ABSTRACT
McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, skin pigmentation, acromegaly, hyperprolactinemia and a thyroid nodule. A 23-year-old male presented for an evaluation of a change in his facial structures. Fibrous dysplasia was diagnosed by a bone biopsy and radiographic studies. The GH level increased paradoxically after an oral glucose load. The plasma prolactin, IGF-1 and alkaline phosphatase were high. Thyroid ultrasonography revealed multiple nodules. The brain MRI demonstrated a mass in the left pituitary gland. Genetic analysis identified a change from Arg (CGT) at codon 201 to Cys (TGT).
Subject(s)
Acromegaly/diagnosis , Fibrous Dysplasia, Polyostotic/diagnosis , GTP-Binding Protein alpha Subunits, Gs/genetics , Acromegaly/etiology , Adult , Cafe-au-Lait Spots/etiology , Cafe-au-Lait Spots/genetics , Chromogranins , Fibrous Dysplasia, Polyostotic/genetics , Fibrous Dysplasia, Polyostotic/pathology , Humans , Hyperprolactinemia/etiology , Hyperprolactinemia/genetics , Male , Mutation , Puberty, Precocious/etiology , Puberty, Precocious/genetics , Thyroid Diseases/etiology , Thyroid Diseases/geneticsABSTRACT
Relapse and exacerbation of Graves' disease during pregnancy is rare, and thionamide induced agranulocytosis is an uncommon side effect. We report a case of a pregnant woman in her 24th week of gestation that experienced a relapse of Graves' disease that was complicated by propylthiouracil induced agranulocytosis. Following the discontinuation of propylthiouracil and administration of a broad-spectrum of antibiotics, agranulocytosis subsided within 10 days. A total thyroidectomy to avoid any future relapse was planned and a short course of a beta-adrenergic blocker and Lugol solution were prescribed before the operation. At the 28th week of gestation, a total thyroidectomy was performed without complications and thyroxine replacement therapy was commenced. At the 40th week of gestation, labor was induced and a 3,370 g healthy male infant was born without clinical features of thyrotoxicosis. We report herein on the patient and the treatment options for this rare and complicated case.
Subject(s)
Agranulocytosis/complications , Antithyroid Agents/adverse effects , Graves Disease/complications , Graves Disease/therapy , Pregnancy Complications/therapy , Propylthiouracil/adverse effects , Adult , Agranulocytosis/chemically induced , Antithyroid Agents/administration & dosage , Female , Humans , Pregnancy , Propylthiouracil/administration & dosage , Recurrence , ThyroidectomyABSTRACT
Carney complex is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, that is characterized by lentigines, cardiac myxoma, and numerous endocrine and other tumors, including primary pigmented nodular adrenocortical disease. Here, we describe a typical case of Carney complex in a 27-year-old female who exhibited spotty skin pigmentation on the lips, oral mucosa, fingers, and toes and several manifestations of Cushing's syndrome due to primary pigmented nodular adrenocortical disease. She also had pituitary adenoma, breast tumor and thyroid nodule. Only a few cases of this disorder have been reported in the Korean literature. All of them, however, had only two components of Carney complex: composed of skin pigmentation and primary pigmented nodular adrenocortical disease. Therefore, the present case seems to be the first true case of Carney complex reported in Korea.
