Genital GVHD in Female Children and Adolescents: A Systematic Review of Case Reports and Case Series.

Genital graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation (HSCT) is an underdiagnosed manifestation of chronic GVHD. Few articles have been published in pediatric populations, and there are no established guidelines for the management of this condition in children. This study aims to provide a systematic literature review of the published studies and cases of genital (vulvovaginal) GVHD in girls and adolescents post HSCT, with a focus on the time of diagnosis and clinical manifestations. The authors searched for English-language articles published after 1990, which included full patient details. Thirty-two cases of female patients under 20 years of age were identified. The median time of diagnosis was 381 days (IQR: 226-730 days), and 83% of patients developed Grade 3 vulvovaginal GVHD. Based on these observations, an early pediatric gynecologic examination of these patients, soon within the first year after HSCT, could be suggested for early diagnosis, treatment initiation and prevention of long-term complications.

Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.

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.

The Use of Norethisterone for the Treatment of Severe Uterine Bleeding in Adolescents: An Audit of Our Experience.

STUDY OBJECTIVE: The purpose of this prospective study was to assess the effectiveness of norethisterone (NET) in the management of abnormal uterine bleeding (AUB) in adolescents in a tertiary care center. DESIGN: This was a prospective audit focused on administering high doses of NET in female adolescents with complaints of AUB. SETTING: We included female adolescents who presented to our Emergency Gynecological Department or Adolescent Gynecological Outpatient Department from October 2016 to January 2019. PARTICIPANTS: The study included 29 female adolescents aged 11-17 (mean, 13.14) years. INTERVENTIONS: Patients were administered a daily dose of 10-30 mg, depending on the severity of the condition, bleeding duration, and patient weight. MAIN OUTCOME MEASURES: Cessation of vaginal bleeding. RESULTS: Mean age at menarche of our patient sample was 11.4 years (range, 10.7-14 years). AUB presented at a mean time of 24.6 months after menarche (range, 0-79 months). Blood transfusion was deemed necessary in 9 patients. Bleeding stopped at a mean of 46.1 (range, 8-120) hours after onset of treatment with NET. No serious adverse events were reported with NET administration, with only 3 cases of minor side effects. CONCLUSION: The use of NET is an effective and reliable treatment option among adolescents for whom control of AUB is desired in the acute setting.