Fetal Transient Clitoromegaly and Transient Hypertrophy of the Labia Minora in Early and Mid Pregnancy

Abstract

Objective The purpose of this study was to describe a series of cases of transient changes in the female fetal external genitalia. Methods In our practice area, most pregnant women usually undergo a detailed sonographic survey of all fetal organs, including the external genitalia in early and mid pregnancy. Results During the study period (1987–2010), 62,145 consecutive pregnant women were scanned. We detected 4 fetuses with an isolated finding of clitoromegaly at 15 to 16 weeks' gestation, which disappeared at 22 to 26 weeks. Maternal hormonal study results were normal. There was 1 case of clitoromegaly and a cloacal anomaly at 15 weeks' gestation, in which the clitoris retuned to a normal size at 22 weeks. In addition, there were 3 cases of hypertrophy of the labia minora in early pregnancy, which disappeared at 26 to 32 weeks. All fetuses in these series had a normal XX karyotype and normal external genitalia at birth. Conclusions Transient changes in the appearance of the fetal external genitalia may occur in chromosomally normal female fetuses.

The Development of Normal Fetal External Genitalia Throughout Gestation

“…It is very important to note that clitoromegaly can be transient in normal fetuses, as described by Zimmer et al 32 In addition, a hood of fibrous tissue overlying the clitoris can simulate clitoromegaly (Figure 9). Cheikhelard et al showed that prenatal diagnosis of DSD was only accurate in 46% of female fetuses in 2000 33 …”

Clitoromegaly in Premature Infants: Is It Truly Pathologic?

“…In the immediate postnatal period (6-10 weeks), premature female infants have been shown to have considerably higher LH and FSH levels compared to term infants indicating an interruption in maturation of hypothalamic-pituitary-gonadal axis caused by premature birth [34]. Zimmer et al [35] described 5 cases of fetal transient clitoromegaly noted at 15-16 weeks gestation on obstetric ultrasound (US) with disappearance of clitoromegaly by 22-26 weeks gestation and normal female external genitalia at birth. Similarly, prenatal sonographic diagnosis of clitoromegaly in 16 patients at mean GA of 26.5 weeks was postnatally confirmed in only 6 patients indicating possibility of transient fetal clitoromegaly [36].…”

Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal

“…Como hemos visto, existen muchos trabajos desperdigados en la literatura científica a lo largo del tiempo en forma de editoriales, casos clínicos, cartas de investigación, e incluso estudios originales. Es posible encontrar casos prenatales de tumores testiculares malignos (78), dilataciones peneanas congénitas (79), discordancias entre el sexo cromosómico y ecográfico (80), torsiones testiculares intrauterinas (81), hipertrofias de labios y clítoris (82). Igualmente, disponemos de algunos documentos ya mencionados que sistematizan la información, como los editoriales y algoritmos de trabajo (1,26,27).…”

“…Incluiríamos entre nuestras necesidades las tablas de referencia, mediciones estandarizadas, cortes ecográficos o metodologías de trabajo. Ello requeriría, entre otros aspectos, la realización de estudios prospectivos con mediciones ecográficas seriadas de la anatomía genital femenina y masculina similares a algunos publicados (2,82,83). Y dado que las guías ecográficas no hacen indicaciones sobre la metodología de trabajo (53), abordar propuestas como el corte perineal sagital medio (54) o desarrollar nuevas.…”