Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background: Van Wyk Grumbach syndrome (VWGS) and Kocher-Debre Semelaigne syndrome (KDSS) are rare forms of pseudo-precocious puberty and myopathy in patients with longstanding untreated hypothyroidism. We present the case of an adolescent girl who developed pseudo-precocious puberty and myopathy caused by long-term untreated hypothyroidism.
Case: A 17-year-old female patient was referred to our outpatient clinic due to menstrual irregularities. She had muscle pain and multiple cystic ovaries in addition to clinical signs of severe congenital hypothyroidism. High levels of creatinine and creatinine kinase and accompanying muscle hypertrophy were present. After the initiation of L-thyroxine therapy, the symptoms were alleviated in a short time.
Conclusion: Congenital and acquired hypothyroidism should be considered in the differential diagnosis of pseudo-precocious puberty and myopathy that presents with muscle pain, muscle hypertrophy, and elevated creatinine kinase levels.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jpag.2015.03.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.
Ann Pediatr Endocrinol Metab
May 2025
The Center for Endocrinology, Metabolism, Genetics/Genomic and Molecular Therapy, National Children.
Purpose: Simple virilizing congenital adrenal hyperplasia (SV-CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease caused by pathogenic variants of the CYP21A2 gene. Children with SV-CAH often experience delayed diagnosis, presenting with pseudo-precocious puberty in males and genital virilization in females. Genotyping is essential for diagnosis, treatment, optimization and phenotype prediction.
View Article and Find Full Text PDFSuccessful Use of Metyrapone Suppositories in an Infant with Neonatal Cushing and McCune Albright Syndrome: A Case Report.
Horm Res Paediatr
April 2025
Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Introduction: Perinatal hypercorticism, regardless of its cause, has a high mortality or leads to life-long lasting complications. Some publications reported on the use of metyrapone in children with McCune Albright syndrome (MAS) and hypercorticism but also mentioned its poor tolerability.
Case Presentation: We present the case of a toddler in whom we diagnosed MAS based on pseudo-precocious puberty and hypercorticism at the age of 10 months.
Precocious puberty in a child: A rare cause and review of literature.
J Family Med Prim Care
October 2022
Department of Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Precocious puberty (PP) in pediatric office practice is challenging as the cause varies from benign to malignant conditions. Adrenocortical tumors are rare in childhood and pseudo-precocious puberty is the most common clinical presentation in children. We report a case of a 5-year-old boy who presented with features of abdominal distention and virilization, and his abdominal magnetic resonance imaging (MRI) revealed an adrenal tumor which was confirmed as adrenocortical carcinoma by biopsy.
View Article and Find Full Text PDFPediatric Cushing's disease: Case reports and retrospective review.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
March 2024
Third Department of Medicine, First Faculty of Medicine in Prague, Charles University, Czech Republic.
Background: We report four pediatric subjects with Cushing's disease (CD) diagnosed in the Czech Republic. We focus on initial symptoms of Cushing's syndrome (CS) which can lead to early diagnosis, on typical symptoms of CS in children, their age and sex distribution, the mean length of symptoms prior to diagnosis, indication for examination, post-cure growth, sexual development and pituitary function in our four CD patients after transsphenoidal pituitary surgery (TSS). We describe the diagnostic process leading to confirmation of CD and we emphasize the biochemical and radiological diagnostic difficulties.
View Article and Find Full Text PDF[Precocious puberty: experience in the Pediatric Endocrinology Unit at the Children's Hospital in Rabat].
Pan Afr Med J
September 2022
Unité d´Endocrinologie, Service de Pédiatrie II, Hôpital d´Enfants, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Maroc.
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.