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1.
Acta Med Indones ; 55(4): 460-464, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38213048

RESUMEN

A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner's stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.


Asunto(s)
Disgenesia Gonadal Mixta , Femenino , Humanos , Adulto Joven , Genitales , Disgenesia Gonadal Mixta/genética , Hibridación Fluorescente in Situ , Cariotipificación , Testículo
2.
Int J Gynaecol Obstet ; 163(3): 720-732, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37837343

RESUMEN

Endometriosis should be diagnosed as early as possible in the continuum of care; but substantial delays of approximately 6-8 years between symptom onset and endometriosis diagnosis have been widely reported. With the purpose of improving the prompt diagnosis of endometriosis, the Asia-Pacific Endometriosis Expert Panel (APEX) sought to address the reasons for diagnostic delays across the region, and formulate a multi-pronged approach to overcoming these challenges. In the first instance, clinical diagnosis is preferable to surgical diagnosis, in order to facilitate earlier empirical treatment and minimize the negative sequelae of undiagnosed/untreated disease. There should be a high clinical index of suspicion in women presenting with cyclical symptoms, including those involving extrapelvic organs. Diagnostic delays in Asia-Pacific countries are attributable to a variety of patient, physician, and healthcare factors, including poor awareness, normalization/trivialization of pain, individual/cultural attitudes toward menstruation, default use of symptom-suppressing treatments, misdiagnosis, and a lack of diagnostic resourcing or adequate referral pathways in some areas. Suggested initiatives to reduce diagnostic delays are geared toward improving public awareness, improving clinical diagnostic skills, streamlining multidisciplinary care pathways for timely referral, updating and implementing diagnostic guidelines, lobbying policymakers and insurance companies for endometriosis support, and increasing efforts to bridge data gaps and perform further research in this field. Formulating specific action plans and gathering traction are the responsibility of individual countries within local parameters. The APEX group advocates for any initiatives and policies that support the unmet needs of women with endometriosis, to improve patient experience and outcomes.


Asunto(s)
Endometriosis , Humanos , Femenino , Endometriosis/diagnóstico , Endometriosis/terapia , Consenso , Asia , Menstruación , Dolor
3.
Int J Reprod Biomed ; 18(12): 1065-1072, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33426417

RESUMEN

BACKGROUND: Poor ovarian reserve and a high rate of pregnancy failure associated with low quality and quantity of oocytes are observed in poor responders to in vitro fertilization. OBJECTIVE: To assess the effect of age, body mass index (BMI), endometriosis, and history of ovarian surgery on ovarian reserve in a group of poor responders. MATERIALS AND METHODS: In this cross-sectional study 749 women who referred to Yasmin Clinic of Dr. Cipto Mangunkusumo National General Hospital from January 2013 to June 2017 were enrolled. Two definitions of poor responders and Poseidon criteria and consecutive sampling techniques were used. Participants were divided into good and poor responder groups based on the ovarian reserve test; participant with oocyte ≤ 3 was classified as a poor responder. Based on this, 188 participants with nine (4-47) oocytes were included in the poor responder group. While, good responder comprised of two (0-3) oocytes. RESULTS: Age and anti-Mullerian hormone level (AMH) were significantly associated with ovarian reserve in the poor-responder group (p < 0.001). However, in multivariate analyses, age was the only significant predictor of ovarian response in the poor-responder group (p = 0.004). While endometriosis was the significant predictor of Poseidon groups 1 and 4, surgical history was the significant predictor of Poseidon groups 2 and 3. Meanwhile, an increase in BMI decreased the risk of classification under Poseidon group 3. CONCLUSION: Age, AMH, BMI, endometriosis, and history of ovarian surgery affected the risk of classification of the Poseidon group.

4.
Clin Exp Reprod Med ; 43(4): 207-214, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28090459

RESUMEN

OBJECTIVE: This study aimed to determine the threshold of anti-Müllerian hormone (AMH) as predictor of follicular growth failure in polycystic ovary syndrome (PCOS) patients treated with clomiphene citrate (CC). METHODS: Fifty female subjects with PCOS were recruited and divided into two groups based on successful and unsuccessful follicular growth. Related variables such as age, infertility duration, cigarette smoking, use of Moslem hijab, sunlight exposure, fiber intake, body mass index, waist circumference, AMH level, 25-hydroxy vitamin D level, and growth of dominant follicles were obtained, assessed, and statistically analyzed. RESULTS: The AMH levels of patients with successful follicular growth were significantly lower (p=0.001) than those with unsuccessful follicular growth (6.10±3.52 vs. 10.43±4.78 ng/mL). A higher volume of fiber intake was also observed in the successful follicular growth group compared to unsuccessful follicular growth group (p=0.001). Our study found the probability of successful follicle growth was a function of AMH level and the amount of fiber intake, expressed as Y=-2.35+(-0.312×AMH level)+(0.464×fiber intake) (area under the curve, 0.88; 95% confidence interval, 0.79-0.98; p<0.001). CONCLUSION: The optimal threshold of AMH level in predicting the failure of follicle growth in patients with PCOS treated with CC was 8.58 ng/mL.

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