Marc R Laufer

Harvard Medical School | HMS · Department of Obstetrics, Gynecology, and Reproductive Biology

Introduction Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder affecting salivary and lacrimal glands, while endometriosis involves uterine‐like tissue growth outside the uterus, causing pelvic pain and infertility. Investigating their intricate relationship using real‐world data is crucial due to limited research on their connectio...

OHVIRA is a rare congenital developmental syndrome manifested by uterine duplication, lower genital tract obstruction and unilateral renal anomaly. Literature on reproductive outcomes in this patient population is limited. The aim of this study is to describe obstetric outcomes after surgical correction of obstructed hemi-vagina in a longitudinal c...

Endometriosis is a chronic condition, with debilitating symptoms affecting all ages. Dysmenorrhea and pelvic pain often begin in adolescence, affecting school, daily activities, and relationships. Despite the profound burden of endometriosis, many adolescents experience suboptimal management and significant delay in diagnosis. The symptomatology an...

Objective: To explore the use duration of gonadotropin-releasing hormone agonist (GnRHa) plus add-back in adolescents with laparoscopically-confirmed endometriosis and the treatment course prior to and following GnRHa therapy DESIGN: Retrospective cohort study MATERIALS AND METHODS: We identified 51 subjects with laparoscopically-confirmed endomet...

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 di...

We described trends in pelvic pain characteristics over two years of follow-up among adolescents and adults with and without endometriosis participating in the longitudinal observational cohort of the Women's Health Study: From Adolescence to Adulthood (A2A), utilizing data reported at baseline and at years one and two of follow-up. Participants co...

Endometriosis affects reproductive-aged females and varies considerably in terms of symptom presentation, morphologic features, and treatment response. Most studies investigating symptom recurrence after an endometriosis-related surgery have been conducted among adults. The Endometriosis pain QUality aftEr Surgical Treatment (EndoQUEST) Study was e...

While endometriosis has been historically considered a disease affecting reproductive aged women, the disease can frequently occur in adolescents as well. Adolescents with endometriosis may be asymptomatic or have debilitating and distressing symptoms, interfering with school and social activities. Many adult women experience their endometriosis sy...

Objective To identify metabolites in presurgical blood associated with risk of persistent postsurgical pelvic pain 1 year after endometriosis surgery in adolescent and young adult patients. Design Prospective observational study within the Women’s Health Study: From Adolescence to Adulthood, a US-based longitudinal cohort of adolescents and women...

Study Objective To study the feasibility of virtual visits for ambulatory encounters in pediatric and adolescent gynecology Design A retrospective review Setting Boston Children's Hospital Participants Patients who were seen virtually through the Division of Gynecology between January 1, 2020 and June 1, 2020 Main Outcome measure(s) Patient dem...

Malignant ovarian neoplasms are uncommon in the pediatric and adolescent population. Imaging and tumor markers help to guide the preoperative risk/benefit analysis for planned surgical management, which is the mainstay of therapy. An interdisciplinary approach should be taken in the management of this vulnerable population from diagnosis through po...

Background: Vaginal bleeding in the prepubertal child has several etiologies including structural anomalies, endocrinologic dysfunction, infection, trauma, foreign body, and hematologic disorders. Case: An 8-year-old premenarcheal girl presented with vaginal bleeding. On ultrasound, she was found to have an intramural hyperechogenic mass in the...

Introduction GNAS mutations have been reprted in both McCune-Albright Syndrome (MAS) and juvenile granulosa cell tumors (JGCT), but have never been reported simultaneously in the same patient. Case Presentation A 15-year-old girl developed secondary oligomenorrhea. Laboratory studies revealed suppressed gonadotropin levels with markedly elevated e...

Objective To estimate the efficacy and safety of a novel non-hormonal therapeutic agent, cabergoline, compared to a clinical standard therapy, norethindrone acetate (NETA), for the treatment of endometriosis-associated pain in young women with endometriosis. Design Randomized, double-blind, placebo-controlled pilot study Setting Tertiary care cen...

The field of OB/GYN is one that provides intersections between one's most private and intimate moments with scenarios that could potentially trigger significant emotional trauma. As providers, one must balance providing appropriate care with the respect and autonomy of the patient. The perioperative and operative space presents many ethical dilemma...

Pelvic pain is a broad term encompassing pain from viscera within the pelvic cavity, and from the bony and myofascial structures of the pelvis. In children and adolescents, pain due to pelvic pathology may be described as abdominal pain, and is frequently overlooked owing to co-occurrence with gastrointestinal symptoms. Dysmenorrhea is highly preva...

Our understanding of how pain in early life differs to that in maturity is continuing to increase and develop, using a mixture of approaches from basic science, clinical science, and implementation science. The new edition of the Oxford Textbook of Pediatric Pain brings together an international team of experts to provide an authoritative and compr...

Objective Inadequate communication about endometriosis symptom burden between women and healthcare providers is a barrier for optimal treatment. This study describes the development of the EndoWheel, a patient-reported assessment tool that visualizes the multi-dimensional burden of endometriosis to facilitate patient–provider communication. Method...

Background Vaginal bleeding in the prepubertal child has several etiologies including structural anomalies, endocrinologic dysfunction, infection, trauma, foreign body, and hematologic disorders. While bleeding in this age group is often benign, it can be distressing to both the child and parent so a comprehensive evaluation is important. Case An...

Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition typified by underdevelopment of the female reproductive tract. Much of the MRKH literature addresses surgical options and psychosocial aspects, however little is known about the routine gynecologic care of individuals with MRKH. The purpose of this study was to asse...

Background : Long-term survival following hematopoietic stem cell transplant (HSCT) in childhood continues to improve and patients are thus increasingly faced with the late effects of treatment. Infertility is very common for both males and females following HSCT and is one of the most distressing sequelae. Adoption and surrogate egg or sperm donat...

Problem Associations between immune dysfunction conditions (e.g. systemic lupus erythematous, rheumatoid arthritis) and endometriosis have been observed in adult women, but not assessed among a younger population. We investigated the association between immune‐mediated conditions and endometriosis among young women. Method of Study This cross‐sect...

Endometriosis may exert a profound negative influence on the lives of individuals with the disorder, adversely affecting quality of life, participation in daily and social activities, physical and sexual functioning, relationships, educational and work productivity, mental health, and well-being. Over the course of a lifetime, these daily challenge...

Endometriosis is generally histopathologically defined as the presence of at least 2 of the following: endometrial stroma, Müllerian epithelium, and/or hemosiderin-laden macrophages (HLM). Despite clinically evident endometriotic lesions, biopsies are frequently nondiagnostic. In this study, we conducted a large-scale review of biopsies of lesions...

Background: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare diagnosis that classically presents with dysmenorrhea and increasing pelvic pain. Unusual manifestations of OHVIRA syndrome may occur as a result of patient anatomy and the rupture or relief of the obstructed hemivagina. Case: We present a 15-year old pat...

Problem: To compare inflammatory- and immune-associated peritoneal cytokines of adolescents and adults with and without endometriosis METHODS OF STUDY: In a nested case-control study in multiple university-affiliated scientific centers, ten adolescents and thirteen adults with visually- and histologically-confirmed endometriosis (cases), thirteen...

Endometriosis is a painful gynecologic disease affecting one in ten reproductive aged women worldwide. Few studies have correlated this symptomatology with biomarker levels among women with and without endometriosis, and no studies correlating pain with biomarker levels have been performed in young patient populations. The purpose of this study was...

Objective Endometriosis is a common gynecologic disorder often associated with severe pelvic pain and infertility with very few known modifiable risk factors. We investigated whether in utero and early life exposures are associated with surgically diagnosed endometriosis among adolescents and young adults. Study design This case-control study, inc...

Study Objective Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is a female reproductive disorder characterised by absence or underdevelopment of the uterus, cervix and vagina. Limited research has examined factors related to psychological adjustment in MRKH. This study aimed to explore associations between illness representations, self-concept, psy...

Study Objective To study the presentation of dysmenorrhea and endometriosis in transmasculine adolescents and review their treatment outcomes. Design A retrospective review Setting Boston Children’s Hospital Participants Transmasculine persons less than 26 years old who were diagnosed with dysmenorrhea and treated between January 1, 2000 and Mar...

Endometriosis is the leading pathologic cause of dysmenorrhea and chronic pelvic pain among adolescents. The appearance of endometriosis in adolescents may be different from adult females, resulting in delayed recognition and intervention. This article addresses the epidemiology, pathophysiology, clinical presentation, diagnosis, and management of...

Background Adolescent endometriosis typically presents as stage I with superficial peritoneal disease and less commonly as stage III or IV with deeply infiltrative disease. Endometriosis lesions can be destroyed (cautery or laser), cutting out the discrete lesion with excision and destroyed, or radically excised with removal of the lesion and surro...

Cancer treatments may compromise the fertility of children, adolescents, and young adults, and treatment-related infertility represents an important survivorship issue that should be addressed at diagnosis and in follow-up to ensure optimal decision-making, including consideration of pursuing fertility preservation. Risk of infertility varies subst...

Endometriosis can have a profound impact on women's lives, including associated pain, infertility, decreased quality of life, and interference with daily life, relationships, and livelihood. The first step in alleviating these adverse sequelae is to diagnose the underlying condition. For many women, the journey to endometriosis diagnosis is long an...

Endometriosis, a systemic disease that is often painful and chronic, affects ∼10% of reproductive-age women. The disease can have a negative impact on a patient's physical and emotional well-being, quality of life, and productivity. Endometriosis also places significant economic and social burden on patients, their families, and society as a whole....

Purpose: The purpose of this study was to develop a pre-operative risk assessment tool for childhood and adolescent ovarian malignancy, in order to guide operative management of pediatric ovarian masses. Methods: We conducted a retrospective analysis of patients <18 years old who underwent ovarian surgery at two quaternary care pediatric centers...

Purpose: While endometriosis is recognized to have a high patient burden for adults, the level of morbidity it causes for adolescents has been understudied, and may be minimized by clinicians. The purpose of this study was to determine whether endometriosis has a significant impact on quality of life (QOL) for adolescents and young adults. Method...

Endometriosis is a common complex inflammatory condition characterised by the presence of endometrium-like tissue outside the uterus, mainly in the pelvic area. It is associated with chronic pelvic pain and infertility, and its pathogenesis remains poorly understood. The disease is typically classified according to the revised American Fertility So...

Background: Menorrhagia is a common gynecologic complaint among adolescents, which rarely is secondary to malignancy. Burkitt's lymphoma can mimic gynecologic malignancy, however it is rarely seen in adolescents. Burkitt's lymphoma of the gynecologic tract requires early diagnosis and intervention for optimal outcomes. Case: We report a case of...

Study objective: To explore the potential occurrence of long-term side effects and tolerability of gonadotropin-releasing hormone agonist (GnRHa) plus 2 different add-back regimens in adolescent patients with endometriosis DESIGN: Follow-up questionnaire sent in 2016 to patients who participated in a drug trial between 2008-2012 SETTING: Tertiary...

Objective: To determine the prevalence and experience of migraines in adolescents with surgically confirmed endometriosis compared with those without endometriosis. Design: Cross-sectional study conducted within The Women's Health Study: From Adolescence to Adulthood-an ongoing longitudinal cohort. Setting: Boston Center for Endometriosis. Pa...

Background: Granular cell tumors (GCTs) are rare soft tissue lesions that can involve the female genital tract, including the vulva. While malignant tumors are aggressive and uncommon, benign and atypical lesions still have associated risks, including recurrence and multi-site development. Cases: Four cases of pediatric vulvar GCT are presented,...

Background: Endometriosis symptoms often start at a young age, and the time between symptom onset and endometriosis diagnosis can be several years. It is not clear if symptoms experienced by adolescents differ from adults. Better understanding may shorten the often lengthy delay in diagnosis. Objective: To further elucidate the symptom presentat...

Background Modeling early endometrial differentiation is a crucial step towards understanding the divergent pathways between normal and ectopic endometrial development as seen in endometriosis. Methods To investigate these pathways, mouse embryonic stem cells (mESCs) and embryoid bodies (EBs) were differentiated in standard EB medium (EBM). Immuno...

Background: Endometriosis-the ectopic implantation of endometrial-like tissue-affects 10% of female adolescents and adults. Bladder involvement, causing dysuria and hematuria, occurs in a very small minority of endometriosis patients. Case: The patient presented at age 12 years with dysuria and pelvic pain. Laparoscopy revealed Stage I endometri...

Background: Endometriosis-ectopic implantation of endometrial-like tissue-affects 10% of female adolescents and adults. First-line treatment includes progesterone-only (such as norethindrone acetate, NET-A) or combined estrogen/progestin oral contraceptive pills. Estrogen-containing contraceptives confer increased risk of hepatic adenomas, while t...

Background: The appropriate operative approach to pediatric patients with ovarian tumors must balance real risk of malignancy with maximal preservation of reproductive potential. We evaluate preoperative risk of malignancy in order to more precisely guide treatment, so as to err on the side of ovarian preservation if at all possible. Methods: We...

Study objective: Use of gonadotropin-releasing hormone agonist (GnRHa) to treat endometriosis can cause mood and vasomotor side effects. "Add-back therapy," the addition of low dose hormones, limits side effects but research is limited to adults. We sought to characterize quality of life (QOL) before treatment and to compare an add-back regimen of...

Peritoneal fluid sampling has been recommended during surgery to resect an ovarian or fallopian tube mass, particularly for its staging relevance in ovarian carcinoma. Guidelines specifically for children are not well established, partly because of incomplete knowledge of the test characteristics in this age group. We sought to determine whether pe...

Study objective: To describe the rates of use and effectiveness of gonadotropin releasing hormone (GnRH) agonists and other forms of hormonal menstrual suppression in preventing vaginal bleeding among young women undergoing hematopoietic cell transplantation (HCT). Design: Retrospective descriptive study. Setting: University-based pediatric he...

To assess whether add-back therapy with norethindrone acetate or norethindrone acetate plus conjugated equine estrogens is superior to maintain bone health in adolescents and young women using gonadotropin-releasing hormone agonists for endometriosis. Gonadotropin-releasing hormone agonists are associated with deleterious effects on bone. Hormonal...

Purpose: Historically, surgical staging practices for pediatric malignant ovarian tumors mirrored adult guidelines. In 2004, the Children's Oncology Group (COG) developed guidelines specific to pediatric patients with ovarian germ cell tumors. We sought to characterize the operative management of pediatric ovarian lesions and adherence to COG surg...

Objective To harmonize standard operating procedures (SOPs) and standardize the recording of associated data for collection, processing, and storage of fluid biospecimens relevant to endometriosis. Design An international collaboration involving 34 clinical/academic centers and 3 industry collaborators from 16 countries on 5 continents. Setting I...

Objective: To standardize the recording of surgical phenotypic information on endometriosis and related sample collections obtained at laparoscopy, allowing large-scale collaborative research into the condition. Design: An international collaboration involving 34 clinical/academic centers and three industry collaborators from 16 countries. Setting:...

Pain due to pelvic pathology in children and adolescents is often described as abdominal pain, and frequently coexists with gastrointestinal symptoms due to neuronal cross talk and viscero-viscero or viscero-somatic convergence of sensory afferents. Dysmenorrhea is highly prevalent among adolescents yet is underreported. Like many chronic condition...

This review will empower the primary care provider (PCP) to evaluate, manage, and refer as needed adolescents with dysmenorrhea and/or chronic pelvic pain (CPP) who are suspected to have endometriosis. Endometriosis is a common cause of CPP in adolescents who do not respond to primary medical treatment. The presentation in adolescents is unique, ca...

Purpose of review: Endometriosis is increasingly being recognized and diagnosed in adolescents. As a result of this earlier diagnosis, treatment with agents like gonadotropin releasing hormone agonist (GnRHa) begins earlier and may last longer. Long-term effects of GnRHa treatment for endometriosis are of concern when treating adolescents. Recent...

Background: Endometriosis is commonly found in adolescents with an obstructed reproductive tract and has been reported to always regress after correction. This study highlights 5 patients who had persistent pain and a diagnosis of endometriosis following correction of their anomaly. Cases: The cases include patients with agenesis of the lower va...

Background: Absence of the lower vagina occurs from abnormal development of the sinovaginal bulbs and vaginal plate. Case: We present a case of an adolescent girl, with a history of VACTERL and VATER status post flap vaginoplasty at 8 m of age and correction of vaginal-urethral fistula, with primary amenorrhea and cyclic pelvic pain. MRI showed...