BACKGROUND: Acromegaly is a disorder associated with hypersecretion of growth hormone, most usually caused by a pituitary adenoma. Dysmotility of the gastrointestinal tract has been reported in acromegalic patients. Achalasia is a disorder characterized by aperistalsis of the oesophagus with incomplete lower oesophageal sphincter relaxation and whose aetiology remains unknown. Mutations in some genes have previously been associated with the development of acromegaly or achalasia. The study aims were to analyse mutations in selected genes in a woman having both of these diseases, to identify their aetiological factors, and to suggest explanations for the co-incidence of acromegaly and achalasia. METHODS AND RESULTS: A female patient with acromegaly, achalasia, and a multinodular thyroid gland with hyperplastic colloid nodules underwent successful treatment of achalasia via laparoscopic Heller myotomy, a thyroidectomy was performed, and the pituitary macroadenoma was surgically excised via transnasal endoscopic extirpation. Germline DNA from the leukocytes was analysed by sequencing methods for a panel of genes. No pathogenic mutation in AAAS, AIP, MEN1, CDKN1B, PRKAR1A, SDHB, GPR101, and GNAS genes was found in germline DNA. The somatic mutation c.601C>T/p.R201C in the GNAS gene was identified in DNA extracted from a tissue sample of the pituitary macroadenoma. CONCLUSIONS: We here describe the first case report to our knowledge of a patient with both acromegaly and achalasia. Association of acromegaly and soft muscle tissue hypertrophy may contribute to achalasia's development. If one of these diagnoses is determined, the other also should be considered along with increased risk of oesophageal and colorectal malignancy.
- MeSH
- achalázie jícnu * komplikace genetika MeSH
- akromegalie * komplikace genetika MeSH
- DNA MeSH
- incidence MeSH
- lidé MeSH
- nádory hypofýzy * genetika MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Cíl studie: Popis vzácného případu Cushingova syndromu vyvolaného adrenálním adenomem v těhotenství s úspěšnou terapeutickou strategií. Vlastní pozorování: Prezentujeme výjimečný případ Cushingova syndromu u 30leté tercipary s rozvíjejícími se příznaky od 18. týdne gravidity. Pomocí laboratorních testů byl zjištěn primární Cushingův syndrom s nadprodukcí kortizolu a s nízkým adrenokortikotropním hormonem. Nativní magnetickou rezonancí potvrzen tumor pravé nadledviny. Ve 28. gestačním týdnu byla provedena laparotomická pravostranná adrenalektomie a histologicky potvrzen adrenální adenom. S nasazenou glukokortikoidní substitucí gravidita pokračovala do 38. týdne, kdy byl vaginálně porozen zdravý chlapec. Závěr: Cushingův syndrom se v těhotenství vyskytuje zřídka, často není rozpoznán nebo je diagnostikován postpartálně. Diagnostiku v průběhu gravidity komplikuje fyziologická nadprodukce kortizolu s aktivací hypotalamo-hypofyzární osy a snadná záměna symptomů za potíže vyvolané graviditou. Hlavním laboratorním parametrem je několikanásobně zvýšený volný kortizol v moči a vymizení cirkadiánního rytmu sérového kortizolu. Při včasné diagnostice a chirurgické terapii jsme schopni významně snížit míru výskytu mateřských a fetálních komplikací.
Objective: The description of a rare case of Cushing's syndrome caused by an adrenal adenoma in pregnancy with successful treatment. Case presentation: 30-ear-old Gravida 3 female was admitted to our hospital with hypertension at the 18th week of gestation. Hormonal analyses revealed primary Cushing's syndrome with high plasma cortisol levels and low levels of adrenocorticotropic hormone. Magnetic resonance imaging demonstrated a mass on the right-side of the adrenal gland. Adrenalectomy was performed in the 28th week of gestation and the following histopathology revealed an adrenocortical adenoma. Pregnancy continued until the 38th week of gestation with glucocorticoid replacement therapy and the patient gave birth vaginally to a healthy boy in the 38th week of gestation. Conclusion: Cushing's syndrome in pregnancy rarely occurs; diagnosis may be dismissed or determined after birth in most cases. Misdiagnosis of Cushing's syndrome is common because of physiological increase of corticotropin hormones and cortisol levels and overlapping symptoms that can occur even during physiological pregnancy. Cushing's syndrome should have a place in the differential diagnosis of hypertension in pregnancy (especially before the 20th week of gestation). Analysis of the urinary free cortisol level and circadian rhythm blood cortisol can provide a reasonable strategy to diagnose Cushing's syndrome in pregnant women. Early diagnosis and surgical treatment can significantly reduce maternal and fetal complications.
- MeSH
- adenom chirurgie diagnóza MeSH
- Cushingův syndrom * chirurgie etiologie MeSH
- dospělí MeSH
- hypertenze etiologie MeSH
- komplikace těhotenství MeSH
- lidé MeSH
- nádorové komplikace v těhotenství chirurgie diagnóza MeSH
- nádory nadledvin chirurgie diagnóza MeSH
- těhotenství MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
