Diagnosis and Treatment of Genital Malformations in Infancy and Adolescence

Chapter

Abstract

Genital malformations range from congenital absence of the vagina and uterus, to defects in lateral or vertical fusion of the Müllerian ducts, and to the formation of external genitalia that are ambiguous in sexual differentiation.

They occur quite frequently in infancy and adolescence, though prevalence rates vary depending on the classification system, the diagnostic method used, and the population evaluated (patients at the time of obstetric delivery, patients with a history of infertility, or patients with habitual miscarriages).

In most cases, the etiology is largely unknown: genital malformations may result from genetic mutations, developmental arrest (caused by intrauterine or extrauterine factors), or environmental insults. They may also be included in multiple malformation syndromes due to the intertwined development of genital and urinary systems.

Nowadays, the most widely accepted classification is the ASRM (American Society for Reproductive Medicine) classification system, that organizes genital malformations into seven groups on the basis of the degree of failure of Müllerian development and fusion.

The diagnosis of genital malformations, originally based on invasive procedures (laparoscopy and hysteroscopy), currently makes a great use of US, as initial examination, and MRI, for complicated cases, that are considered the gold standards.

The aim of this chapter is to define and describe all the different types of genital malformation and to deepen their diagnostic tools and treatment options.

Abbreviations

AFS

American Fertility Society

AMH

Antimüllerian hormone

ASRM

American Society for Reproductive Medicine

DES

Diethylstilbestrol

ESHRE/ESGE

European Society of Human Reproduction and Embryology/European Society of Gynaecological Endoscopy

GnRH analogues

Gonadotropin-releasing hormone analogues

IVF

In vitro fertilization

MIF

Müllerian inhibitory factor

MRI

Magnetic resonance imaging

MRKHS

Mayer–Rokitansky–Küster–Hauser syndrome

MURCS

Müllerian renal cervical somite

OHVIRA

Obstructed hemivagina and ipsilateral renal anomaly

PID

Pelvic inflammatory disease

TVS

Transverse vaginal septum

US

Ultrasonography

2D-US

Two-dimensional ultrasonography

3D-US

Three-dimensional ultrasonography

VCUAM

Vagina, cervix, uterus, and adnexa-associated malformation

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Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  1. 1.Department of Obstetrics and GynecologyUniversity of Milan, Fondazione IRCCS Cà Granda Ospedale Maggiore PoliclinicoMilanItaly

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