Literature DB >> 27990598

Disorders of sex development (DSD): not only babies with ambiguous genitalia. A practical guide for surgeons.

Irene Kearsey1,2, John M Hutson3,4,5.   

Abstract

INTRODUCTION AND METHODS: In this review, we describe the common clinical scenarios that may be present to a paediatric surgeon when a patient has a disorder of sex development (DSD). Our aim was to prepare surgeons so that they can respond with correct approaches to diagnose and manage the given situations.
RESULTS: DSD present in three distinct clinical situations: in the neonate with some abnormality of the external genitalia; in the child undergoing surgical treatment for inguinal hernia or during open or laparoscopic orchidopexy or during hypospadias correction; and at or after puberty, which may be precocious or delayed or in an adolescent girl with masculinisation at puberty. We describe the clinical features, likely diagnoses and the recommended management pathway in these scenarios.

Entities:  

Keywords:  Childhood adolescence; DSD; Diagnosis; Disorders of sex development

Mesh:

Year:  2016        PMID: 27990598     DOI: 10.1007/s00383-016-4036-5

Source DB:  PubMed          Journal:  Pediatr Surg Int        ISSN: 0179-0358            Impact factor:   1.827


  13 in total

1.  Congenital unilateral absence of the vas deferens.

Authors:  Anthony Rotman; John Hutson
Journal:  ANZ J Surg       Date:  2010-03       Impact factor: 1.872

2.  Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging.

Authors:  Peter Oppelt; Stefan P Renner; Anja Kellermann; Sara Brucker; Georges A Hauser; Kurt S Ludwig; Pamela L Strissel; Reiner Strick; Diethelm Wallwiener; Matthias W Beckmann
Journal:  Hum Reprod       Date:  2005-11-10       Impact factor: 6.918

3.  The challenges in diagnosis and gender assignment in disorders of sex development presenting to a pediatric surgical unit in a developing country: the role of laparoscopy and simple tests for gender identity.

Authors:  Tanvir K Chowdhury; Mahfuzul Kabir; Md Zonaid Chowdhury; John M Hutson; Tahmina Banu
Journal:  J Pediatr Urol       Date:  2014-07-30       Impact factor: 1.830

4.  Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.

Authors:  Minu M George; Sunil Sinha; Irene Mamkin; Pascal Philibert; Maria I New; Robert C Wilson; Charles Sultan; Svetlana Ten; Amrit Bhangoo
Journal:  Gynecol Endocrinol       Date:  2011-01-10       Impact factor: 2.260

Review 5.  Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

Authors:  Pierre D E Mouriquand; Daniela Brindusa Gorduza; Claire-Lise Gay; Heino F L Meyer-Bahlburg; Linda Baker; Laurence S Baskin; Claire Bouvattier; Luis H Braga; Anthony C Caldamone; Lise Duranteau; Alaa El Ghoneimi; Terry W Hensle; Piet Hoebeke; Martin Kaefer; Nicolas Kalfa; Thomas F Kolon; Gianantonio Manzoni; Pierre-Yves Mure; Agneta Nordenskjöld; J L Pippi Salle; Dix Phillip Poppas; Philip G Ransley; Richard C Rink; Romao Rodrigo; Léon Sann; Justine Schober; Hisham Sibai; Amy Wisniewski; Katja P Wolffenbuttel; Peter Lee
Journal:  J Pediatr Urol       Date:  2016-04-09       Impact factor: 1.830

Review 6.  Neonatal screening for congenital adrenal hyperplasia.

Authors:  Perrin C White
Journal:  Nat Rev Endocrinol       Date:  2009-09       Impact factor: 43.330

7.  The anatomy of the caudal vas deferens in patients with a genital anomaly.

Authors:  David B Meir; John M Hutson
Journal:  J Pediatr Urol       Date:  2005-07-25       Impact factor: 1.830

8.  Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.

Authors:  L S Levine; B Dupont; F Lorenzen; S Pang; M Pollack; S E Oberfield; B Kohn; A Lerner; E Cacciari; F Mantero; A Cassio; C Scaroni; G Chiumello; G F Rondanini; L Gargantini; G Giovannelli; R Virdis; E Bartolotta; C Migliori; C Pintor; L Tato; F Barboni; M I New
Journal:  J Clin Endocrinol Metab       Date:  1981-12       Impact factor: 5.958

9.  Congenital adrenal hyperplasia: diagnostic advances.

Authors:  T Torresani; Anna Biason-Lauber
Journal:  J Inherit Metab Dis       Date:  2007-08-10       Impact factor: 4.982

10.  The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.

Authors:  Birgit Köhler; Lin Lin; Inas Mazen; Cigdem Cetindag; Heike Biebermann; Ilker Akkurt; Rainer Rossi; Olaf Hiort; Annette Grüters; John C Achermann
Journal:  Eur J Endocrinol       Date:  2009-05-13       Impact factor: 6.664

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  4 in total

Review 1.  Towards improved genetic diagnosis of human differences of sex development.

Authors:  Emmanuèle C Délot; Eric Vilain
Journal:  Nat Rev Genet       Date:  2021-06-03       Impact factor: 53.242

2.  The role of ultrasound to evaluate the disorders of sex development: a pictorial essay.

Authors:  Takahiro Hosokawa; Yutaka Tanami; Yumiko Sato; Mayumi Hosokawa; Eiji Oguma
Journal:  J Ultrasound       Date:  2022-01-06

3.  Mental health status of children with disorders of sexual development and their correlates.

Authors:  Jingjing Cai; Guochun Zhu; Hongjuan Tian; Jinna Yuan; Huihui Gao; Liying Sun; Guanping Dong; Wei Ru; Dehua Wu; Daxing Tang; Weijia Gao; Junfen Fu; Rongwang Yang
Journal:  Front Public Health       Date:  2022-07-27

Review 4.  Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development).

Authors:  Martin A Estermann; Craig A Smith
Journal:  Int J Mol Sci       Date:  2020-09-10       Impact factor: 5.923

  4 in total

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