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A rare case of an Isochromosome Mosaic Turner Syndrome

Sarah Danielle T. Gatchalian ; Marian C. Dichoso

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(1):1-8.

Turner syndrome is characterized by a complete or partial absence of one X chromosome. The most common karyotype is 45,X0. A variant of Turner syndrome is Isochromosome Mosaic Turner syndrome which presents with an abnormality of the chromosome structure. This is a case of a 22 year old female who presented with short neck, widely spaced nipples, low posterior hairline, absence of nose bridge, minimal axillary hair and underdeveloped breasts. Ultrasound examination showed an infantile uterus with small ovaries. Her karyotype showed an isochromosome of the long arm of the X chromosome and the remaining eight cells showed a loss of one X chromosome, resulting in monosomy X (ISCN: 46,X,i(X)(q10)[42]/45,X[8]). Hormonal evaluation showed a hypergonadotropic and hypogonadism state. Test results for auditory, ophthalmologic, cardiac and renal functions were all within normal limits. The patient was diagnosed with isochromosome mosaic Turner syndrome and started on hormonal therapy.
Turner Syndrome

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A Case of Androgen Insensitivity Syndrome with Intraabdominal Testes in a 62 year old woman

Kesiah Keren Bugante-Mercado ; Leedah Ranola - Nisperos

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(1):9-15.

Androgen Insensitivity Syndrome (AIS) is a disorder wherein a patient presents with a female phenotype but is actually genetically male with an XY karyotype. Typically, AIS is diagnosed at the beginning of second decade, when a phenotypically female patient complains of amenorrhea. It is extremely rare to make a first diagnosis of AIS after the fifth decade of life. This case report presents a 62-year old female who consulted because of primary amenorrhea and intraabdominal mass. Patient was diagnosed with Complete Androgen Insensitivity Syndrome based on physical exam findings, imaging studies, endocrine tests and karyotyping. She underwent exploratory laparotomy, adhesiolysis and bilateral orchiectomy. This report will discuss diagnosis and appropriate management of patients with Complete Androgen Insensitivity.
Androgen-Insensitivity Syndrome

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A second glance on Cervicovaginal Agenesis

Charise Mae C. Malabanan ; Kesiah Keren Bugante-Mercado ; Leedah Ranola-Nisperos

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(1):16-21.

Mullerian anomalies arise from the failure in the development of Mullerian ducts and their associated structures during organogenesis which confers adverse impact in fertility and reproductive health. Presented is a rare case of a 15 year old nulligravid, who presented with a chief complaint of severe cyclic hypogastric pain associated with primary amenorrhea. Complete clinical history, physical examination and sonographic findings pointed to a diagnosis of cervical hypoplasia associated with functioning uterine corpus and an absent vagina. Patient underwent total abdominal hysterectomy with left salpingectomy and bilateral oophorocystectomy, for hematometra, bilateral endometriotic cysts, and hematosalpinx. This case report discusses the management of cervicovaginal agenesis through a multidisciplinary approach by a team composed of an obstetrician-gynecologist, reproductive endocrinologist, pediatrician, and pediatric surgeon for proper evaluation, diagnosis, and management of this case.
Hematometra

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Expectant management of heterotopic pregnancy

Anna Romina A. Anchores ; Barbara Ann B. Coma ; Ina S. Irabon

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(1):22-28.

Heterotopic pregnancy or the coexistence of an intrauterine and an extrauterine pregnancy occurs in about 1 out of 30,000 pregnancies. Between assisted reproductive techniques and ovulation induction, it is said to occur more commonly with the former. The patient presented in this case is a 29 year old primigravid who underwent ovulation induction with clomiphene citrate and was later on diagnosed to have both an intrauterine and a non-viable extrauterine pregnancy. The management for this kind of pregnancy can be medical, surgical or expectant. The patient in this case was managed expectantly. This case study presents a review of literature on heterotopic pregnancy, and describes how this rare type of pregnancy developed in this index patient, how it is diagnosed and managed, and to showcase how expectant management can be a safe option for cases of heterotopic pregnancy.
Pregnancy, Heterotopic ; Pregnancy, Ectopic ; Clomiphene

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Novel use of GnRH agonist as neoadjuvant treatment for giant endometrial polyps

Diana J. Cupino-Arcinue ; Regina Paz Tan-Espiritu

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(2):29-36.

Endometrial polyp, being one of the most common causes of abnormal uterine bleeding, is formed from localized overgrowths of endometrial tissue brought about by increased estrogen levels. Sizes of polyps usually are less than 2cm, while those >4 cm are labeled as giant polyps. Such polyps can even occupy the entire endometrial cavity, making complete hysteroscopic removal difficult and prone to failure and morbidity. Limited literature regarding use of GnRH agonist in endometrial polyps are published, but given the idea that it induces a state of hypoestrogenism, it could be a promising approach for neoadjuvant treatment in such cases. In this paper, 3 cases of giant endometrial polyps with fertility problems were given GnRH agonists prior to resection. All cases have shown significant decrease in size of their polyps, making complete and successful hysteroscopic removal feasible.
Neoadjuvant Therapy ; Polyps

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A variant of Herlyn Werner Wunderlich Syndrome

Carmela Joy P. Aquino-Cabral ; Gladys G. Tanangonan

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(2):37-41.

Herlyn Werner Wunderlich Syndrome is a rare congenital Mullerian anomaly that commonly presents with uterine didelphys, obstructed hemivagina and ipsilateral renal agenesis. Presented here is a rare variant with contralateral dysplastic kidney with ectopic ureteral insertion instead of renal agenesis. The patient initially presented as a case of recurrent pelvic inflammatory disease who eventually underwent excision of vaginal septum with drainage of pyocolpos. Postoperatively, the patient had urinary incontinence and was eventually referred to Urology for further surgical intervention. The wide range of symptomatology and the uncommon anatomic presentation of this case led to the delay in the diagnosis and the consequent gynecologic complications.
Uterine Anomalies

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Non-classical congenital adrenal Hyperplasia with accompanying congenital anomalies: Vaginal atresia, left kidney agenesis, and urogenital malformations

Illoza Joy P. Bellosillo ; Lucia Susan Lucia Susan N. Antonio

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(2):42-53.

A 16-year-old male-looking patient presented at the emergency room for severe abdominal pain. Physical examination revealed acute abdomen, ambiguous genitalia, empty rectal vault with watery discharge and right lower quadrant palpable mass. Ultrasound showed a uterus and right adnexal mass. General surgery evaluated urethral patency and noted presence of recto-urethral fistula. Surgical exploration, right salpingo-oophorectomy and suprapubic cystostomy were done. Immediate referral to a reproductive endocrinologist was done postoperatively. Retrograde urethrogram and cystogram revealed neurogenic bladder with fistula formation. On follow up, whole abdomen MRI revealed thickened endometrium with fluid levels, tortuous left fallopian tube, multiloculated left adnexal mass and left renal agenesis. Serum levels of 17-hydroxyprogesterone and cortisol were noted to be elevated and karyotyping revealed 46 XX. Patient then underwent psychiatric evaluation and assessment. Patient was readmitted for urology and pediatric surgery diagnostic work up. However, regardless of the findings, patient decided not to undergo further surgeries and opted to be female.
Hyperplasia ; Vagina, absence of

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"Double Trouble": A case of precocious puberty with concomitant malignant gluteal mass

Pisces Jean Alunes-Chog-ap ; Thea Zola B. Cariaga

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(2):54-62.

Precocious puberty is the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal. The causes may range from a variant of normal development to pathologic conditions such as glands that function abnormally early in life. This is a case of a seven year old female with clitoromegaly, early menarche and a gluteal mass accompanied by elevated 17-hydoxyprogesterone and decreased level of cortisol which supports the diagnosis of congenital adrenal hyperplasia. Gluteal mass cytological features are consistent with a malignant round cell tumor.
Puberty, Precocious

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Application of the Ianieri Hysteroscopic risk scoring system for diagnosing endometrial Hyperplasia and Carcinoma among Filipino women who underwent hysteroscopy for abnormal uterine bleeding and thickened endometrium in a tertiary hospital

Niñ ; a Patricia Gaerlan-Revecho ; Grace Caras-Torres

Philippine Journal of Reproductive Endocrinology and Infertility.2018;15(2):63-72.

Objective: To determine the diagnostic accuracy of the Ianieri Hysteroscopic Risk scoring system (IHRSS) in the diagnosis of endometrial hyperplasia and endometrial carcinoma among Filipino women who underwent hysteroscopy for abnormal uterine bleeding and thickened endometrium in a tertiary hospital Patients and Methods: This is a cross-sectional study (chart review) of patients who underwent hysteroscopy for abnormal uterine bleeding and thickened endometrium in a tertiary hospital from Aprill 2015-December 2017. Hysteroscopic videos were viewed and scored according to the Ianieri Hysteroscopic Risk Scoring System (IHRSS) and compared to histopathologic reports. Sensitivity, specificity, Positive and Negative Predictive Values were computed for 4 categories: 1) Normal Endometrium (NE); 2) Non-Atypical Hyperplasia (EH); 3) Atypical Hyperplasia (AEH); and 4) Endometrial Carcinoma (EC). Results: This paper showed showed a sensitivity and specificity of 94.6% and 82.5% for NE; 66.7% and 98.4% for EH; 100% and 98.4% for AEH; and 100% and 100% for EC. The positive predictive values and negative predictive values were 96.5% and 75% for NE, 63.6% and 96.5% for EH, 57.4% and 100% for AEH, and 100% and 100% for EC. Conclusion The IHRSS showed good diagnostic accuracy in diagnosing endometrial carcinoma and hyperplasia among patients who presented with abnormal uterine bleeding. This may prove to be a good diagnostic tool for hysteroscopists and may aid in intraoperative clinical and surgical judgment.

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Interobserver variability on hysteroscopic findings of patients with endometrial hyperplasia

Mary Carmona ; Gay Luz M. Talapia ; Marie Victoria Cruz-Javier

Philippine Journal of Reproductive Endocrinology and Infertility.2019;16(2):40-47.

Background: Endometrial hyperplasia is a common gynecologic disorder seen in the clinics. Among patients with endometrial hyperplasia, an estimated 5-10% have underlying malignancy hence early diagnosis and management is important. Hysteroscopy, regarded as the gold standard for diagnosing intrauterine abnormalities, enables accurate study of the endometrial surface as well as target eye biopsy during the same procedure. These eye-directed biopsies have a high accuracy in the hands of experienced operators, but accuracy of this technique is dependent on recognition of suspected endometrial pathology.1 Objective: The objective of this study is to ascertain inter-observer agreement in describing hysteroscopic findings among patients with endometrial hyperplasia Methodology: This is a prospective interobserver study of gynecologists from the Department of Obstetrics and Gynecology, St. Luke’s Medical Center. Three invited, consenting gynecologists reviewed 22 hysteroscopy recordings with histologic diagnosis of normal endometrium or endometrial hyperplasia from the files of the section of Minimally Invasive Gynecologic Surgery. Then, evaluation of the hysteroscopy recordings was conducted using an assessment form containing questions about the quality of the recording, characteristics of the endometrium, and their diagnoses. The final outcome of this study is the inter-observer agreement among hysteroscopists in describing hysteroscopic findings of patients with endometrial hyperplasia. Results: There is a wide gap in the interobserver agreement between hysteroscopists in describing hysteroscopic findings of patients with endometrial hyperplasia. However, the interobserver agreement was found to be substantial among participants in identifying the correct diagnosis. Conclusion A clear, systematic and standard way of identifying and describing hysteroscopic findings should be developed and instituted for use among hysteroscopists and hysteroscopy training programs. This will help in precisely identifying the areas where adequate sampling should be done.
Endometrial Hyperplasia ; Hysteroscopy

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