RESUMO
Introduction: precocious puberty is defined as the development of sexual characteristics before 8 years of age in girls and 9 years of age in boys. The purpose of our study was to describe the clinical, paraclinical and etiological profile of precocious puberty. Methods: we conducted a retrospective descriptive study from 1999 to 2017 in the Pediatric Endocrinology Unit at the Rabat Children's Hospital. Results: ninety-nine children were included in the study. The average age of girls was 4.25 ± 2.6 years, while that of boys was 3.6 ± 1.8 years. There was a female predominance (90%; 90 girls). The telltale signs in girls were dominated by breast development (77.77%). In boys, the most common reason for consultation was pubic hair (70%). Biologically, in central precocious puberty, the mean peak LH level after GnRH stimulation was high (17 IU/L) with a mean peak LH to peak FSH ratio of 1.30. The causes included: dissociated early puberty (60.60%), pathological early puberty (39.40%). In the latter, we noted a predominance of precocious pseudopuberty (58.98%). Concerning the central precocious puberty, idiopathic central precocious puberty was the most common etiology in girls (62.5%). In all boys, central nervous system lesion was found. Conclusion: our study confirms that central pathological precocious puberty is often related to a lesion of the central nervous system in boys, thus justifying systematic brain imaging.
Assuntos
Puberdade Precoce , Criança , Pré-Escolar , Feminino , Hormônio Foliculoestimulante , Hormônio Liberador de Gonadotropina , Hospitais , Humanos , Lactente , Hormônio Luteinizante , Masculino , Puberdade Precoce/epidemiologia , Puberdade Precoce/etiologia , Estudos RetrospectivosAssuntos
Disgenesia Gonadal 46 XY/diagnóstico , Testículo/anormalidades , Hormônio Antimülleriano/sangue , Criança , Pré-Escolar , Gonadotropina Coriônica/uso terapêutico , Doenças dos Genitais Masculinos/diagnóstico , Disgenesia Gonadal 46 XY/tratamento farmacológico , Disgenesia Gonadal 46 XY/cirurgia , Humanos , Lactente , Laparoscopia , Masculino , Pênis/anormalidades , Fenótipo , Testículo/cirurgia , Testosterona/sangueRESUMO
Dyggve-Melchiore-Clausen (DMC) syndrome is a are autosomal recessive spondyloepimetaphyseal dysplasia associated with mental retardation resulting from mutations in the Dymeclin (DYM) gene mapped in the 18q12-12.1 chromosomal region. We report a case of a consanguineous Moroccan boy with this disease confirmed by the presence of homozygous mutation at c.1878delA of DYM gene. Our patient additionally has a micropenis. We discuss the clinical severity, difficult management of this syndrome and its association with micropenis never described before in the literature.