Case Reports in Perinatal Medicine最新文献

筛选
英文 中文
Complicated diverticulitis with colovesical fistula and bladder abscess formation in pregnancy: a case report. 妊娠并发憩室炎伴膀胱瘘及膀胱脓肿1例。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-09-04 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2023-0030
Shirley Huang, Jiahua Chen, Natalie Rivera, Kavitha T Ram, Howard L Minkoff
{"title":"Complicated diverticulitis with colovesical fistula and bladder abscess formation in pregnancy: a case report.","authors":"Shirley Huang, Jiahua Chen, Natalie Rivera, Kavitha T Ram, Howard L Minkoff","doi":"10.1515/crpm-2023-0030","DOIUrl":"https://doi.org/10.1515/crpm-2023-0030","url":null,"abstract":"<p><strong>Objectives: </strong>Diverticulitis, characterized by inflammation or infection of diverticula, is rarely observed during pregnancy due to its association with elderly patients. Limited literature exists regarding its diagnosis and management in pregnant patients, especially in the setting of complications.</p><p><strong>Case presentation: </strong>This paper presents a case of a 37-year-old multiparous woman diagnosed with complicated diverticulitis, including colovesical fistula and bladder abscess formation.</p><p><strong>Conclusions: </strong>This paper highlights the importance of considering diverticulitis in pregnant patients with abdominal pain, the need for timely diagnosis, and the significance of multidisciplinary care.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20230030"},"PeriodicalIF":0.1,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Congenital tuberculosis (TB) use of second-line medication and therapeutic drug monitoring. 先天性肺结核(TB)使用二线药物及治疗药物监测。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2022-0019
Haram A Abdelmajid, Ghassan M A Mustafa, Antonia Fernandez, Susannah D Franco, Americo E Esquibies, Gloria B Valencia, Stephan A Kohlhoff
{"title":"Congenital tuberculosis (TB) use of second-line medication and therapeutic drug monitoring.","authors":"Haram A Abdelmajid, Ghassan M A Mustafa, Antonia Fernandez, Susannah D Franco, Americo E Esquibies, Gloria B Valencia, Stephan A Kohlhoff","doi":"10.1515/crpm-2022-0019","DOIUrl":"https://doi.org/10.1515/crpm-2022-0019","url":null,"abstract":"<p><strong>Objectives: </strong>Congenital tuberculosis (TB) is a rare complication of TB during pregnancy. Diagnosis and treatment are challenging, especially in premature infants due to limited data on drug dosing.</p><p><strong>Case presentation: </strong>A male infant was born at 33 weeks gestational age to a mother who was hospitalized with respiratory illness and diagnosed with TB after delivery. The diagnosis was based on the presence of granulomas and mycobacteria in the placenta, positive mycobacterium TB PCR in gastric aspirate, and growth of MTB from gastric aspirate and bronchoalveolar lavage cultures. Treatment started initially with isoniazid, rifampin, pyrazinamide, and ethambutol. The patient's clinical course was complicated with ongoing respiratory distress and abdominal distension which raise the possibilities of drug resistance, but sensitivity was confirmed by PCR, or malabsorption of the medications due to concerns of abdominal TB. Isoniazid and rifampin doses needed to be adjusted due to low serum drug levels. Ethambutol was replaced by Levofloxacin, due to concerns about drug toxicity and unreliable therapeutic levels, but still there was no clinical improvement which raised the possibility of paradoxical reaction to the treatment, so we started the patient on prednisone for one month and tapered over two weeks. From age two months the patient showed progressive improvement and has by now completed 12 months of therapy with good clinical outcome.</p><p><strong>Conclusions: </strong>Therapeutic drug monitoring is important for adjusting medication dosage in premature infants due to limited experience in this age group.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20220019"},"PeriodicalIF":0.1,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Massive fetal goiter treated by intra-amniotic injection of levothyroxine: a case report. 羊膜内注射左甲状腺素治疗大量胎儿甲状腺肿1例。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-05-27 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0006
Nami Tamura, Yuka Yamamoto, Jun Takeda, Junpei Ishigami, Hiroki Suganuma, Toshiaki Shimizu, Atsuo Itakura
{"title":"Massive fetal goiter treated by intra-amniotic injection of levothyroxine: a case report.","authors":"Nami Tamura, Yuka Yamamoto, Jun Takeda, Junpei Ishigami, Hiroki Suganuma, Toshiaki Shimizu, Atsuo Itakura","doi":"10.1515/crpm-2024-0006","DOIUrl":"https://doi.org/10.1515/crpm-2024-0006","url":null,"abstract":"<p><strong>Objectives: </strong>Fetal dyshormonogenetic goiter is a rare condition associated with perinatal complications and sequelae in infants. Although prenatal management remains controversial, further evidence is required for optimal management.</p><p><strong>Case presentation: </strong>A 30-year-old pregnant woman with no history of thyroid disease was referred to our hospital with polyhydramnios. Fetal ultrasonography revealed fetal goiter. Cordocentesis revealed increased thyroid-stimulating hormone (TSH) and low levels of free thyroxine 4 (fT4), which was the basis of diagnosis of fetal hypothyroidism. Intra-amniotic injections of levothyroxine were administered, resulting in a reduction in the goiter size, amount of amniotic fluid, and level of maternal TSH. The mother was euthyroid during pregnancy. The infant was delivered vaginally at full term with a normal thyroid size and no respiratory disorders except hypothyroidism. At 2 years of age, her neurodevelopment is normal.</p><p><strong>Conclusions: </strong>Intra-amniotic injections of levothyroxine for fetal hypothyroidism with massive goiter and polyhydramnios may improve perinatal outcomes.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240006"},"PeriodicalIF":0.1,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aplasia cutis congenita as a complication of early interstitial laser embryo reduction in a case of monochorionic triamniotic triplet pregnancy ‒ a case report. 单绒毛膜三羊膜三胞胎妊娠早期间质激光胚胎复位所致先天性皮肤发育不全1例报告。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-05-07 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2020-0078
Anita Kaul, Chanchal Singh, Ila Gupta
{"title":"<i>Aplasia cutis congenita</i> as a complication of early interstitial laser embryo reduction in a case of monochorionic triamniotic triplet pregnancy ‒ a case report.","authors":"Anita Kaul, Chanchal Singh, Ila Gupta","doi":"10.1515/crpm-2020-0078","DOIUrl":"https://doi.org/10.1515/crpm-2020-0078","url":null,"abstract":"<p><strong>Objectives: </strong>Monochorionic multiple pregnancies are being increasingly encountered. Early embryo reduction by interstitial laser is an option of therapeutic intervention. The patient counseling is mainly focused on miscarriage and fetal demise but this case report highlights that the counseling also needs to mention the possibility of developing <i>Aplasia cutis congenita</i> post intervention and that interstitial laser though technically feasible can have rare complications.</p><p><strong>Case presentation: </strong>This was a uncommon form of twinning diagnosed as monochorionic triamniotic triplet pregnancy where the parents wanted to continue with a single fetus. Interstitial laser was performed in two of the embryos, which became papyraceous. The newborn on delivery was seen to have extensive skin scarring on the trunk which was diagnosed as <i>Aplasia cutis congenita</i>.</p><p><strong>Conclusions: </strong>Awareness on complications on early interstitial laser procedures beyond miscarriage and fetal demise and the psychological impact on the parents of seeing the scarred neonate for the first time, if they have not been made aware of this complication.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20200078"},"PeriodicalIF":0.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fetal bladder rupture after high-dose maternal opioid treatment: a case report. 大剂量阿片类药物治疗后胎儿膀胱破裂1例报告。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-04-29 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2023-0034
Julia Herken, Vincent Uerlings, Sabine Zundel, Jonathan Aichner, Markus Hodel
{"title":"Fetal bladder rupture after high-dose maternal opioid treatment: a case report.","authors":"Julia Herken, Vincent Uerlings, Sabine Zundel, Jonathan Aichner, Markus Hodel","doi":"10.1515/crpm-2023-0034","DOIUrl":"https://doi.org/10.1515/crpm-2023-0034","url":null,"abstract":"<p><strong>Objectives: </strong>Fetal bladder rupture is rare and mainly caused by lower urinary tract obstruction (LUTO). Our case report describes a rupture at a gestational age of 31 weeks following high-dose maternal opioid exposure during intensive care treatment. Opioids perturb the interplay of afferent and efferent signals between the bladder, urethra, and the central nervous system (CNS) which is crucial in contributing to urinary retention. They rapidly cross the human placenta, affecting also the fetus. To date, there is no clear proof of the connection between maternal opioid treatment and fetal bladder rupture, but the association seems to strengthen.</p><p><strong>Case presentation: </strong>A 18-year old first Gravida at 31 weeks of gestation developed a severe sepsis with progressive hypoxic lung failure and need for intubation. During the ICU-treatment, several opioids were administered for sedation and pain relief. Four days after induction of opioid treatment the ultrasound revealed a decompressed fetal bladder, hematoma and significant ascites. Fetal bladder rupture with urinary ascites was suspected. A caesarean section was performed at 33 weeks of gestation due to massive fetal urinary ascites, fetal deterioration and imminent abdominal compartment syndrome. Adequate ventilation and circulation could only be established after percutaneous drainage of 350 mL of abdominal fluid, that was confirmed to be urine. A defect of the bladder was confirmed by ultrasound. On the fifth day of life, the bladder was closed surgically by pediatric surgery.</p><p><strong>Conclusions: </strong>Growing awareness of the possible connection between maternal opioid therapy and fetal bladder rupture is necessary to plan follow-up ultrasound examinations to assess the fetal situation.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20230034"},"PeriodicalIF":0.1,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Persistent pulmonary hypertension of the newborn infant (PPHN) due to premature closure of the ductus arteriosus (DA). 由于动脉导管(DA)过早闭合导致的新生儿持续性肺动脉高压(PPHN)。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-04-29 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0001
Ayevbekpen Grace Okoye, Adrita Khawash, Mahesh Nanjundappa, Matthew Jones, Anne Greenough
{"title":"Persistent pulmonary hypertension of the newborn infant (PPHN) due to premature closure of the ductus arteriosus (DA).","authors":"Ayevbekpen Grace Okoye, Adrita Khawash, Mahesh Nanjundappa, Matthew Jones, Anne Greenough","doi":"10.1515/crpm-2024-0001","DOIUrl":"https://doi.org/10.1515/crpm-2024-0001","url":null,"abstract":"<p><strong>Objectives: </strong>To describe the course of an infant with persistent pulmonary hypertension of the newborn (PPHN) secondary to premature closure of the ductus arteriosus (DA), a very rare phenomenon which can lead to adverse clinical outcomes.</p><p><strong>Case presentation: </strong>A term infant was diagnosed with severe PPHN with echocardiographic features noted at 6 h after birth which included supra-systemic pulmonary pressures, severe isolated right ventricle (RV) hypertrophy, poor RV dysfunction and no ductal flow in the context of a structurally normal heart. There was maternal use of low-dose aspirin in pregnancy due to preeclampsia. There is a known association between use of prostaglandin synthase inhibitors such as aspirin with ductal closure leading to increased RV pressure. Treatment was commenced with positive pressure ventilation, inhaled nitric oxide (iNO) and milrinone. There was a limited response to iNO necessitating increasing the concentration of milrinone with a marked improvement in oxygenation. Following commencement of sildenafil, inhaled nitric oxide was gradually weaned and stopped in the third week and the infant extubated. The infant was discharged home on oral sildenafil at four weeks of age with no respiratory or feeding support. Echocardiographic features of raised right sided pressures persisted, but with reduced RV hypertrophy and septal flattening and improved RV function. Oral sildenafil was subsequently weaned and stopped at four months of age.</p><p><strong>Conclusions: </strong>A severe form of PPHN due to premature closure of the DA requires early discussion with the cardiologist. The use of milrinone and sildenafil can lead to a favourable outcome.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240001"},"PeriodicalIF":0.1,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case report of congenital myotonic dystrophy with multiple prenatal sonographic findings. 先天性肌强直性营养不良伴多种产前超声检查的1例报告。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-04-29 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2023-0029
Zita Strelcovienė, Eglė Machtejevienė, Meilė Minkauskienė, Rasa Traberg
{"title":"Case report of congenital myotonic dystrophy with multiple prenatal sonographic findings.","authors":"Zita Strelcovienė, Eglė Machtejevienė, Meilė Minkauskienė, Rasa Traberg","doi":"10.1515/crpm-2023-0029","DOIUrl":"https://doi.org/10.1515/crpm-2023-0029","url":null,"abstract":"<p><strong>Objectives: </strong>Myotonic dystrophy 1 (DM1) is an autosomal dominant inherited neuromuscular disorder. The most severe form is congenital myotonic dystrophy (cDM). Prenatal diagnosis is complicated and sonographic findings of cDM that are not pathognomonic occur in the late second or early third trimester of pregnancy.</p><p><strong>Case presentation: </strong>It is the case of prenatally diagnosed cDM. In 32 weeks of pregnancy multiple sonographic findings such as severe polyhydramnios, bilateral talipes, fetal legs akinesia, macrocephaly with mild bilateral ventriculomegaly, right-sided pleural effusion and diaphragmatic pathology were observed by fetal medicine specialist. As the patient complained of weakness in her limbs, she was consulted by a neurologist. The neurological examination revealed a pathognomonic sign of DM1 - grip myotonia. The amniotic fluid and the mother's blood sample were further tested for DM1. This identified >150 repeats in one copy of the DMPK gene of the both, which is consistent with the diagnosis DM1.</p><p><strong>Conclusions: </strong>The sonographic findings of fetal limb abnormalities with progressive polyhydramnios is an indication for maternal neurological examination and genetic testing due to myotonic dystrophy.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20230029"},"PeriodicalIF":0.1,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case study: autoimmune hepatitis with cirrhosis and pancytopenia since 7 weeks' gestation. 病例研究:妊娠7周以来自身免疫性肝炎伴肝硬化和全血细胞减少。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-04-26 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0007
Rachel Lee, Zenobia Gonsalves, Sophia Wang, Ayesha Hussain, Kimberly Herrera
{"title":"Case study: autoimmune hepatitis with cirrhosis and pancytopenia since 7 weeks' gestation.","authors":"Rachel Lee, Zenobia Gonsalves, Sophia Wang, Ayesha Hussain, Kimberly Herrera","doi":"10.1515/crpm-2024-0007","DOIUrl":"https://doi.org/10.1515/crpm-2024-0007","url":null,"abstract":"<p><strong>Objectives: </strong>Autoimmune hepatitis (AIH) is a chronic inflammatory disease of unknown etiology and AIH in pregnancy is associated with many adverse maternal and fetal outcomes. The purpose of this report is to share insight into management of AIH-induced pancytopenia unresponsive to steroids and transfusions.</p><p><strong>Case presentation: </strong>A 29-year-old G4P0121 female with history of spontaneous bacterial peritonitis (SBP) and severe pancytopenia secondary to AIH was found to be incidentally pregnant at 7 weeks gestation. Despite multiple blood transfusions and steroids, her pancytopenia was unresponsive to therapy. At 33 weeks, she underwent primary cesarean section for persistent category II fetal heart tracing and delivered a viable infant. Delivery was complicated by hemorrhage requiring multiple blood products. Postpartum course was complicated by sepsis secondary to urinary tract infection, and decompensated cirrhosis with hepatic encephalopathy and coagulopathy. Both fetus and mother have recovered well 3 months post-delivery.</p><p><strong>Conclusions: </strong>This case highlights the challenges in management of AIH in pregnancy, particularly the difficulty in treating severe unresponsive pancytopenia as well as balancing the need for immunosuppression with the increased risk of infection that may lead to sequelae such as SBP and puerperal sepsis.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240007"},"PeriodicalIF":0.1,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143979130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization. 芳香酶缺乏由于新的CYP19A1突变:一个罕见的原因,母亲和胎儿男性化。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-04-26 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2023-0032
Aamir Naseem, Muhammad Zahid, Kashan Arshad, Syed Saddam Hussain, Sommayya Aftab, Anjum Saeed, Huma Arshad Cheema
{"title":"Aromatase deficiency due to novel <i>CYP19A1</i> mutation: a rare cause of maternal and fetal virilization.","authors":"Aamir Naseem, Muhammad Zahid, Kashan Arshad, Syed Saddam Hussain, Sommayya Aftab, Anjum Saeed, Huma Arshad Cheema","doi":"10.1515/crpm-2023-0032","DOIUrl":"https://doi.org/10.1515/crpm-2023-0032","url":null,"abstract":"<p><strong>Objectives: </strong>Aromatase deficiency is a rare autosomal recessive condition due to a mutation in the <i>CYP19A1</i> encoding aromatase enzyme. This enzyme protects the fetus and mother from excess androgens by converting them into estrogen. We are reporting a case of aromatase deficiency presented with atypical genitalia and maternal virilization due to a novel mutation in <i>CYP19A1</i>.</p><p><strong>Case presentation: </strong>A 10-day-old newborn presented with atypical genitalia and a history of maternal virilization during pregnancy. On examination, the baby had a Prader score of 3. Further investigation revealed karyotype 46 XX, with a normal uterus and ovaries on ultrasonography. The hormonal profile of the baby was normal except for the raised follicle stimulating hormone (FSH). Maternal ultrasound revealed polycystic ovaries, and the hormonal profile was within the normal range with slightly raised testosterone. Whole exome sequencing was done, which reported that the baby was carrying a novel homozygous mutation of the <i>CYP19A1</i> gene c.575G>C p. (Arg192Pro), confirming the diagnosis of aromatase deficiency.</p><p><strong>Conclusions: </strong>Aromatase deficiency is a rare condition. A history of maternal virilization during pregnancy in a child born with atypical genitalia should alert physicians to consider aromatase deficiency.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20230032"},"PeriodicalIF":0.1,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acquired factor VIII deficiency in a nulliparous patient undergoing induction of labor. 无产患者引产后获得性因子VIII缺乏。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-03-11 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2023-0004
Nawras Zayat, Shirley Huang, Anthony Filipovic, Lorie Bartley, Wissam Akkary
{"title":"Acquired factor VIII deficiency in a nulliparous patient undergoing induction of labor.","authors":"Nawras Zayat, Shirley Huang, Anthony Filipovic, Lorie Bartley, Wissam Akkary","doi":"10.1515/crpm-2023-0004","DOIUrl":"https://doi.org/10.1515/crpm-2023-0004","url":null,"abstract":"<p><strong>Objectives: </strong>To present a case of acquired factor VIII deficiency in the setting of labor and describe the challenges of its diagnosis and treatment.</p><p><strong>Case presentation: </strong>A 31-year-old woman was diagnosed with acquired factor VIII deficiency while undergoing induction of labor. Her labor and post operative course were complicated by epidural hematoma formation, prolonged postoperative surgical site bleeding, and subcutaneous hematoma. Management included blood products, human Factor VII, rituximab, and a steroid taper.</p><p><strong>Conclusions: </strong>Acquired factor VIII deficiency can be challenging to diagnose and should be considered in the differential diagnosis in patients with prolonged bleeding accompanied by a prolonged activated partial thromboplastin time (aPTT).</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20230004"},"PeriodicalIF":0.1,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信