Case Report: The first familial hCG syndrome in a Chinese family.

Ling-Yin Hung,Wai-Hon Li,Yui-Shing Cheung,Hoi-Ning Cheung,Chi-Chung Shek,Mei-Tik Leung,Sammy Pak-Lam Chen,Toby Chun-Hei Chan,Assumpta Sze-Man Wong

doi:10.12688/f1000research.53636.1

Ling-Yin Hung, Wai-Hon Li + Show 7 more

Open Access

https://doi.org/10.12688/f1000research.53636.1

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Journal: F1000Research	Publication Date: Jun 8, 2021
Citations: 2	License type: CC BY 4.0

Affiliation: Queen Elizabeth Hospital

Abstract

Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (hCG). We present here a case of familial hCG syndrome diagnosed in a Hong Kong Chinese family, which we believe to be the first reported in Chinese. A 38-year-old woman presented with incidental finding of persistently elevated hCG, analytically confirmed both in urine and blood. Extensive radiological and biochemical work-up were performed but were negative for pregnancy and malignancy. Testing of another asymptomatic family member revealed unexplained elevation of serum hCG, confirming the diagnosis of familial hCG syndrome. Knowledge and awareness of this entity among clinicians are important to avoid unnecessary investigations and treatment in affected families.

Highlights

Familial human chorionic gonadotropin (hCG) syndrome is a rare but benign cause of elevated serum/urine hCG
We present here a case of familial hCG syndrome diagnosed in Hong Kong, which we believe to be the first reported family in Chinese
It comprises of a common alpha subunit shared between luteinizing hormone (LH), follicle stimulating hormone (FSH) and thyroid-stimulating hormone (TSH), and a unique beta subunit that has been shown to be encoded by at least seven genes4,5

Summary

Introduction

Familial hCG syndrome is a rare but benign cause of elevated serum/urine hCG. Patients present with an otherwise unexplained elevation in serum/urine hCG, and diagnosis is established by exclusion of other causes of elevated hCG and testing of family members. Case presentation A 38-year-old Chinese woman, a veterinary surgeon, was referred for investigation of persistent unexplained elevation in serum beta human chorionic gonadotropin (hCG) levels first revealed in a positive urine pregnancy test for the investigation of abdominal pain in August 2020. Apart from a history of menorrhagia and iron deficiency anaemia, the patient had unremarkable past health. She was not on any drugs or supplement and had never been sexually active.

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Cole LA

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