Oluyemisi Adeyemi-Fowode

Gynecologic findings in Goltz syndrome: A case series.

There is limited information available related to the gynecologic findings in Goltz syndrome. We report exclusively on external genitalia findings in 17 girls with a known diagnosis of focal dermal hypoplasia. This is the largest series to date. Some of our findings have been reported previously; however, some novel features including short perineum body not previously mentioned are noted as well. We recommend referral to a pediatric gynecologist for early evaluation of the reproductive tract as this can have an impact on the future fertility of these girls.

Case of a Girl with Primary Amenorrhea, Cyclic Pelvic Pain, and Absent Vagina

Menstruation requires a patent outflow tract (uterine corpus, cervix and vagina). The most common cause of primary amenorrhea, after gonadal dysgenesis, is Mullerian agenesis, also referred to as Mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. It results from the embryologic growth failure of the Mullerian ducts with resultant agenesis of the vagina and an absent or rudimentary uterus. There are various clinical presentations of this anomaly due to varying degrees of uterine aplasia and simultaneously affected systems. Vaginal agenesis may occur in conjunction with certain disorders of 46XY sexual differentiation such as mixed gonadal dysgenesis (MGD), complete androgen insensitivity syndrome (CAIS), and partial androgen insensitivity syndrome (PAIS). When a Mullerian duct anomaly is suspected, imaging is essential for diagnosis and management and to direct reproductive counseling. Strategies for managing this condition range from nonsurgical to surgical options and really depend upon patient readiness. Women with MRKH are candidates for in vitro fertilization with a surrogate gestation carrier.

Maternal placentophagy as a possible cause of breast budding and vaginal bleeding in a breast-fed three month old

BACKGROUND Placentophagy, or the practice of placental consumption, has grown in popularity over the past decade. Although advocates endorse prevention of postpartum depression, increased breast milk production, reduction in postpartum bleeding, and provision of nutrients postpartum, scientific studies have failed to show benefit. No studies have explored the effect of placental hormone consumption on the hypothalamic-pituitary-ovarian axis of the offspring. CASE We present a case of vaginal bleeding and breast budding in a 3-month-old infant whose mother was exclusively breastfeeding. Maternal history was notable for placentophagy. Upon discontinuation of consuming encapsulated placenta, the infants vaginal bleeding resolved. SUMMARY AND CONCLUSION Our case raises concerns regarding placentophagy and infant endocrine function. More research is needed to assess maternal and infant exogenous estrogen exposure with maternal placental consumption.

Medical child abuse: a case presenting as ano-genital bleeding of unknown origin in an older child.

BACKGROUND Medical child abuse is a challenging diagnosis to make, particularly in older children with unusual presenting symptoms. CASE A 7-year-old child with complex medical history presented with anogenital bleeding of unknown origin. Extensive laboratory testing, imaging studies, and diagnostic procedures were negative for any etiology. Forensic testing confirmed the blood in her underwear was a genetic match to the patient. Trial separation from the mother was diagnostic and therapeutic in this case. SUMMARY AND CONCLUSION Older children who are victims of medical child abuse might present in a variety of ways, and might even collaborate with the perpetrator in falsifying symptoms. It is important to keep medical child abuse on the differential when the patients symptoms and work-up do not match.