Dataset Information

A case report of spontaneous ovarian hyperstimulation syndrome and the long-term management of the endocrine disorder.

ABSTRACT:

Background

Spontaneous ovarian hyperstimulation syndrome (sOHSS) is a rarely reported clinical symptom of uncertain origin with the incidence of 0.2-1.2%. There is no report of the patients' follow-up situation after the remission of the clinical symptom and this is the first one. The aim of this study was to remind the medical staff of the necessity of long-term management.

Case description

We report a case of severe sOHSS with a normal 15 week gestation twin pregnancy in a 21-year-old primigravida who presented in our emergency room result from the 1 week's nausea and vomiting and progressively aggravated abdominal distension and pains for 3 days. The patient in our case had no significant precipitating factors and she had no previous outstanding medical history except that she had experienced acute glomerulonephritis when she was 9 years old. On ultrasound imaging, we found abnormally enlarged ovaries and massive ascites and moderate pleural fluid. A diagnosis of spontaneous ovarian hyperstimulation was made. The patient participated in followed-up visits for 1 year and experienced polycystic ovary syndrome (PCOS) and weight loss which up to 15kg after delivery.

Conclusions

Typically, although sOHSS is potentially life-threatening, its clinical detection is often delayed. A proactive strategy should be encouraged in the management of high-risk patients. The therapeutic schedule of mild-to-moderate sOHSS can focus on symptomatic relief and supportive treatment. Our case report elucidates the possible long-term effects of sOHSS and reminds us of the need for long-term management of those affected.

SUBMITTER: Liang X

PROVIDER: S-EPMC9011235 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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Publications

A case report of spontaneous ovarian hyperstimulation syndrome and the long-term management of the endocrine disorder.

Liang Xuefei X Yu Xinting X Guo Xiaoli X Wang Fang F

Annals of translational medicine 20220301 6

<h4>Background</h4>Spontaneous ovarian hyperstimulation syndrome (sOHSS) is a rarely reported clinical symptom of uncertain origin with the incidence of 0.2-1.2%. There is no report of the patients' follow-up situation after the remission of the clinical symptom and this is the first one. The aim of this study was to remind the medical staff of the necessity of long-term management.<h4>Case description</h4>We report a case of severe sOHSS with a normal 15 week gestation twin pregnancy in a 21-ye ...[more]

PMID: 35433987

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Project description:Spontaneous ovarian hyperstimulation syndrome (sOHSS) is a rare event that may result from a FSH-producing pituitary adenoma (FSHoma), activating mutations of the FSH receptor (FSHR), and cross-reactivity of the FSHR to elevated hCG and TSH in the setting of pregnancy or hypothyroidism. The objective of this study was to investigate whether an aberrant FSHR was present in a woman with sOHSS and a non-surgically diagnosed FSHoma whose serum FSH levels and FSH bioactivity were nearly normal. Sequencing of the patient's FSHR gene revealed a heterozygous novel missense mutation c. 1536G>A resulting in an amino acid substitution M512I. We asked whether this mutant FSHR affected FSHR-mediated signaling pathways involving cAMP/protein kinase A (PKA), phosphatidylinositol-3 kinase (PI3K)/protein kinase B (AKT) and v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog kinase (SRC)/ p42/p44 extracellular signal-regulated protein kinases (ERK1/2). Thus, 293T cells expressing wild-type (FSHRwt), the mutant FSHR (FSHRmt), or both (FSHRwt/mt) were treated with FSH and subjected to measurements of intracellular cAMP, cAMP-induced CRE (cAMP response element)-mediated luciferase assays and immunoblot analyses of phosphorylated PI3K and ERK1/2. There were no differences in luciferase activities or phosphorylation levels of ERK1/2 among FSHRwt, FSHRmt cells and FSHwt/mt cells. However, FSHRmt cells showed a significant reduction in both cAMP production and PI3K phosphorylation levels with unchanged phosphorylation of ERK1/2 upon FSH stimulation in comparison to FSHwt cells. Also, FSH treatment did not provoke PI3K phosphorylation in FSHwt/mt cells. These results indicate that the novel missense M512I FSHR mutation identified herein did not participate in hyperactivation of FSHR-mediated signaling pathways but rather in hypoactivation of the FSH-mediated PI3K/AKT pathway. Thus, this study demonstrates a new functional property of this novel mutatnt FSHR, which, however, might not be involved in the pathogenesis of sOHSS in this FSHoma patient.

Project description:BackgroundOne of the most significant issues surrounding next generation sequencing is the cost and the difficulty assembling short read lengths. Targeted capture enrichment of longer fragments using single molecule sequencing (SMS) is expected to improve both sequence assembly and base-call accuracy but, at present, there are very few examples of successful application of these technologic advances in translational research and clinical testing. We developed a targeted single molecule sequencing (T-SMS) panel for genes implicated in ovarian response to controlled ovarian hyperstimulation (COH) for infertility.ResultsTarget enrichment was carried out using droplet-base multiplex polymerase chain reaction (PCR) technology (RainDance®) designed to yield amplicons averaging 1 kb fragment size from candidate 44 loci (99.8% unique base-pair coverage). The total targeted sequence was 3.18 Mb per sample. SMS was carried out using single molecule, real-time DNA sequencing (SMRT® Pacific Biosciences®), average raw read length = 1178 nucleotides, 5% of the amplicons >6000 nucleotides). After filtering with circular consensus (CCS) reads, the mean read length was 3200 nucleotides (97% CCS accuracy). Primary data analyses, alignment and filtering utilized the Pacific Biosciences® SMRT portal. Secondary analysis was conducted using the Genome Analysis Toolkit for SNP discovery l and wANNOVAR for functional analysis of variants. Filtered functional variants 18 of 19 (94.7%) were further confirmed using conventional Sanger sequencing. CCS reads were able to accurately detect zygosity. Coverage within GC rich regions (i.e.VEGFR; 72% GC rich) was achieved by capturing long genomic DNA (gDNA) fragments and reading into regions that flank the capture regions. As proof of concept, a non-synonymous LHCGR variant captured in two severe OHSS cases, and verified by conventional sequencing.ConclusionsCombining emulsion PCR-generated 1 kb amplicons and SMRT DNA sequencing permitted greater depth of coverage for T-SMS and facilitated easier sequence assembly. To the best of our knowledge, this is the first report combining emulsion PCR and T-SMS for long reads using human DNA samples, and NGS panel designed for biomarker discovery in OHSS.

Dataset Information

A case report of spontaneous ovarian hyperstimulation syndrome and the long-term management of the endocrine disorder.

Background

Case description

Conclusions

Publications

A case report of spontaneous ovarian hyperstimulation syndrome and the long-term management of the endocrine disorder.

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