Abstract:
STUDY OBJECTIVE:To learn the relationship between X;autosome chromosome translocation and hypoplastic external genitalia. BACKGROUND:An X;autosome translocation usually presents with phenotypic features similar to Turner syndrome. PARTICIPANTS:We present three female siblings and their mother with X;autosome translocation and hypoplastic external genitalia. METHODS:Case presentation. RESULTS:Three female siblings, ages 14, 16, and 18 years, presented for routine checkup. All had been seen in the past for short stature, learning disability, and other features similar to those seen in Turner syndrome. At time of presentation, all three had primary amenorrhea. On genital exam, each was found to have hypoplastic external genitalia with absent clitoris and labia minora. Pelvic ultrasound in all subjects showed normal but prepubertal uterus and ovaries. Two subjects have unbalanced translocations with karyotype 46,X,der(9)t(9;X)(q11.2;q22.3). This abnormal chromosome complement results in the loss of the short arm of the X chromosome and the gain of an extra copy of the long arm of chromosome 9. The third subject and her mother have balanced translocations with the karyotype 46,X,t(9;X)(q11.2;q22.3). X-inactivation studies showed skewed inactivation of the normal X chromosome in the balanced translocation carriers, while the two girls with the unbalanced karyotype had skewed inactivation of the translocation product. All subjects have growth hormone deficiency. The oldest sibling was able to menstruate regularly after estrogen/progesterone therapy. The other two patients are currently receiving growth hormone and are gaining height. CONCLUSION:X;autosome translocations may be associated with hypoplastic external genitalia but normal internal genitalia. Balanced carriers can be fertile. To our knowledge, the presence of hypoplastic external genitalia in association with X;autosome translocation has not been previously reported. This should be added to the possible causes of hypoplastic external genitalia.
journal_name
J Pediatr Adolesc Gynecoljournal_title
Journal of pediatric and adolescent gynecologyauthors
Omar HA,Hummel M,Jones EA,Perkins KCdoi
10.1016/s1038-3188(99)00011-xsubject
Has Abstractpub_date
1999-08-01 00:00:00pages
161-4issue
3eissn
1083-3188issn
1873-4332pii
S103831889900011Xjournal_volume
12pub_type
杂志文章abstract:PURPOSE OF REVIEW:We adopted a life-cycle approach to further our understanding of the natural history of the cystic forms of uterine adenomyosis first described by Cullen in 1908. SEARCH STRATEGY:Scopus and PubMed were searched for all terms referring to cystic variant of adenomyosis or adenomyoma. References found i...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.jpag.2014.05.008
更新日期:2015-12-01 00:00:00
abstract:STUDY OBJECTIVE:To explore the potential occurrence of long-term side effects and tolerability of gonadotropin-releasing hormone agonist (GnRHa) plus 2 different add-back regimens in adolescent patients with endometriosis. DESIGN:Follow-up questionnaire sent in 2016 to patients who participated in a drug trial between...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jpag.2018.03.004
更新日期:2018-08-01 00:00:00
abstract::Acquired and inherited platelet disorders can present with bleeding symptoms during adolescence. Platelet disorders include disorders of platelet number and disorders of platelet function. In adolescent females with platelet disorders, menorrhagia is a common presenting bleeding symptom. Other associated bleeding symp...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2010.08.012
更新日期:2010-12-01 00:00:00
abstract:STUDY OBJECTIVE:To investigate the racial/ethnic differences in the correlates of spontaneous and medically-indicated late preterm birth (LPTB), defined as deliveries between 34 0/7 and 36 6/7 weeks gestation, among US adolescents. DESIGN:Population-based, retrospective cohort study. SETTING:Births in the United Stat...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2016.08.004
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:Sarcoma botryoides of the female genital tract is a rare malignancy. For many years, treatment consisted of radical procedures involving removal of the vagina, cervix, and uterus. Reconstructive surgery is essential for these patients, in order to achieve vaginal penetrative sexual intercourse. CASE:A 17-ye...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2013.12.004
更新日期:2014-08-01 00:00:00
abstract:STUDY OBJECTIVE:To determine if pregnant adolescents interested in group-based prenatal care have different demographic and psychosocial characteristics than those interested in individual prenatal care. Factors that influence the preferred model of prenatal care patients were assessed. DESIGN, SETTING, AND PARTICIPAN...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2015.03.006
更新日期:2015-12-01 00:00:00
abstract:STUDY OBJECTIVE:The purpose of the study was to determine if barriers in rural areas might decrease an adolescent's likelihood of obtaining effective contraception. Previous studies have reported mixed results in comparisons of rural and urban contraception use. DESIGN:Electronic survey. SETTING:Midwestern Public Uni...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2015.06.002
更新日期:2016-02-01 00:00:00
abstract:STUDY OBJECTIVE:Intrauterine device (IUD) utilization in the United States is low among adolescent and young adult women. Longer procedure duration has been proposed as one potential barrier to IUD insertion in this population. We hypothesized that procedure duration would be longer in adolescents compared to young adu...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.jpag.2019.01.002
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Alkaline batteries are known to cause caustic burns to the esophagus when ingested. We report a case of alkaline burns to the vagina. CASE:A 13-year-old female presented to the Emergency Department with abdominal pain. She was admitted for necrotic vaginal burns after batteries were removed from her vagina....
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2008.10.009
更新日期:2009-10-01 00:00:00
abstract::The objective of the study was to determine if any anthropometric measurements, including weight, height, and upper arm circumference, or the calculated body mass index observed at the time of menarche may be used as a threshold for menarche. The sample was randomly selected from 1133 girls aged 10-18 years from two g...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/s1083-3188(96)70024-4
更新日期:1996-08-01 00:00:00
abstract:OBJECTIVE:To prospectively identify psychosocial predictors of pregnancy among African-American adolescent females. METHODS:African-American females, 14-18 yrs old, were recruited from schools and health clinics in low-income neighborhoods. Adolescents completed an in-depth survey and provided urine specimens for preg...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/s1083-3188(02)00195-x
更新日期:2002-12-01 00:00:00
abstract:STUDY OBJECTIVE:To describe the prevalence and correlates of vaginal douching among urban African American adolescents and to examine the association between douching and sexually transmitted infection (STI) status. DESIGN:Demographic, psychosocial, and behavioral data were collected through cross-sectional, self-admi...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2011.07.017
更新日期:2012-02-01 00:00:00
abstract:BACKGROUND:Although paratubal cysts are common, borderline paratubal cysts are extremely rare. We describe the case of a large borderline paratubal cyst in a 17-year-old adolescent female treated with laparo-endoscopic single-site surgery (LESS), and review the literature. CASE:A 17-year-old female was referred due to...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.jpag.2014.07.012
更新日期:2016-02-01 00:00:00
abstract:STUDY OBJECTIVE:Adolescent compliance with cytologic and histologic cervical abnormalities is poor. Recent changes in abnormal cytology follow-up and colposcopy indications in young women may delay the diagnosis of cervical dysplasia. The objective of our study was to determine the compliance with follow up. We also wa...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2008.08.003
更新日期:2009-06-01 00:00:00
abstract:STUDY OBJECTIVES:To assess the effectiveness of fennel on primary dysmenorrhea symptoms and menorrheal duration. DESIGN:Clinical trial study. SETTING:Islamic Azad University, Toyserkan. PARTICIPANTS:80 female students were randomly divided in to two groups of intervention (n = 40) and control (n = 40). INTERVENTION...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jpag.2013.12.003
更新日期:2014-10-01 00:00:00
abstract:STUDY OBJECTIVE:To determine pelvic inflammatory disease (PID) incidence and recurrence rates in an urban teen clinic. DESIGN/SETTING:A retrospective chart review of female patients seen as outpatients over an 18-month period at an urban teen clinic. 192 patients were diagnosed with PID, and the charts of these patien...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2004.09.017
更新日期:2004-12-01 00:00:00
abstract:STUDY OBJECTIVE:To evaluate the utility of transabdominal ultrasound and magnetic resonance imaging in the evaluation of American Society for Reproductive Medicine (†)(ASRM)-classified müllerian anomalies compared to surgical findings in the pediatric and adolescent population. DESIGN:Retrospective chart review. SETT...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2011.12.069
更新日期:2012-06-01 00:00:00
abstract::The clinical setting of pediatric and adolescent gynecology poses complex tasks for the physician with its numerous procedures and the communication demands of interacting with an adolescent and/or guardian. Needless to say, teaching within this setting is highly demanding. Regardless of the level of learner or the pr...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.jpag.2013.09.013
更新日期:2014-08-01 00:00:00
abstract:STUDY OBJECTIVE:We evaluated factors associated with physicians' intentions to perform Pap smears in human papillomavirus-vaccinated women. DESIGN:Physicians were mailed a survey asking about intentions to change cervical cancer screening based on patients' human papillomavirus vaccination status. PARTICIPANTS:A nati...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2012.07.004
更新日期:2012-12-01 00:00:00
abstract::A 13-year-old female adolescent presented with pelvic pain localized in the right lower abdominal quadrant with diffusion to the groin and internal thigh and worsened by marked leg abduction. No symptoms were detected on physical or sonography examination. The patient reported pain for a further 4 months with no moder...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/s1083-3188(98)70141-x
更新日期:1998-11-01 00:00:00
abstract:STUDY OBJECTIVE:To provide initial insight into physical activity patterns and predictors of moderate to vigorous physical activity (MVPA) in youth with polycystic ovary syndrome (PCOS) by using a multisensor activity monitor. DESIGN:Cross-sectional study analyzing baseline MVPA data using real-time continuous monitor...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2014.10.010
更新日期:2015-10-01 00:00:00
abstract:STUDY OBJECTIVE:Survival into adulthood is now a reality for many adolescents facing cancer. Fertility preservation (FP) is rapidly advancing, but oncology providers and health systems struggle to incorporate the newest FP technologies into the clinical care of adolescents. Our objective was to systematically review an...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.jpag.2016.04.005
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Ewing sarcoma is considered to have a poor prognosis. Recent advances in multidisciplinary management have resulted in a marked improvement in long-term survival. CASE:We describe a case of successful pregnancy in a patient who underwent sacrectomy combined with multi-agent chemotherapy and radiotherapy for...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.jpag.2014.06.009
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:Recurrent adnexal torsion rarely affects girls. Various surgical techniques for its prevention are available. We describe a case of recurrent asynchronous bilateral torsions in a prepubertal patient. CASE:An 8-year-old girl first presented with a right adnexal torsion and underwent a laparoscopic untwisting...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.jpag.2013.01.060
更新日期:2013-06-01 00:00:00
abstract::The concept of the ovarian cycle as a continuum considers that all types of ovarian activity encountered during the reproductive life are responses to different environmental conditions in order to ensure the health of the woman. During the normal ovulatory cycle, a series of sequential events have to occur in a highl...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2006.02.003
更新日期:2006-06-01 00:00:00
abstract:OBJECTIVE:To examine menstrual patterns and effects of menstrual disorders on social and academic lives of undergraduate students in Kano, Nigeria. PARTICIPANTS:Students attending Bayero University Kano, Nigeria (n = 383). INTERVENTION:Self-administered questionnaires. MAIN OUTCOME MEASURES:Sociodemographic characte...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2012.08.006
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:Upper-extremity ovarian autologous transplantation was first used for girls undergoing abdominal/pelvic radiation therapy; long-term follow-up is provided. DESIGN:A case series. SETTING:Tertiary pediatric medical center. PATIENTS:Girls with Wilms tumor with planned abdominal/pelvic radiation therapy. INTE...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2009.09.005
更新日期:2010-04-01 00:00:00
abstract:STUDY OBJECTIVE:To investigate an association between pubertal development and timing of menarche with glycemic control, disease duration, and body mass index (BMI) in patients diagnosed with diabetes mellitus type 1 (DM1) before puberty. DESIGN:Retrospective study. SETTING:The study was performed at the diabetes out...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2014.08.009
更新日期:2015-02-01 00:00:00
abstract:STUDY OBJECTIVE:To assess the effect of providing standardized counseling to improve the rates of contraception initiation and utilization among detained young women. This was a quality improvement (QI) project conducted at a large urban juvenile short-term detention center. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 杂志文章
doi:10.1016/j.jpag.2018.01.002
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:The science of medicine is a constantly evolving process that builds on the experiences and observations of the past. We hypothesized that the issues of pediatric and adolescent gynecology were also of concern to physicians practicing in the 19th century. We sought to determine the extent to which our forebe...
journal_title:Journal of pediatric and adolescent gynecology
pub_type: 历史文章,杂志文章
doi:10.1016/s1083-3188(97)70083-4
更新日期:1997-11-01 00:00:00