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1.
Ann Endocrinol (Paris) ; 70(6): 485-8, 2009 Dec.
Article in French | MEDLINE | ID: mdl-19880092

ABSTRACT

INTRODUCTION: Dyshormonogenetic goiter is a genetically determined thyroid hyperplasia due to an enzyme defect in thyroid-hormone synthesis. Malignant transformation is one of the most serious complications, rarely reported in the literature. OBSERVATION: We report a new case of a 13-year-old boy with goitrous hypothyroidism who consulted for a voluminous goiter. Total thyroidectomy was performed. Histopathological examination revealed multiple foci of papillary carcinoma with a lymph node metastasis. CONCLUSION: Dyshormonogenetic goiter is a rare entity, representing one of the causes of congenital hypothyroidism. It is morphologically characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy and cause difficulties in differential diagnosis.


Subject(s)
Carcinoma, Papillary/pathology , Congenital Hypothyroidism/pathology , Goiter/genetics , Goiter/pathology , Thyroid Neoplasms/pathology , Adolescent , Carcinoma, Papillary/surgery , Cell Transformation, Neoplastic/pathology , Congenital Hypothyroidism/drug therapy , Congenital Hypothyroidism/genetics , Diagnosis, Differential , Goiter/surgery , Humans , Hyperplasia , Lymphatic Metastasis , Male , Mutation , Thyroid Gland/pathology , Thyroid Hormones/biosynthesis , Thyroid Hormones/genetics , Thyroid Neoplasms/surgery , Thyroidectomy
2.
Rev Med Interne ; 26(12): 980-3, 2005 Dec.
Article in French | MEDLINE | ID: mdl-16236398

ABSTRACT

INTRODUCTION: Complete androgen insensitivity syndrome or testicular feminization syndrome (TF) is the most common form of male pseudohermaphrodism, caused by a failure of androgen receptor binding. Patient with male genotype 46 XY, has a female morphotype with well developed external sexual organs. EXEGESIS: - We report the case of a 29 year-old girl with a TF syndrome discovered during the exploration of a primary amenorrhoea. Bilateral orchidectomy was performed. The testis were immature; they showed bilateral leiomyoma of the tunica albuginea and multiple hamartomas on the right side. CONCLUSION: Benign tumors are developped in 80% of cases of TF and they are generally hamartomatous nodules of testis. Association of paratesticular leiomyoma to synchronous hamartoma has never been described, its histogenesis is discussed.


Subject(s)
Androgen-Insensitivity Syndrome , Hamartoma/pathology , Leiomyoma/pathology , Testicular Neoplasms/pathology , Adult , Amenorrhea/etiology , Female , Functional Laterality , Humans , Male
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