1.45X, 46XY mosaicism presenting with virillization in puberty
Hannah Faye Magdoboy-Derla ; Marites A. Barrientos
Philippine Journal of Reproductive Endocrinology and Infertility 2024;21(2):31-38
Disorders of sex development (DSD) are characterized by atypical development of chromosomal, gonadal, or phenotypic sex. 45X,46XY mosaicism is a type of sex chromosome DSD which presents with a wide heterogeneity of manifestations. We report the case of a 13-year-old phenotypically female who presented with clitoromegaly at puberty. Testosterone level was elevated on serology. Out of the 50 cells examined, 43 cells had Monosomy X while 7 cells had a normal male karyotype. She was managed by a multidisciplinary team. Due to the presence of Y chromosome, the solid nodular structure seen on the right gonad in magnetic resonance imaging and the pain caused by the phallus, Laparoscopic bilateral gonadectomy, salpingectomy and clitoroplasty were done after a shared decision making. Histopathology revealed Gonadoblastoma and Germ cell neoplasia-in-situ of the right gonad justifying timely removal. She was then maintained on estrogen for induction of secondary sexual characteristics.
Human ; Female ; Adolescent: 13-18 Yrs Old ; Mosaicism ; Virilism ; Virilization ; Sex Chromosome Disorders Of Sex Development
2.Primary bilateral tubal pregnancy: A case report and review of literature
Maria Reichenber C. Arcilla ; Marietta S. Sapaula ; Marites A. Barrientos ; Ma. Asuncion A. Fernandez
Philippine Journal of Reproductive Endocrinology and Infertility 2017;14(2):40-54
Ectopic pregnancy is one of the leading causes of maternal morbidity and mortality worldwide,
as seen in 9 to 13% and up to 30% of maternal deaths in developed and developing countries,
respectively. Bilateral tubal pregnancy is an exceedingly rare condition with an even greater
risk of rupture and hemorrhage than that of the unilateral type. This is a case of a 32 yearold G4P3 (4004) who presented with amenorrhea of 5 weeks, vaginal bleeding, and abdominal
pain. The triad of symptoms, elevated serum β-HCG levels, along with a transvaginal
ultrasound finding of a right adnexal mass led to the impression of a ruptured ectopic
pregnancy, probably tubal. Patient underwent laparoscopy and intraoperative findings
revealed bilateral tubal pregnancy for which bilateral salpingectomy was done. Oftentimes, as
in this case, bilateral tubal pregnancy is diagnosed intraoperatively. However, it is possible,
as seen in a review of cases, that a combination of history, symptoms, and clinical findings may
point to a probable diagnosis which is imperative in treatment planning. Bilateral tubal
pregnancy is rare, but due to a rise in pelvic inflammatory disease, its consequences, and the
advent of assisted reproductive techniques, the risk for this condition increases with important
clinical implications.
Pregnancy, Ectopic