Familial HCG syndrome: A diagnostic challenge

Tan, Alvin; Merwe, Anna-Marie Van der; Low, Xunjun; Chrystal, K.

doi:10.1016/j.gynor.2014.05.005

Cited by 9 publications

(10 citation statements)

References 7 publications

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“…58,59 In familial hCG syndrome, nonpregnant male and female individuals produce a mutated form of hCG with alteration in the C-terminal peptide region of the molecule. 58,59 This production outside of pregnancy or malignancy results in a persistently elevated hCG level. 59 The site of origin of this mutated hCG is unknown.…”

Section: False Positivesmentioning

confidence: 99%

“…59 The site of origin of this mutated hCG is unknown. 58 One case study of 15 cases found that in each case the syndrome was confirmed by either a parent or sibling also exhibiting ectopic hCG production. 60 Individuals with familial hCG syndrome can experience false diagnoses of ectopic pregnancy or malignancy, with subsequent unnecessary workup and treatment.…”

Section: False Positivesmentioning

confidence: 99%

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Human Chorionic Gonadotropin—A Review of the Literature

Herkert

Meljen²,

Muasher

et al. 2022

Obstetrical &Amp; Gynecological Survey

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ImportanceThe measurement of human chorionic gonadotropin (hCG) levels in different body fluids is a commonly utilized tool in obstetrics and gynecology, as well as other fields. It is often one of the first steps in the medical workup of female patients, and the results and interpretation of this test can have significant downstream ramifications. It is essential to understand the uses and limitations of hCG as a testing and therapeutic measure to appropriately evaluate, counsel, and treat patients.ObjectiveThe purpose of this article is to review the current literature on hCG, including its origins, structure, pharmacokinetics, metabolism, and utility in testing and medical treatment.Evidence AcquisitionOriginal research articles, review articles, and guidelines on hCG use were reviewed.Conclusions and RelevanceWhile the primary function of hCG is to maintain early pregnancy, testing for hCG demonstrates that this molecule is implicated in a multitude of different processes where results of testing may lead to incorrect conclusions regarding pregnancy status. This could affect patients in a myriad of settings and have profound emotional and financial consequences. In addition, hCG testing may be revealing of alternative pathology, such as malignancy. It is imperative to understand the nuances of the physiology of hCG and testing methods to effectively use and interpret this test for appropriate patient management.Target AudienceObstetricians and gynecologists, family physiciansLearning ObjectivesAfter participating in this activity, the provider should be better able to describe the origins, molecular structure, and effects of hCG and its isoforms; explain the mechanism, strengths, and limitations of different hCG testing modalities as well as potential causes of false-positive and false-negative tests; and evaluate the recommendations for, as well as the implications and limitations of, hCG testing in clinical research, the perioperative setting, and other common clinical scenarios.

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Section: False Positivesmentioning

confidence: 99%

Section: False Positivesmentioning

confidence: 99%

Human Chorionic Gonadotropin—A Review of the Literature

Herkert

Meljen²,

Muasher

et al. 2022

Obstetrical &Amp; Gynecological Survey

View full text Add to dashboard Cite

show abstract

“…49 Affected patients produce hCG moieties that contain multiple CTP modifications that lead to persistently elevated hCG assay results. 50 The hCG present in journals.sagepub.com/home/reh Therapeutic Advances in Reproductive Health 15 familial hCG syndrome is thought to lack the betasubunit C-terminus or have a mutated CTP region. Such hCG molecules with modified CTPs usually have gone undetected because a majority of hCG assays (11 out of 12) cannot detect hCG molecules that are missing the B subunit CTP region.…”

Section: Phantom Hcg Syndromementioning

confidence: 99%

A rational diagnostic approach to the “phantom hCG” and other clinical scenarios in which a patient is thought to be pregnant but is not

Oyatogun

Sandhu

Barata-Kirby

et al. 2021

Clin Med�Insights�Reprod�Health

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The scenario in which a patient tests positive for human chorionic gonadotropin (hCG) in the absence of pregnancy can pose a diagnostic dilemma for clinicians. The term “phantom hCG” refers to persistently positive hCG levels on diagnostic testing in a nonpregnant patient and such results often lead to a false diagnosis of malignancy and subsequent inappropriate treatment with chemotherapy or hysterectomy. There remains a need for a consistent and rational diagnostic approach to the “phantom hCG.” This article aims to review the different etiologies of positive serum hCG testing in nonpregnant subjects and concludes with a practical, stepwise diagnostic approach to assist clinicians encountering this clinical dilemma.

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“…Extraplacental secretion of hCG in small amounts occurs in the liver and colon 14 and in familial hCG syndrome. 15 Measurements of urine or serum hCG levels are mandatory, before any routine or emergent medical and surgical procedures, even in women of perimenopausal age. The assumption that elevated hCG outside of pregnancy is always pathologic has led to potentially harmful and unwarranted interventions or delaying necessary medical interventions for women.…”

Section: Introductionmentioning

confidence: 99%

Amenorrhea and pituitary human chorionic gonadotrophin production in a 38-year-old presenting as pregnancy of unknown location: case report and review of literature

Ordog

Raff

Rysavy

et al. 2022

Proceedings in Obstetrics and Gynecology

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Background: Amenorrhea and extraplacental production of serum human chorionic gonadotropin (hCG), particularly in young women, can mimic a pregnancy of unknown location. Elevated serum hCG in the absence of pregnancy can pose a diagnostic dilemma and has led to potentially harmful and unwarranted interventions including chemotherapeutic agents like methotrexate or have led to delay in necessary medical interventions in women. We report a case to demonstrate that amenorrhea and extraplacental human chorionic gonadotropin (hCG) production in young women can mimic a pregnancy of unknown location. Furthermore, we performed a critical review of literature on pituitary hCG production. Case: A 38-year-old woman with a diagnosis of Silver-Russell syndrome, a unicornuate uterus, history of right oophorectomy for a benign serous cystadenoma and a desire for pregnancy presenting with a provisional diagnosis of pregnancy of unknown location.After performing a thorough review of history, physical examination, ultrasound exams, and a review of hormone analysis [including hCG, Tumor markers, Follicle-stimulating hormone (FSH), Luteinizing hormone (LH), Anti-Mullerian Hormone (AMH), Estradiol (E2) levels], we confirmed the diagnosis of premature ovarian insufficiency and pituitary hCG production. Conclusions: In women, serum levels of hCG may increase with age, and are not always an indicator of pregnancy. Therefore, it is imperative to interpret false-positive test results and rule out the extraplacental production of hCG. This will help prevent unnecessary surgical procedures and treatment, including chemotherapy.

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Familial HCG syndrome: A diagnostic challenge

Abstract: HighlightsThis is a rare inheritable condition which results in raised total HCG levels.Common causes of raised HCG need to be excluded prior to considering this syndrome.A diagnosis can prevent unnecessary surgical or oncological treatment.

Cited by 9 publications

References 7 publications

Human Chorionic Gonadotropin—A Review of the Literature

Human Chorionic Gonadotropin—A Review of the Literature

A rational diagnostic approach to the “phantom hCG” and other clinical scenarios in which a patient is thought to be pregnant but is not

Amenorrhea and pituitary human chorionic gonadotrophin production in a 38-year-old presenting as pregnancy of unknown location: case report and review of literature

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