Objective: To report a rare case of central precocious puberty attributable to hypothalamic hamartoma that was diagnosed in utero.
Methods: We present the clinical, laboratory, and imaging data pertaining to our case and discuss the diagnostic features and recommended treatment of central precocious puberty in patients with hypothalamic hamartoma.
Results: A 3-month-old male child had had excessively rapid growth velocity and weight gain since birth. On investigation, the patient was diagnosed as having hypothalamic hamartoma with central precocious puberty. On inquiry, his mother described a history of prenatal ultrasonography and fetal magnetic resonance imaging suggesting the presence of a cystic lesion in his brain at 9 months of gestation. Because of continued rapid growth and acceleration of puberty during a 4-month observation period, we decided to treat the patient with leuprolide acetate. The patient responded well to treatment, with stabilization of growth.
Conclusion: To the best of our knowledge, this patient is the youngest in the medical literature diagnosed to have central precocious puberty and also to receive treatment with leuprolide acetate.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.4158/EP09193.CR | DOI Listing |
BMC 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.
Context: Most of the loss-of-function mutations described in children with central precocious puberty (CPP) is located into the coding regions of MKRN3 or DLK1 genes. Notably, potential abnormalities in the regulatory regions of these CPP-genes are rarely explored.
Objective: To search for pathogenic variants in the regulatory regions of MKRN3 and DLK1 genes in patients with familial or idiopathic CPP.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!