a precise diagnosis is far lower than in XX karyotype. We report the case of a young man, with 46 XY karyotype showing various uro-genital abnormalities. A definitive diagnosis was not established due to the complex clinical presentation. Ultrasonography and Magnetic Resonance Imaging techniques were useful tools in the definition of uro-genital anomalies and gonadal development in this complex scenario. Keywords: Anorchia; Cryptorchidism; Urogenital Anomalies; DSD; MRI List of abbreviations: MRI: Magnetic Resonance Imaging; US: Ultrasonography; DSD: Disorders of Sex Development, FSH: Follicle- Stimulating Hormone; HCG: Human Chorionic Gonadotropin; LH: Luteinizing Hormone; AMH Antimüllerian Hormone; LHRH LH- Releasing Hormone; SD: Standard Deviation Introduction The disorders of sexual differentiation constitute a challenging area for both diagnostic and therapeutic impact. -
Growth Hormone Deficiency Causing Micropenis:Peter A
Growth Hormone Deficiency Causing Micropenis:Peter A. Lee, MD, PhD, a Tom Mazur, PsyD, Lessons b Christopher P. Houk, MD, Learned c Robert M. Blizzard, MD d From a Well-Adjusted Adultabstract This report of a 46, XY patient born with a micropenis consistent with etiology from isolated congenital growth hormone deficiency is used to (1) raise the question regarding what degree testicular testosterone exposure aDepartment of Pediatrics, College of Medicine, Penn State to the central nervous system during fetal life and early infancy has on the University, Hershey, Pennsylvania; bCenter for Psychosexual development of male gender identity, regardless of gender of rearing; (2) Health, Jacobs School of Medicine and Biomedical suggest the obligatory nature of timely full disclosure of medical history; Sciences, University at Buffalo and John R. Oishei Children’s Hospital, Buffalo, New York; cDepartment of (3) emphasize that virtually all 46, XY infants with functional testes and Pediatrics, Medical College of Georgia, Augusta University, a micropenis should be initially boys except some with partial androgen Augusta, Georgia; and dDepartment of Pediatrics, College of Medicine, University of Virginia, Charlottesville, Virginia insensitivity syndrome; and (4) highlight the sustaining value of a positive long-term relationship with a trusted physician (R.M.B.). When this infant Dr Lee reviewed and discussed the extensive medical records with Dr Blizzard, reviewed presented, it was commonly considered inappropriate to gender assign an pertinent medical literature, and wrote each draft infant male whose penis was so small that an adult size was expected to be of the manuscript with input from all coauthors; inadequate, even if the karyotype was 46, XY, and testes were functional. -
Micropenis Associated with Testicular Agenesis
Arch Dis Child: first published as 10.1136/adc.50.3.247 on 1 March 1975. Downloaded from Short reports 247 REFERENCES Patients Barnes, N. D., Joseph, J. M., Atherden, S. M. and Clayton, B. E. (1972). Functional tests of adrenal axis in children with Case 1. The second child of unrelated parents, born measurement of plasma cortisol by competitive protein binding. after a normal term pregnancy. At birth it was difficult Archives of Disease in Childhood, 47, 66. to decide the infant's sex. A minute penis consisting of Deane, H. W., and Masson, G. M. C. (1951). Adrenal cortical a small prepuce-like skin tag devoid of palpable erectile changes in rats with various types of experimental hypertension. .ournal of Clinical Endocrinology, 11, 193. tissue was present (Fig. 1). The urethral orifice could Fanconi, G. (1954). Tubular insufficiency and renal dwarfism. not be seen but urine was passed from this area. Testes Archives of Disease in Childhood, 29, 1. could not be felt in the small, fleshy scrotum. Physical Howse, P. M., Rayner, P. H. W., Williams, J. W., and Rudd, B. T. (1974). Growth hormone secretion during sleep in short examination was otherwise normal. children: a continuous sampling study. Archives of Disease in Childhood, 49, 246. James, V. H. T., Townsend, J., and Fraser, R. (1967). Comparison of fluorimetric and isotopic procedures for the determination of plasma cortisol. journal of Endocrinology, 37, xxviii. Mattingly, D. (1962). A simple fluorimetric method for the estimation of free 1 1-hydroxycorticoids in human plasma. Journal of Clinical Pathology, 15, 374. -
Pathogenic Variants in the DEAH-Box RNA Helicase DHX37 Are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome
ARTICLE © American College of Medical Genetics and Genomics Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome Ken McElreavey, PhD 1, Anne Jorgensen, PhD 2, Caroline Eozenou, PhD1, Tiphanie Merel, MSc1, Joelle Bignon-Topalovic, BSc1, Daisylyn Senna Tan, BSc3, Denis Houzelstein, PhD 1, Federica Buonocore, PhD 4, Nick Warr, PhD 5, Raissa G. G. Kay, PhD5, Matthieu Peycelon, MD, PhD 6,7,8, Jean-Pierre Siffroi, MD, PhD6, Inas Mazen, MD9, John C. Achermann, MD, PhD 4, Yuliya Shcherbak, MD10, Juliane Leger, MD, PhD11, Agnes Sallai, MD 12, Jean-Claude Carel, MD, PhD 11, Laetitia Martinerie, MD, PhD11, Romain Le Ru, MD13, Gerard S. Conway, MD, PhD14, Brigitte Mignot, MD15, Lionel Van Maldergem, MD, PhD 16, Rita Bertalan, MD, PhD17, Evgenia Globa, MD, PhD 18, Raja Brauner, MD, PhD19, Ralf Jauch, PhD 3, Serge Nef, PhD 20, Andy Greenfield, PhD5 and Anu Bashamboo, PhD1 Purpose: XY individuals with disorders/differences of sex devel- specifically associated with gonadal dysgenesis and TRS. opment (DSD) are characterized by reduced androgenization Consistent with a role in early testis development, DHX37 is caused, in some children, by gonadal dysgenesis or testis regression expressed specifically in somatic cells of the developing human during fetal development. The genetic etiology for most patients and mouse testis. with 46,XY gonadal dysgenesis and for all patients with testicular Conclusion: DHX37 pathogenic variants are a new cause of an regression syndrome (TRS) is unknown. autosomal dominant form of 46,XY DSD, including gonadal Methods: We performed exome and/or Sanger sequencing in 145 dysgenesis and TRS, showing that these conditions are part of a individuals with 46,XY DSD of unknown etiology including clinical spectrum. -
EAU-Guidelines-On-Paediatric-Urology-2019.Pdf
EAU Guidelines on Paediatric Urology C. Radmayr (Chair), G. Bogaert, H.S. Dogan, R. Kocvara˘ , J.M. Nijman (Vice-chair), R. Stein, S. Tekgül Guidelines Associates: L.A. ‘t Hoen, J. Quaedackers, M.S. Silay, S. Undre European Society for Paediatric Urology © European Association of Urology 2019 TABLE OF CONTENTS PAGE 1. INTRODUCTION 8 1.1 Aim 8 1.2 Panel composition 8 1.3 Available publications 8 1.4 Publication history 8 1.5 Summary of changes 8 1.5.1 New and changed recommendations 9 2. METHODS 9 2.1 Introduction 9 2.2 Peer review 9 2.3 Future goals 9 3. THE GUIDELINE 10 3.1 Phimosis 10 3.1.1 Epidemiology, aetiology and pathophysiology 10 3.1.2 Classification systems 10 3.1.3 Diagnostic evaluation 10 3.1.4 Management 10 3.1.5 Follow-up 11 3.1.6 Summary of evidence and recommendations for the management of phimosis 11 3.2 Management of undescended testes 11 3.2.1 Background 11 3.2.2 Classification 11 3.2.2.1 Palpable testes 12 3.2.2.2 Non-palpable testes 12 3.2.3 Diagnostic evaluation 13 3.2.3.1 History 13 3.2.3.2 Physical examination 13 3.2.3.3 Imaging studies 13 3.2.4 Management 13 3.2.4.1 Medical therapy 13 3.2.4.1.1 Medical therapy for testicular descent 13 3.2.4.1.2 Medical therapy for fertility potential 14 3.2.4.2 Surgical therapy 14 3.2.4.2.1 Palpable testes 14 3.2.4.2.1.1 Inguinal orchidopexy 14 3.2.4.2.1.2 Scrotal orchidopexy 15 3.2.4.2.2 Non-palpable testes 15 3.2.4.2.3 Complications of surgical therapy 15 3.2.4.2.4 Surgical therapy for undescended testes after puberty 15 3.2.5 Undescended testes and fertility 16 3.2.6 Undescended -
A Rare Case of Aphallia- Moghtaderi M Et Al
A Rare case of Aphallia- Moghtaderi M et al Case Report J Ped. Nephrology 2016;4(2):74-77 http://journals.sbmu.ac.ir/jpn DOI: A Rare case of Aphallia How to Cite This Article: Moghtaderi M, Boroomand M, Kajbafzadeh A, Arshadi H, Ghohestani M, Mehdizadeh M. A Rare case of Aphallia, J Ped Nephrology2016;4(2):74-77. Mastaneh Moghtaderi,1* Maryam Boroomand,1 Aphallia (total absence of penis) is an extremely Abdolmohammad Kajbafzadeh,2 rare abnormality that can be part of the urorectal Hamid Arshadi, 2 septum malformation sequence. Mohammad Ghohestani,1 We are reporting a 40-day-old boy who was Mehrzad Mehdizadeh3 referred to our nephrology clinic due to the absence of the penis and urinating through the 1Department of Pediatric Nephrology, Chronic Kidney rectum. He was born to a 17-year-old mother and Disease Research Center. Children Medical Center a 24-year-old father, and was delivered term via Hospital, Tehran University of Medical Sciences, Tehran, normal vaginal delivery. Iran. The pregnancy was uncomplicated with no 2Pediatric Urology research Center, Children Medical maternal toxin or medication exposure. Both Center Hospital, Tehran University of Medical Sciences, parents were healthy and there was no family Tehran, Iran. history of congenital abnormality. The parents 3Department of Pediatric Radiology, Children Medical were also unrelated. Center Hospital, Tehran University of Medical Sciences, Physical examination revealed agenesis of the Tehran, Iran. penis, a normal scrotum, and bilateral normally positioned testises. Moreover, the heart, lungs, *Corresponding Author abdomen, head and neck, and spinal column were Mastaneh Moghtaderi, MD. all normal on examination. -
Genetics of Azoospermia
International Journal of Molecular Sciences Review Genetics of Azoospermia Francesca Cioppi , Viktoria Rosta and Csilla Krausz * Department of Biochemical, Experimental and Clinical Sciences “Mario Serio”, University of Florence, 50139 Florence, Italy; francesca.cioppi@unifi.it (F.C.); viktoria.rosta@unifi.it (V.R.) * Correspondence: csilla.krausz@unifi.it Abstract: Azoospermia affects 1% of men, and it can be due to: (i) hypothalamic-pituitary dysfunction, (ii) primary quantitative spermatogenic disturbances, (iii) urogenital duct obstruction. Known genetic factors contribute to all these categories, and genetic testing is part of the routine diagnostic workup of azoospermic men. The diagnostic yield of genetic tests in azoospermia is different in the different etiological categories, with the highest in Congenital Bilateral Absence of Vas Deferens (90%) and the lowest in Non-Obstructive Azoospermia (NOA) due to primary testicular failure (~30%). Whole- Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening. We classified these genes according to the associated-testicular histology underlying the NOA phenotype. The validation and the discovery of novel NOA genes will radically improve patient management. Interestingly, approximately 37% of candidate genes are shared in human male and female gonadal failure, implying that genetic counselling should be extended also to female family members of NOA patients. Keywords: azoospermia; infertility; genetics; exome; NGS; NOA; Klinefelter syndrome; Y chromosome microdeletions; CBAVD; congenital hypogonadotropic hypogonadism Citation: Cioppi, F.; Rosta, V.; Krausz, C. Genetics of Azoospermia. 1. Introduction Int. J. Mol. Sci. -
Abnormalities of the External Genitalia and Groins Among Primary School Boys in Bida, Nigeria
Abnormalities of the external genitalia and groins among primary school boys in Bida, Nigeria. Adedeji O Adekanye1,2, Samuel A Adefemi1,3, Kayode A Onawola1,2, John A James1,2, Ibrahim T Adeleke1,4, Mark Francis1,2, Ezekiel U Sheshi1,3, Moses E Atakere1,5, Abdullahi D Jibril1,5 1. Centre for Health & Allied Researches (CHAR), Federal Medical Centre Bida, Nigeria 2. Department of Surgery, Federal Medical centre, Bida Nigeria 3. Department of Family Medicine, Federal Medical centre, Bida Nigeria 4. Department of Health Information management, Federal Medical centre, Bida Nigeria 5. Department of Obstetrics & Gynaecology, Federal Medical centre, Bida Nigeria Abstract Background: Abnormalities of the male external genitalia and groin, a set of lesions which may be congenital or acquired, are rather obscured to many kids and their parents and Nigerian health care system has no formal program to detect them. Objectives: To identify and determine the prevalence of abnormalities of external genitalia and groin among primary school boys in Bida, Nigeria. Methods: This was a cross-sectional study of primary school male pupils in Bida. A detailed clinical examination of the external genitalia and groin was performed on them. Results: Abnormalities were detected in 240 (36.20%) of the 663 boys, with 35 (5.28%) having more than one abnormality. The three most prevalent abnormalities were penile chordee (37, 5.58%), excessive removal of penile skin (37, 5.58%) and retractile testis (34, 5.13%). The prevalence of complications of circumcision was 15.40% and included excessive residual foreskin, exces- sive removal of skin, skin bridges and meatal stenosis. -
Surgical Correction of a Penoscrotal Web:A Report of a Case With
www.symbiosisonline.org Symbiosis www.symbiosisonlinepublishing.com Review Article SOJ Surgery Open Access Surgical Correction of a Penoscrotal Web:A Report of a Case with Literature Review Volkan Sarper Erikci1*, Merve Dilara Öney2, Gökhan Köylüoğlu3 1Attending Pediatric Surgeon, Associate Professor of Pediatric Surgery, Sağlık Bilimleri University, TURKEY 2Trainee in Pediatric Surgery, Sağlık Bilimleri University,Turkey 3Professor of Pediatric Surgery, Chief Department of Pediatric Surgery, Katip Çelebi University, Turkey Received: 7 July, 2017; Accepted: 14 September, 2017; Published: 23 September, 2017 *Corresponding author: Volkan Sarper Erikci, Attending Pediatric Surgeon, Associate Professor of Pediatric Surgery, Sağlık Bilimleri University, Kazim Dirik Mah Mustafa Kemal Cad Hakkibey apt. No:45 D.10 35100 Bornova-İzmir. GSM: +90 542 4372747, Business phone: +90 232 4696969, Fax: +90 232 4330756; E-mail: [email protected] and the medical history did not reveal local infection, urinary Abstract retention or chronic urinary dripping. But the parents were Penoscrotal Webbing (PSW) is a penile and scrotal skin anxious because they felt that their child’s penis was too short. In abnormality that is considered in the spectrum of buried penis. Various surgical techniques have been proposed for PSW with on the ventral aspect of the penis solved the problem (Figure 3,4). different terminologies. Herein we present a 7-year-old boy with PSW Withaddition an uneventful to circumcision, postoperative foreskin period,reconstruction the family -
Congenital Penile Malformations: Dartos and Androgens Ghent University Hospital Maintains Database of Children Undergoing Surgery for CPM
Congenital penile malformations: Dartos and androgens Ghent University Hospital maintains database of children undergoing surgery for CPM Dr. Anne-Françoise Human male and female genitalia originate from a Spinoit common identical genital tubercle. Sexual Pediatric and differentiation into male or female starts around the Reconstructive 8th gestational week, under the influence of the Urology Sex-determining Region Y (SRY) gene12,13. With Robotics progressive differentiation of the undifferentiated Ghent University gonad into testicle, androgen production is started, Hospital along with Anti-Müllerian Hormone (AMH), allowing Ghent (BE) further differentiation into male genitalia. Initial differentiation of the bi-potential undifferentiated gonad is androgen-independent until a testicle is formed. Further development of the male genitalia is Over the past decades, epidemiologic studies have androgen dependent, while regression of female shown increasing incidence of Congenital Penile (Müllerian) primitive structures is dependent on AMH Malformations (CPMs)1-3. Anomalies of the male production. external genitalia may be confined to the clinical appearance, or might be the first clue indicating Under the influence of androgens, the genital tubercle further underlying disorders that require evaluation. grows into the penis14. Hypospadias is the most frequent congenital penile One of the questions that arise is whether DT defect affecting the external male genitalia, with an development is hormone-dependent. It is known that incidence around one in 250 male newborns2,4. It is the development of the male external genitalia occurs therefore the most studied CPM. under hormonal influence so it seems logical that disturbances in the hormonal mechanisms can have Buried penis (BP) is another CPM frequently any influence on DT patterns. -
Prader Willi Syndrome (PWS) and Hypogonadism
4/28/2015 Prader Willi Syndrome and Hypogonadism Kathryn Anglin, MSN, BSN, RN Pediatric Endocrine Clinical Nurse Specialist Nationwide Children’s Hospital Columbus, Ohio ………………..…………………………………………………………………………………………………………………………………….. No Conflict of Interest to Disclose ………………..…………………………………………………………………………………………………………………………………….. Objectives • Identify the clinical features of hypogonadism and incomplete / delayed puberty in a male with Prader Willi syndrome (PWS) • Understand the role of hCG in evaluation and treatment of hypogonadism in PWS • Discuss expert recommendations for the treatment of hypogonadism in males with PWS 1 4/28/2015 Introduction • PWS is a multisystem genetic disorder (15q11.2-q13) • Complex phenotype likely caused by hypothalamic dysfunction leading to hormonal dysfunction and the absence of satiety • Hypotonia and hypogonadism are the first manifestations of a primitive hypothalammic alteration, which many believe is the basis of PWS Introduction • Hypogonadism is a common clinical feature of PWS which confirms the importance of hypogonadism as a major diagnostic criterion of PWS • Patients with PWS commonly fail to spontaneously initiate or complete puberty • However, many have premature adrenarche • Precocious puberty is more rare Case Study Hypogonadisn in PWS Currently 19 year old male History: • Diagnosed clinically at age 2 years, and at 6 years based on methylation studies; Consistent with imprinting abnormality* • Hypotonia and poor feeding in the newborn period Developmental delay and hyperphagia in the early -
The Approach to the Infant with Ambiguous Genitalia
334 Review Article Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia Justin A. Indyk Section of Endocrinology, Nationwide Children’s Hospital, the Ohio State University, Columbus, Ohio 43205, USA Correspondence to: Justin A. Indyk, MD, PhD. THRIVE Program, Section of Endocrinology, Nationwide Children’s Hospital, 700 Children’s Drive, Columbus, Ohio 43205, USA. Email: [email protected]. Abstract: The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. A timely approach must be sensitive and attend to the psychosocial needs of the family. In addition, it must also effectively address the diagnostic dilemma that is frequently seen in the care of patients with disorders of sex development (DSDs). One great challenge is assigning a sex of rearing, which must take into account a variety of factors including the clinical, biochemical and radiologic clues as to the etiology of the atypical genitalia (AG). However, other important aspects cannot be overlooked, and these include parental and cultural views, as well as the future outlook in terms of surgery and fertility potential. Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. The multiple facets of this approach are outlined in this review. Keywords: Sex; gender; genitalia; DSD;