Abstract
IntroductionThe combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare. To the best of our knowledge, double endocrine tumors in association with heart-hand syndrome have not previously been reported.Case presentationA 21-year-old Japanese woman presented with galactorrhea and decreased visual acuity. A large pituitary adenoma with an increased level of serum prolactin was apparent by computed tomography. She additionally showed mild hypertension (136/90 mmHg) accompanied by hypokalemia. The plasma aldosterone concentration was increased. Computed tomography showed a mass in the right adrenal gland. No other tumors were found despite extensive imaging studies. Physical and radiographic examinations showed skeletal malformations of the hands and feet, including hypoplasia of the first digit in all four limbs. An atrial septal defect was demonstrated by echocardiography. Similar digital and cardiac abnormalities were detected in our patient's father, and a clinical diagnosis of hereditary heart-hand syndrome was made.ConclusionNo established heart-hand syndrome was wholly compatible with the family's phenotype. Her father had no obvious endocrine tumors, implying that the parent of transmission determined variable phenotypic expression of the disease: heart-hand syndrome with multiple endocrine tumors from the paternal transmission or no endocrine tumor from the maternal transmission. This suggests that the gene or genes responsible for the disease may be under tissue-specific imprinting control.
Highlights
The combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare
Despite no report on identified MEN1 mutations in patients with a prolactinoma and an aldosterone-producing adenoma, the rare combination of tumors might occur in the MEN1 patients
We report the case of a female patient with double endocrine tumors in association with familial heart-hand syndrome
Summary
We report the case of a female patient with double endocrine tumors (prolactinoma and aldosterone-producing adenoma) in association with familial heart-hand syndrome. A combination of prolactinoma and aldosterone-producing adenoma was rare [9]. We found no mutation in the TBX5 and MEN1 genes. These findings suggested that another genetic factor was involved in the complex of double endocrine tumors, atrial septal defect and pre-axial brachydactyly in this family. Upstream regulatory genes for TBX4 (on chromosome 16) and for TBX5 may be involved in the present case. Prolactinoma and aldosterone-producing adenoma, an extremely rare combination of endocrine tumors, were present in the proband but not in the father (Figure 2). Consent Written informed consent was obtained from the patient and her father for publication of this case report and any accompanying images. A copy of the written consent is available for review by the journal’s Editor-in-Chief
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