A case of Angelman syndrome (AS) with thelarche variant in a 4.5-year-old girl is presented. Clinical suspicion of AS was raised at the age of 15 months when she presented with mental retardation and epilepsy, absence of speech, ataxic gait with jerky movements, hyperactivity and paroxysmal episodes of laughter. Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible. Dinucleotide repeat polymorphism (DNRP) analysis, identified absence of maternal alleles at D15S543, D15S113 and GABRB3 loci, findings consistent with AS. Studies on CYP19 locus (outside the 15q11-13 region) revealed the presence of two different alleles, thus excluding the possibility of paternal isodisomy of chromosome 15 in this patient. Breast development at the age of 4.5 years, accompanied by accelerated growth velocity and bone age suggested the diagnosis of variant thelarche. This is the second case of AS with sexual precocity reported and whether this combination is a coincidence or not remains to be clarified.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.braindev.2003.10.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216.
JCEM Case Rep
November 2024
Department of Endocrinology, University Hospitals Leuven, 3000 Leuven, Belgium.
Article Synopsis
- - A genetic condition known as Gordon Holmes syndrome combines symptoms like hypogonadotropic hypogonadism, cerebellar ataxia, chorea, and cognitive impairment, linked to biallelic pathogenic variants.
- - A case study involves two siblings, a 17-year-old brother with delayed puberty and gynecomastia, and a 15-year-old sister with primary amenorrhea, leading to clinical investigations that revealed reproductive and neurological issues.
- - Whole-exome sequencing confirmed a homozygous pathogenic variant in both siblings, with parents identified as heterozygous carriers, emphasizing that early signs of hypogonadism can indicate this complex neuroendocrine disorder.
Lipid Profile and Triglyceride-Glucose Index (TyG) Alterations in a Single-Center Cohort of Children Diagnosed with Central Precocious Puberty.
Children (Basel)
May 2024
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
A correlation between plasma lipids and timing of pubertal development has been hypothesized, though lipid influence remains unclear in central precocious puberty (CPP). To assess any possible alterations in the lipid profile and triglyceride glucose index (TyG) in children diagnosed with CPP. Retrospective single-center study conducted on children (aged 6.
View Article and Find Full Text PDFDiabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus.
Endocrinol Diabetes Metab Case Rep
January 2024
Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.
Summary: Kabuki syndrome is a genetic disorder characterised by distinctive facial features, developmental delays, and multisystem congenital anomalies. Endocrine complications such as premature thelarche and short stature are common, whereas disorders of glycaemic control are less frequent. We describe a 23-year-old white female referred to the diabetes clinic for hyperglycaemia during haemodialysis.
View Article and Find Full Text PDFPrevalence and characteristics of thelarche variant.
Front Endocrinol (Lausanne)
December 2023
Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Introduction: Girls with early thelarche may show an intermediate clinical picture between isolated premature thelarche (PT) and central precocious puberty (CPP), defined as "thelarche variant" (TV), characterized by an FSH-predominant response, although a univocal definition is lacking.
Methods: Retrospective analysis on 91 girls with early thelarche (<8 years) and advanced bone age and/or accelerated growth who underwent 104 LHRH tests. Patients were classified into CPP (LH peak ≥5 IU/L; n = 28, 31%), TV (FSH peak ≥20 IU/L, LH peak <5 IU/L; n = 15, 16%), or PT (FSH peak <20 IU/L and LH peak <5 IU/L; n = 48, 53%).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!