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1.
Gynecol Obstet Fertil Senol ; 52(5): 305-335, 2024 May.
Artículo en Francés | MEDLINE | ID: mdl-38311310

RESUMEN

OBJECTIVE: To update the 2010 CNGOF clinical practice guidelines for the first-line management of infertile couples. MATERIALS AND METHODS: Five major themes (first-line assessment of the infertile woman, first-line assessment of the infertile man, prevention of exposure to environmental factors, initial management using ovulation induction regimens, first-line reproductive surgery) were identified, enabling 28 questions to be formulated using the Patients, Intervention, Comparison, Outcome (PICO) format. Each question was addressed by a working group that had carried out a systematic review of the literature since 2010, and followed the Grading of Recommendations Assessment, Development and Evaluation (GRADE®) methodology to assess the quality of the scientific data on which the recommendations were based. These recommendations were then validated during a national review by 40 national experts. RESULTS: The fertility work-up is recommended to be prescribed according to the woman's age: after one year of infertility before the age of 35 and after 6months after the age of 35. A couple's initial infertility work-up includes a single 3D ultrasound scan with antral follicle count, assessment of tubal permeability by hysterography or HyFOSy, anti-Mullerian hormone assay prior to assisted reproduction, and vaginal swabbing for vaginosis. If the 3D ultrasound is normal, hysterosonography and diagnostic hysteroscopy are not recommended as first-line procedures. Chlamydia trachomatis serology does not have the necessary performance to predict tubal patency. Post-coital testing is no longer recommended. In men, spermogram, spermocytogram and spermoculture are recommended as first-line tests. If the spermogram is normal, it is not recommended to check the spermogram. If the spermogram is abnormal, an examination by an andrologist, an ultrasound scan of the testicles and hormonal test are recommended. Based on the data in the literature, we are unable to recommend a BMI threshold for women that would contraindicate medical management of infertility. A well-balanced Mediterranean-style diet, physical activity and the cessation of smoking and cannabis are recommended for infertile couples. For fertility concern, it is recommended to limit alcohol consumption to less than 5 glasses a week. If the infertility work-up reveals no abnormalities, ovulation induction is not recommended for normo-ovulatory women. If intrauterine insemination is indicated based on an abnormal infertility work-up, gonadotropin stimulation and ovulation monitoring are recommended to avoid multiple pregnancies. If the infertility work-up reveals no abnormality, laparoscopy is probably recommended before the age of 30 to increase natural pregnancy rates. In the case of hydrosalpinx, surgical management is recommended prior to ART, with either salpingotomy or salpingectomy depending on the tubal score. It is recommended to operate on polyps>10mm, myomas 0, 1, 2 and synechiae prior to ART. The data in the literature do not allow us to systematically recommend asymptomatic uterine septa and isthmoceles as first-line surgery. CONCLUSION: Based on strong agreement between experts, we have been able to formulate updated recommendations in 28 areas concerning the initial management of infertile couples.


Asunto(s)
Infertilidad Femenina , Infertilidad Masculina , Humanos , Femenino , Infertilidad Femenina/terapia , Masculino , Francia , Infertilidad Masculina/terapia , Infertilidad Masculina/etiología , Ginecología/métodos , Obstetricia/métodos , Inducción de la Ovulación/métodos , Técnicas Reproductivas Asistidas , Adulto , Sociedades Médicas , Embarazo , Obstetras , Ginecólogos
2.
Eur J Obstet Gynecol Reprod Biol ; 293: 142-145, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38160534

RESUMEN

OBJECTIVE: Unrecognized ureteral and bladder injury increase morbidity and mortality in gynecologic surgery. The primary objective of this study is to analyze the efficiency of a systematic intra-venous (IV) injection of carmine indigo to detect bladder injury in gynecologic vaginal surgery for benign disease. The secondary objective is to analyze the cost and use of carmine indigo. STUDY DESIGN: A retrospective, monocentric study was conducted in a tertiary hospital between January 2018 and October 2021. All patients undergoing a vaginal surgery of hysterectomy for benign disease or anterior prolapse were systematically included. Patients can be systematically included by the automatic coding of surgery. After anesthesia, during the patient's installation, an intravenous injection of 5 mL of intravenous indigo carmine (Carmyne®) diluted in 100 mL of physiological serum was systematically administered by the anesthesia team. Intraoperative cystoscopy was performed only in cases of suspected associated ureteral injury. RESULTS: We recorded 443 vaginal hysterectomies for benign disease and 95 vaginal anterior prolapse surgeries. There were 6 (1,4%) bladder injuries during vaginal hysterectomies and 1 (1,1%) bladder injury during vaginal prolapse surgery. All bladder injuries were diagnosed intraoperatively. No ureteral injury was diagnosed in this series of patients. No complication related to IV indigo carmine injection was found. In this tertiary hospital, 1085 ampoules of carmine indigo were ordered during the same period, approximatively 270 per year. The total cost to the gynecology and obstetrics department was 19,600 euros, or about 4,900 euros per year. Half of the carmine indigo was used in vaginal surgery and half in laparotomy, caesarean section and endometriosis surgery for suspected bladder or ureteral injury.


Asunto(s)
Enfermedades Urológicas , Prolapso Uterino , Humanos , Embarazo , Femenino , Carmin de Índigo/efectos adversos , Carmín , Colorantes/efectos adversos , Estudios Retrospectivos , Cesárea , Enfermedades Urológicas/diagnóstico , Prolapso Uterino/cirugía
3.
J Cardiothorac Surg ; 18(1): 101, 2023 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-37024952

RESUMEN

BACKGROUND: There is still ongoing debate about the benefits of mini-thoracotomy (MTH) approach in mitral valve surgery in comparison with complete sternotomy (STER). This study aims to update the current evidence with mortality as primary end point. METHODS: The MEDLINE and EMBASE databases were searched through June 2022. Two randomized studies and 16 propensity score matched studies published from 2011 to 2022 were included with a total of 12,997 patients operated on from 2005 (MTH: 6467, STER: 6530). Data regarding early mortality, stroke, reoperation for bleeding, new renal failure, new onset of atrial fibrillation, need of blood transfusion, prolonged ventilation, wound infection, time-related outcomes (cross clamp time, cardiopulmonary bypass time, ventilation time, length of intensive care unit stay, length of hospital stay), midterm mortality and reoperation, and costs were extracted and submitted to a meta-analysis using weighted random effects modeling. RESULTS: The incidence of early mortality, stroke, reoperation for bleeding and prolonged ventilation were similar, all in the absence of heterogeneity. However, the sub-group analysis showed a significant OR in favor of MTH when robotic enhancement was used. New renal failure (OR 1.67, 95% CI 1.06-2.62, p = 0.03), new onset of atrial fibrillation (OR 1.31, 95% CI 1.15-1.51, p = 0.001) and the need of blood transfusion (OR 1.77, 95% CI 1.39-2.27, p = 0.001) were significantly lower in MTH group. Regarding time-related outcomes, there was evidence for important heterogeneity of treatment effect among the studies. Operative times were longer in MTH: differences in means were 20.7 min for cross clamp time (95% CI 14.9-26.4, p = 0.001), 36.8 min for CPB time (95% CI 29.8-43.9, p = 0.001) and 37.7 min for total operative time (95% CI 19.6-55.8, p < 0.001). There was no significant difference in ventilation duration; however, the differences in means showed significantly shorter ICU stay and hospital stay after MTH compared to STER: - 0.6 days (95% CI - 1.1/- 0.21, p = 0.001) and - 1.88 days (95% CI - 2.72/- 1.05, p = 0.001) respectively, leading to a significant lower hospital cost after MTH compared to STER with difference in means - 4528 US$ (95% CI - 8725/- 326, p = 0.03). The mid-term mortality was significantly higher after STER compared to MTH: OR = 1.50, 1.09-2.308 (95% CI), p = 0.01; the rate of mid-term reoperation was reported similar in MTH and STER: OR = 0.76, 0.50-1.15 (95% CI), p = 0.19. CONCLUSIONS: The present meta-analysis confirms that the MTH approach for mitral valve disease remains associated with prolonged operative times, but it is beneficial in terms of reduced postoperative complications (renal failure, atrial fibrillation, blood transfusion, wound infection), length of stay in ICU and in hospitalization, with finally a reduction in global cost. MTH approach appears associated with a significant reduction of postoperative mortality that must be confirmed by large randomized study.


Asunto(s)
Fibrilación Atrial , Infección de Heridas , Humanos , Esternotomía/efectos adversos , Toracotomía/efectos adversos , Válvula Mitral/cirugía , Fibrilación Atrial/cirugía , Fibrilación Atrial/etiología , Tiempo de Internación , Infección de Heridas/complicaciones , Infección de Heridas/cirugía , Resultado del Tratamiento , Procedimientos Quirúrgicos Mínimamente Invasivos/efectos adversos , Estudios Retrospectivos
4.
J Minim Invasive Gynecol ; 30(6): 494-501, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36813132

RESUMEN

STUDY OBJECTIVE: To study the severity of intrauterine adhesions (IUA) after uterine arterial embolization and to evaluate fertility, pregnancy, and obstetrical outcomes after hysteroscopic treatment. DESIGN: Retrospective cohort. SETTING: French University Hospital. PATIENTS: Thirty-three patients under the age of 40 years who were treated by uterine artery embolization with nonabsorbable microparticles between 2010 and 2020 for symptomatic fibroids or adenomyosis, or postpartum hemorrhage. INTERVENTIONS: All patients had a diagnosis of IUA after embolization. All patients desired future fertility. IUA was treated with operative hysteroscopy. MEASUREMENTS AND MAIN RESULTS: Severity of IUA, number of operative hysteroscopies performed to obtain a normal cavity shape, pregnancy rate, and obstetrical outcomes. Of our 33 patients, 81.8% had severe IUA (state IV et V according to the European Society of Gynecological Endoscopy or state III according to the American fertility society classification). To restore fertility potential, an average of 3.4 operative hysteroscopies had to be performed [CI 95% (2.56-4.16)]. We reported a very low rate of pregnancy (8/33, 24%). Obstetrical outcomes reported are 50% of premature birth and 62.5% of delivery hemorrhage partly due to 37.5% of placenta accreta. We also reported 2 neonatal deaths. CONCLUSION: IUA after uterine embolization is severe, and more difficult to treat than other synechiae, probably related to endometrial necrosis. Pregnancy and obstetrical outcomes have shown a low pregnancy rate, an increased risk of preterm delivery, a high risk of placental disorders, and very severe postpartum hemorrhage. Those results have to alert gynecologists and radiologists to the use of uterine arterial embolization in women who desire future fertility.


Asunto(s)
Ginatresia , Hemorragia Posparto , Nacimiento Prematuro , Embolización de la Arteria Uterina , Enfermedades Uterinas , Recién Nacido , Femenino , Humanos , Embarazo , Adulto , Estudios de Cohortes , Embolización de la Arteria Uterina/efectos adversos , Estudios Retrospectivos , Hemorragia Posparto/etiología , Hemorragia Posparto/terapia , Ginatresia/etiología , Ginatresia/cirugía , Placenta , Enfermedades Uterinas/cirugía , Enfermedades Uterinas/complicaciones , Histeroscopía/efectos adversos , Fertilidad
5.
J Gynecol Obstet Hum Reprod ; 52(1): 102499, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36328334

RESUMEN

BACKGROUND: Ovarian drilling is a surgical technique for patients with dysovulatory polycystic ovarian syndrome. It is proposed as a second-line treatment in case of failure of medical treatment with Clomiphene citrate, Metformin or Letrozole. The 2020 Cochrane study comparing gonadotrophin stimulation and drilling has found the same pregnancy rate in both cases. The literature review concludes that 50% of spontaneous ovulation occurs in the first three months after drilling and 80% of pregnancy occurs in the following year. Ovarian drilling has also an impact on androgen excess and metabolic syndrome. AIMS: To update on the different surgical techniques to perform an ovarian drilling: surgical approach, energy used, operative risks. TECHNIQUES: The objective of an ovarian drilling is to destroy 5% of the ovarian stroma. It is recommended to perform 8 to 10 perforations in each ovary with bipolar energy. Laser C02 and monopolar energy can be used but increase the risk of adhesion. The surgical approach is actually laparoscopic. Abdominal laparoscopy or transvaginal laparoscopy by vNOTES can be performed. The advantage of the second one is to provide an easier access to the pelvic cavity in case of obesity and patient have no abdominal scare. Both laparoscopic approaches allow an evaluation of tubal patency and adhesiolysis or fimbrioplasty. That it's not the case of an alternative technique: the fertiloscopy, due to coaxial instrumentation in spite of less rate of post-operative adhesions. Operative risks are abdominal adhesions, damage to neighboring organs and due to the general anesthesia. CONCLUSION: Different surgical techniques exist to perform an ovarian drilling. The surgeon can choose the one that he masters best and that will involve the least risk for the patient. It is recommended to use bipolar energy.


Asunto(s)
Infertilidad Femenina , Laparoscopía , Síndrome del Ovario Poliquístico , Femenino , Humanos , Embarazo , Clomifeno/uso terapéutico , Infertilidad Femenina/etiología , Infertilidad Femenina/cirugía , Ovulación , Síndrome del Ovario Poliquístico/complicaciones , Síndrome del Ovario Poliquístico/cirugía , Laparoscopía/métodos
6.
J Minim Invasive Gynecol ; 29(8): 932-933, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35697286

RESUMEN

STUDY OBJECTIVE: To show a new mini-invasive surgical technique of ovarian drilling and fertility workup using transvaginal natural orifice transluminal endoscopic surgery (vNOTES). DESIGN: Stepwise demonstration of the technique with narrated video footage. SETTING: Ovarian drilling is a surgical technique for patients with dysovulatory polycystic ovary syndrome. The aim of this technique is to destroy 5% to 10% of the ovarian cortex to restore spontaneous ovulation. Drilling is proposed as a second-line treatment in case of failure of treatments with clomid, metformin, or letrozole. The Cochrane 2020 review shows that drilling has the same pregnancy rate as the other second-line treatment: stimulation with gonadotropins [1]. After ovarian drilling, the results show 80% of spontaneous ovulation within 3 months and 50% of spontaneous pregnancy within a year; these results are effective in the long term [2]. The techniques used until now were either classic laparoscopy or transvaginal hydrolaparoscopy, which is currently not feasible owing to the cessation of the kit [3,4]. We present to you a new surgical technique: ovarian drilling by vNOTES. This new technique is minimally invasive, without scarring on the abdomen, and very well tolerated. It allows simultaneous ovarian drilling and fertility workup with assessment of tubal patency and uterine cavity by hysteroscopy. It is recommended to use bipolar energy to reduce ovarian lesions and limit the risk of adhesion [5]. INTERVENTIONS: Transvaginal laparoscopic ovarian drilling is a minimally invasive surgical technique using a vNOTES kit from Applied Medical (Rancho Santa Margarita, CA), a hysteroscope of 5 mm with an operating channel from Delmont Imaging (La Ciotat, France), and a bipolar spring electrode, Versapoint from Olympus (Hamburg, Germany). The key steps to perform this surgery are as follows: 1. Perform a diagnostic hysteroscopy with vaginoscopy 2. Perform a posterior colpotomy 3. Introduce the Alexis retractor into the Douglas and place the GelPOINT with 2 sleeves 4. Introduce the hysteroscope into the pelvic cavity with serum saline, using a pressure of approximately 150 mm Hg 5. Drill approximately 10 holes on each ovary using the bipolar electrode 6. Explore the pelvic cavity with the possibility of performing a blue test for tubal patency 7. Suture the posterior vagina CONCLUSION: Ovarian drilling is a surgical treatment proposed after the failure of first-line treatments in polycystic ovary syndrome to obtain long-term spontaneous ovulations. The development of minimally invasive techniques such as vNOTES will highlight this treatment and allow it to be performed easily and with minimal adverse effects on patients, especially in bariatric women for whom the vNOTES technique provides easier access to their pelvic cavity than abdominal laparoscopy.


Asunto(s)
Laparoscopía , Cirugía Endoscópica por Orificios Naturales , Quistes Ováricos , Neoplasias Ováricas , Síndrome del Ovario Poliquístico , Colpotomía , Femenino , Humanos , Laparoscopía/métodos , Cirugía Endoscópica por Orificios Naturales/métodos , Quistes Ováricos/cirugía , Neoplasias Ováricas/cirugía , Síndrome del Ovario Poliquístico/cirugía , Embarazo
7.
Semin Thorac Cardiovasc Surg ; 34(1): 92-98, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-33600960

RESUMEN

It is unclear whether the additional conduit to supplement bilateral internal thoracic arteries (BITA) influences the patient outcome in coronary surgery. This retrospective study compared long-term survival of patients undergoing left-sided BITA grafting in which the third conduit to the right coronary system (RCA) was either vein graft (SVG) or gastroepiploic artery (GEA). From 1989 to 2014, 1432 consecutive patients underwent left-sided revascularization with BITA associated with SVG (n = 599) or GEA (n = 833) to RCA. Propensity score was calculated by logistic regression model and patients were matched 1 to 1 leading to 2 groups of 320 matched patients. The primary end point was the overall mortality from any cause. GEA was used in significantly lower risk patients. The 30-day mortality was 1.6% without influence of the graft configuration. Postoperative follow-up was 13.6 ± 6.6 years and was 94% complete. The significant difference in patients' survival observed at 20 years in favor of GEA in unmatched groups (48 ± 4% vs 33 ± 6%, P < 0.001) was not confirmed in matched groups (41 ± 7% vs 36 ± 7%, P = 0.112). In multivariable Cox model analysis, the conduit used to RCA did not influence the long-term survival in matched groups, like no other graft configuration or operative parameter. Only complete revascularization remained predictor of survival (P = 0.016), with age (P < 0.0001), diabetes status (P = 0.007), and left ventricle ejection fraction (P < 0.0001). Long-term survival in patients undergoing BITA grafting is not affected by using GEA as third arterial conduit in alternative to SVG. Further studies are necessary to assess its impact on long-term cardiac events.


Asunto(s)
Enfermedad de la Arteria Coronaria , Arteria Gastroepiploica , Arterias Mamarias , Puente de Arteria Coronaria/efectos adversos , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/cirugía , Arteria Gastroepiploica/cirugía , Arteria Gastroepiploica/trasplante , Humanos , Arterias Mamarias/cirugía , Arterias Mamarias/trasplante , Estudios Retrospectivos , Resultado del Tratamiento
8.
J Cardiothorac Surg ; 16(1): 6, 2021 Jan 07.
Artículo en Inglés | MEDLINE | ID: mdl-33413537

RESUMEN

BACKGROUND: The benefit of arterial revascularization in coronary surgery remains controversial. The incremental value of additional grafts to the left internal thoracic artery (ITA) has been mainly assessed according to the number of arterial grafts, possibly limiting the detection of its actual impact. We analyzed the influence of the number of distal arterial anastomoses (DAA) performed on late mortality in patients having received from one to three arterial grafts. METHODS: Retrospective review of 3685 primary isolated coronary artery bypass grafting (CABG) performed from 1989 to 2014 was conducted with a 13-year mean follow-up. One arterial graft (SITA) was used in 969 patients, two arterial grafts, ITA or gastroepiploic artery (GEA), in 1883 patients (BITA: 1644; SITA+GEA: 239), and three arterial grafts in 833 patients (BITA+GEA). Totally, 795 patients (22%) received one DAA, 1142 patients (31%) two, 1337 patients (36%) three, and 411 patients (11%) four or more. A sub-group analysis was done in the 2104 patients with 3-vessel disease who received at least 2 arterial grafts. RESULTS: In this series the early mortality was 1.6% and it was not influenced by the surgical technique. Late mortality was significantly influenced by age, gender, heart failure, LV ejection fraction, diabetes status, complete revascularization, number of arterial grafts, number of DAA, both ITA, sequential ITA graft, GEA graft. In multivariable analysis with Cox regression model, the number of DAA was the only technical significant independent prognosis factor of late survival (p < 0.0001), predominant over both ITA, complete revascularization and number of arterial grafts. The impact of the number of DAA on survival was found discriminant from 1 to 3; after 3 there was no more additional effect. In 3-vessel disease patients who received at least 2 arterial grafts, the number of DAA remained a significant independent prognosis factor of late survival (p < 0.0001). CONCLUSIONS: The number of distal arterial anastomoses is an independent predictor of long-term survival, predominant over the number of arterial grafts and the completeness of the revascularization; higher the number, better the late survival. It is a strong support of the extensive use of arterial grafting in CABG.


Asunto(s)
Puente de Arteria Coronaria/mortalidad , Vasos Coronarios/cirugía , Anciano , Anastomosis Quirúrgica , Femenino , Estudios de Seguimiento , Arteria Gastroepiploica/trasplante , Humanos , Masculino , Arterias Mamarias/trasplante , Persona de Mediana Edad , Complicaciones Posoperatorias/mortalidad , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del Tratamiento
9.
J Gynecol Obstet Hum Reprod ; 49(8): 101781, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32492524

RESUMEN

INTRODUCTION: Inserts Essure® were used as a definitive sterilization method from 2001 to 2017. They have been used for more than 750,000 procedures. Gynecological or extra gynaecological adverse events have been reported by patients. The objective of the study is to evaluate the resolution of symptoms attributed to Essure® micro-inserts after surgical removal. METHODS: Monocentric retrospective study. Patients who had surgical removal of Essure® micro-inserts between January 2017 and April 2019 were included. The removal was performed by bilateral salpingectomy with cornuectomy by laparoscopy or vaginal hysterectomy. Symptoms were reported preoperatively, 4-8 weeks after withdrawal (early assessment) and 6-24 months after withdrawal (later assessment). RESULTS: Ninety patients had a surgical removal of Essure® micro-inserts. Fifty-two vaginal hysterectomies and thirty-five laparoscopic salpingectomies were performed. The main symptoms reported are pelvic pain (70 %), fatigue (66.7 %) and heavy bleeding menstruations (53.3 %). One month after surgery, 46.7 % of patients have a major improvement of symptoms and 51.1 % a partial resolution. The major improvement rate is not significantly different between laparoscopic salpingectomy and vaginal hysterectomy (51.5 % versus 42.3 %) (p = 0.23). At 24 months, results improved with 83.3 % major improvement. CONCLUSION: Surgical removal may be effective for treating most women with attributed device symptoms. Vaginal hysterectomy and laparoscopic salpingectomy with cornuectomy seem to have an equivalent rate for the resolution of extra-gynecological symptoms.


Asunto(s)
Histerectomía Vaginal , Laparoscopía/métodos , Salpingectomía/métodos , Esterilización Tubaria/efectos adversos , Esterilización Tubaria/instrumentación , Útero/cirugía , Adulto , Femenino , Humanos , Persona de Mediana Edad , Dolor Pélvico/etiología , Dolor Pélvico/terapia , Estudios Retrospectivos , Resultado del Tratamiento
11.
Future Sci OA ; 4(10): FSO343, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30450230

RESUMEN

AIM: To report fertility status perception, fertility preservation and desire to have children in French cancer survivors 2 and 5 years after diagnosis. METHODS: A total of 427 women and 115 men self-reported treatment-induced infertility, fertility status, access to gamete conservation, desire to have children and pregnancy/live births. RESULTS: A total of 96.5% of men and 92.9% of women were thought to be fertile at diagnosis and 38% desired to have children. A total of 57.8% of men and 67.4% of women declared that no fertility preservation had been discussed before treatment. After 2 years, 26.8% of patients still desired to have children. After 5 years, 18 live births have been reported. CONCLUSION: Despite a legal obligation and technical progress, there is a lack of information given to patients.

12.
Hum Reprod ; 31(11): 2609-2612, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27698074

RESUMEN

Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected individuals. To date, only two pregnancies have been described in 46,XX CLAH patients with StAR mutations; these patients exhibited ovarian steroidogenesis along with spontaneous puberty and menarche and normal menses. The patient described here presented with CLAH caused by the homozygous (unreported, 1 bp) deletion c.719del in the StAR gene, which was diagnosed after acute adrenal insufficiency when the patient was 10 days old. The patient did not undergo spontaneous puberty, so puberty was induced by HRT when the patient was 13 years old. At the age of 25 years, the patient was referred to our reproductive unit because she desired to conceive. An initial cycle of clomiphene, stimulation produced follicular growth with two mature follicles measuring 18 and 15 mm, respectively, but the plasma oestradiol levels remained low (18 pg/ml) and the endometrium was thin (3 mm). Pregnancy was finally achieved after ovarian stimulation, IVF and transfer of frozen-thawed embryos after endometrial preparation with HRT. A normal female child was delivered following a 40 weeks' uneventful pregnancy. We therefore report the first IVF pregnancy achieved in a 46,XX CLAH patient homozygous for a StAR mutation, with inadequate ovarian steroidogenesis and no spontaneous puberty.


Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Trastorno del Desarrollo Sexual 46,XY/genética , Fertilización In Vitro , Infertilidad Femenina/genética , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Adulto , Trastorno del Desarrollo Sexual 46,XY/tratamiento farmacológico , Femenino , Glucocorticoides/uso terapéutico , Terapia de Reemplazo de Hormonas , Humanos , Infertilidad Femenina/terapia , Mutación , Fosfoproteínas/genética , Embarazo , Resultado del Embarazo
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