Abstract:Introduction
Certain medical disorders as well as their management may affect gonadal function. Recent advances in the management of these conditions accompanied by the availability and success of methods of fertility preservation has highlighted the need for assessment of ovarian reserve in childhood and adolescence. Serum anti‐Mullerian hormone (AMH) and antral follicle count are well established markers of ovarian reserve and serum inhibin has also been used. However, literature on reference ranges for ovar… Show more
“…Levels of gonadotropins were within the normal levels, with LH/FSH ratio of 3:1, no clinical or biochemical indicators of hyperandrogenism were found. AMH was below average according to her age and pubertal stage ( 15 ). Previously described individuals with MORMS ( 13 ) had normal growth parameters.…”
A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the INPP5E gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive cone-rod type retinal dystrophy diagnosed at the age of four months that progressed in the 1st decade of life. Severe obesity, insulin resistance with hyperinsulinism, and impaired glucose tolerance developed alongside other components of the metabolic syndrome - dyslipidemia, arterial hypertension, and obstructive hypopnea in sleep. At the age of 14 years, primary amenorrhea persists. The patient is managed by regular nutritional advice, metformin, antihypertensive medication, and non-invasive respiratory support during sleep. Differential diagnosis of this rare entity is discussed in extend.
“…Levels of gonadotropins were within the normal levels, with LH/FSH ratio of 3:1, no clinical or biochemical indicators of hyperandrogenism were found. AMH was below average according to her age and pubertal stage ( 15 ). Previously described individuals with MORMS ( 13 ) had normal growth parameters.…”
A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the INPP5E gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive cone-rod type retinal dystrophy diagnosed at the age of four months that progressed in the 1st decade of life. Severe obesity, insulin resistance with hyperinsulinism, and impaired glucose tolerance developed alongside other components of the metabolic syndrome - dyslipidemia, arterial hypertension, and obstructive hypopnea in sleep. At the age of 14 years, primary amenorrhea persists. The patient is managed by regular nutritional advice, metformin, antihypertensive medication, and non-invasive respiratory support during sleep. Differential diagnosis of this rare entity is discussed in extend.
“…If the patient has been discharged from surgical follow‐up before they reach this age, the general practitioner (family doctor, GP) needs to be informed at the point of hospital discharge from surgical follow‐up to ensure a timely referral is made. In prepubertal female children, a formal fertility assessment with blood tests and internal US (antral follicle count) is not considered helpful 37,38 …”
Section: Methodsmentioning
confidence: 99%
“…In prepubertal female children, a formal fertility assessment with blood tests and internal US (antral follicle count) is not considered helpful. 37,38…”
Section: The Initial Postoperative Follow-up For Children and Young A...mentioning
Aim
No widely agreed consensus protocols exist for the management of benign ovarian tumors (BOT) in children. This presents a substantial risk for suboptimal management. We aimed to generate multispecialty consensus guidance to standardize surgical management and provide a clear follow‐up protocol for children with BOTs.
Methods
Prospective two‐round confidential e‐Delphi consensus survey distributed among multispecialty expert panel; concluded by two semistructured videoconferences.
Main results
Consensus was generated on these core outcome sets: preoperative/intraoperative management; follow‐up; adolescent gynecology referral. (1) Children with BOTs should receive the same management as other patients with potentially neoplastic lesions: Preoperative discussion at a pediatric oncology multidisciplinary meeting to risk stratify tumors, and management by health professionals with expertise in ovarian‐sparing surgery and laparoscopy. (2) Ovarian‐sparing surgery for BOTs should be performed wherever possible to maximize fertility preservation. (3) Ovarian masses detected during emergency laparoscopy/laparotomy should be left in situ wherever feasible and investigated appropriately (imaging/tumor markers) before resection. (4) Follow‐up should be undertaken for all patients after BOT resection. Patients should be offered referral to adolescent gynecology to discuss fertility implications.
Conclusion
This best practice Delphi consensus statement emphasizes the importance of managing children with BOTs through a well‐defined oncological MDT strategy, in order to optimize risk stratification and allow fertility preservation by ovarian‐sparing surgery wherever possible.
“…К 14 годам овуляторные циклы регистрируются лишь у 1/3 девочек. Зрелый тип функционирования формируется постепенно, от менархе до 18 лет с постепенным увеличением овуляторных циклов [17,18]. Органическая патология (PALM) выявляется у 10% девочек-подростков [9,19] Основные нарушения менструального цикла и потенциальные причины, связанные с пандемией COVID-19, подразделяют на гипоталамо-гипофизарные, яичниковые и эндометриальные.…”
The analysis of scientific papers published in eLibrary, PubMed, Google Scholar for 2020–2023 is carried out. The clinical recommendations ‘Abnormal uterine bleeding in puberty’, methodological recommendations of the Ministry of Health of the Russian Federation ‘Features of clinical manifestations and treatment of the disease caused by a new coronavirus infection (COVID-19) in children’ and temporary methodological recommendations of the Ministry of Health of the Russian Federation ‘Prevention, diagnosis and treatment of a new coronavirus infection (COVID-19)’ were analyzed. There is a clear link between the increase in the number of hospitalized girls of early reproductive age with abnormal uterine bleeding of the puberty period (AUB PP) and the transferred COVID-19. In order to improve, predict and optimize the tactics of management and treatment of girls with AUB PP and coronavirus infection, the impact of COVID-19, the features of their etiology and pathogenesis were analyzed. Given the high degree of chronic course and the tendency to relapse, it is necessary to develop a methodology to assess the likelihood of a repeat case of AUB PP, including based on the pathogenetic features of the impact of COVID-19 on the menstrual cycle
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