Precocious puberty is characterised by premature appearance of secondary sexual characteristics before the age of 7 years in girls and 9 years in boys. Dandy-Walker malformation comprises a spectrum of intracranial malformations of the posterior fossa. We present a case of a 7-year-old male child who has presented with features of central precocious puberty and on further evaluation has been found to have Dandy-Walker variant and secondary hypothyroidism. The following case report describes this association which is extremely rare and has never been described in literature.
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http://dx.doi.org/10.1136/bcr-2018-226281 | DOI Listing |
BMC Genomics
December 2024
College of Animal Science and Technology, Gansu Agricultural University, Lanzhou, 730030, China.
Background: The Hezuo (HZ) pig, a famous indigenous breed in China, is characterized by precocious puberty compared with foreign-introduced pig breeds. Sexual maturation is a complex physiological process, and in recent years, circular RNAs (circRNAs), a new class of noncoding RNAs with endogenous regulatory functions, have been shown to play important roles in regulating sexual maturation. However, the dynamic expression and regulatory mechanism of circRNAs during sexual maturation in HZ pigs remain unclear.
View Article and Find Full Text PDFBMC Pediatr
December 2024
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty.
View Article and Find Full Text PDFZhongguo Dang Dai Er Ke Za Zhi
December 2024
Department of Endocrine Genetics and Metabolism, National Children's Regional Medical Center/Xi'an Children's Hospital, Xi'an 710003, China.
Objectives: To establish an efficient and clinically applicable predictive model and scoring system for central precocious puberty (CPP) in girls, and to develop a diagnostic prediction application.
Methods: A total of 342 girls aged 4 to 9 years with precocious puberty were included, comprising 216 cases of CPP and 126 cases of isolated premature thelarche. Lasso regression was used to screen for predictive factors, and logistic regression was employed to establish the predictive model.
Front Endocrinol (Lausanne)
December 2024
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Central precocious puberty (CPP) is an endocrine disease in children, characterized by rapid genital development and secondary sexual characteristics before the age of eight in girls and nine in boys. The premature activation of the hypothalamic-pituitary-gonadal axis (HPGA) limits the height of patients in adulthood and is associated with a higher risk of breast cancer. How to prevent and improve the prognosis of CPP is an important problem.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
December 2024
Pediatric Endocrinology Clinic, Bilkent City Hospital, Ankara, Türkiye.
Objectives: Hypothalamic hamartoma (HH) is a rare condition that causes epilepsy and central precocious puberty (CPP) at an early age. In this report, we describe a child with CPP secondary to HH and discuss the current literature.
Case Presentation: A 26-month-old girl was brought to our hospital for evaluation of breast enlargement.
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