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Cosmetic labiaplasty is a form of Female Genital Cosmetic Surgery (FGCS) that is performed with the deliberate intent to alter the appearance and morphology of the external genitalia in the absence of medical concerns. Over the last decade, there is an increasing demand for FGCS and the industry behind it is constantly growing. Adolescents comprise an extremely vulnerable population, with labiaplasties in this particular age group having also increased. However, labiaplasty has been widely contested due to the irrevocable alteration of a psychosexually significant body part on minors too young to consent. Besides, the changes that occur during pubertal development in the genital area can significantly alter pediatric surgical results. Genital anatomy is more diverse than we previously thought and there is evidence to suggest that the labia minora with their rich innervation play an important role in sexual arousal and pleasure. Education regarding the wide range of normal genital appearance suffices in most cases to dissolve concerns regarding body self-image. Mental health issues should always be explored and, if identified, the girl should be referred to an experienced professional for their resolution. Postponing labiaplasty until adulthood is strongly recommended to help adolescents achieve a well-informed decision regarding an irreversible procedure with possible adverse esthetic and functional outcomes.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterizing females with absence of the uterus and part of the vagina. Several genetic defects have been correlated with the presence of MRKH; however, the exact etiology is still unknown due to the complexity of the genetic pathways implicated during the embryogenetic development of the Müllerian ducts. A systematic review (SR) of the literature was conducted to investigate the genetic causes associated with MRKH syndrome and Congenital Uterine Anomalies (CUAs). This study aimed to identify the most affected chromosomal areas and genes along with their associated clinical features in order to aid clinicians in distinguishing and identifying the possible genetic cause in each patient offering better genetic counseling. We identified 76 studies describing multiple genetic defects potentially contributing to the pathogenetic mechanism of MRKH syndrome. The most reported chromosomal regions and the possible genes implicated were: 1q21.1 (RBM8A gene), 1p31-1p35 (WNT4 gene), 7p15.3 (HOXA gene), 16p11 (TBX6 gene), 17q12 (LHX1 and HNF1B genes), 22q11.21, and Xp22. Although the etiology of MRKH syndrome is complex, associated clinical features can aid in the identification of a specific genetic defect.

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