ABSTRACT
ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.
RESUMO Objetivo: Apresentar o caso de um adolescente pré-púbere com ginecomastia bilateral e transtorno do espectro autista, diagnosticado com distrofia miotônica tipo 1. Descrição do caso: Adolescente do sexo masculino de 12 anos, com transtorno do espectro autista, observado em consulta de seguimento por crescimento mamário bilateral. O paciente tinha antecedentes familiares de ginecomastia, catarata em idade jovem, atraso pubertário e distrofia miotônica tipo 1. À observação física, apresentava ginecomastia bilateral estádio 1 de Tanner. O exame neurológico era normal, sem miotonia aparente. O estudo analítico mostrou níveis elevados de estradiol e da relação estradiol/testosterona. Após exclusão de causas endócrinas, o estudo molecular do gene DMPK confirmou o diagnóstico de distrofia miotônica tipo 1. Comentários: Perante um quadro de ginecomastia pré-púbere, deve-se excluir doenças subjacentes. Este caso reforça a importância de considerar o diagnóstico de distrofia miotônica tipo 1 na presença de manifestações endócrinas e do neurodesenvolvimento.
Subject(s)
Humans , Male , Child , Gynecomastia/etiology , Myotonic Dystrophy/complications , Pedigree , Testosterone/blood , Puberty , Estradiol/chemistry , Myotonin-Protein Kinase/genetics , Autism Spectrum Disorder , Genitalia, Male/anatomy & histology , Gynecomastia/blood , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Myotonic Dystrophy/bloodABSTRACT
Background : Gynecomastia can be physiological or pathological. A limited study of gynecomastia is recommended during puberty and in the elderly, ages in which gynecomastia is usually considered physiological. Other authors suggest that this condition should be studied when it is painful, rapidly growing, of recent onset, when its diameter is more than 4 cm and when is associated to testicular masses. Aim: To investigate the causes of gynecomastia and to evaluate the above mentioned criteria to exclude pathological conditions. Material and methods: Prospective study of 117 patients aged 10 to 83 years, consulting for gynecomastia. All were subjected to a standardized study including a clinical examination and measurement of plasma estradiol and testosterone levels. Results: Forty one percent of gynecomastias were considered pathological and the rest, physiological. Among pathological conditions, 18 patients had an endocrine etiology (hypogonadism in ten patients, estrogen secreting tumors in three, hyperestrogenism of unknown etiology in four and peripheral resistance to androgens in one), in 17 it was secondary to medications and in 13 it was secondary to other causes (idiopathic, pesticide exposure, alcoholism, diabetes or re feeding). In 79 percent of 86 patients of less than 20 years, the condition was physiological and in four of five elderly subjects, it was pathological. Thirty nine percent of pathological gynecomastias lacked the signs and symptoms that according to authors, should prompt a thorough study. Conclusions: All patients with gynecomastia should be studied with a complete medical history and the measurement of estradiol and testosterone levels. The criteria proposed to conduct minimal studies in gynecomastia, would miss a large volume of pathological conditions.