Prepubertal gynecomastia: a rare manifestation of myotonic dystrophy type 1

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 pr é-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 pacien te...
Source: Revista Paulista de Pediatria - Category: Pediatrics Source Type: research

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Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Authors: Uysal SP, Sahin M Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. The brain, heart, skin, eyes, kidneys, and lungs are commonly involved in this syndrome, with the neurologic symptoms comprising a significant source of mo...
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Publication date: June 2020Source: Research in Autism Spectrum Disorders, Volume 74Author(s): Kyle M. Frost, Kaylin M. Russell, Brooke Ingersoll
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research
I hope you enjoy this new post I wrote for Psychology Today. It’s been quite a time staying home with Nat these three weeks!
Source: Susan's Blog - Category: Child Development Authors: Tags: Uncategorized Source Type: blogs
(Natural News) A rare disease called limb-girdle muscular dystrophy D1 (LMGD1) makes even everyday actions such as climbing stairs, lifting objects and standing up from a chair difficult to do. Over time, it can even cause some people to lose the ability to walk. A recent study, however, shows that lithium can be a possible treatment for LMGD1. Researchers...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news
Estradiol-17β regulates proliferation and apoptosis of sheep endometrial epithelial cells by regulating the relative abundance of YAP1. Anim Reprod Sci. 2020 Apr;215:106328 Authors: An SY, Gao XX, Wang ZB, Liang YX, Wang ST, Xiao SH, Xia JT, You PH, Wang F, Zhang GM Abstract Yes-associated protein 1 (YAP1) transcription regulator of the Hippo protein kinase pathway, serves as a key regulator of tissue growth and organ size by regulating cell proliferation and apoptosis. Effects of YAP1 on proliferation and apoptosis of sheep endometrial epithelial cells (EEC) as a result of estradiol-17β (E2...
Source: Animal Reproduction Science - Category: Zoology Authors: Tags: Anim Reprod Sci Source Type: research
Condition:   Autism Spectrum Disorder Intervention:   Device: Usability assessment of Cognoa ASD Therapeutic Device Sponsor:   Cognoa, Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Persons with NDDs participating in an art competition organized on the occasion of birthday of Father of the Nation Bangabandhu Sheikh Mujibur Rahman, March 2019. Credit: NDD Protection Trust, BangladeshBy Saima W. HossainDHAKA, Bangladesh, Mar 30 2020 (IPS) A few days ago, a friend said to me that my focus on autism, although rather successful, had “sucked out all energy from other critical areas of social need in Bangladesh.” My friend wanted to know if I would be interested in expanding my visibility and successful approach to autism, to other issues that have apparently been left by the wayside due to every...
Source: IPS Inter Press Service - Health - Category: International Medicine & Public Health Authors: Tags: Aid Asia-Pacific Development & Aid Education Featured Global Headlines Health Human Rights TerraViva United Nations Source Type: news
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Source: Anais Brasileiros de Dermatologia - Category: Dermatology Source Type: research
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Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
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