Background: It is important to differentiate central from peripheral causes of precocious puberty because of distinct management options.
Case Characteristics: 4 girls with discordant pubertal development.
Observations: All had low basal and GnRHa stimulated FSH and LH level with high estradiol level. Abdominal ultrasonogram helped in diagnosing precocious pseudopuberty- ovarian cyst in 3 children and juvenile granulosa cell tumour in one.
Outcome: Case 1 and 4 underwent surgery in view of persistent cyst and tumor, respectively. Rest were managed conservatively. Regression of pubertal signs observed in all children during follow-up.
Conclusion: Precocious pseudopuberty can be differentiated from central precocious puberty by GnRHa Stimulation test, bone age and abdominal ultrasound.
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Front Endocrinol (Lausanne)
December 2024
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
Horm Res Paediatr
November 2024
Department of Pediatrics, Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Introduction: Congenital adrenal hyperplasia (CAH) is characterized by a broad spectrum of symptoms. This study aimed to describe genotype-phenotype correlations, clinical manifestations at diagnosis, and the frequency of feminizing surgery in childhood.
Methods: A nationwide retrospective cohort study of patients diagnosed with CAH, at the age of ≤18 years, between 1943 and 2018.
Exp Clin Endocrinol Diabetes
November 2024
Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic.
Aim: Despite the high sensitivity of neonatal screening in detecting the classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, one of the unclear issues is identifying asymptomatic children with late onset forms. The aim of this nationwide study was to analyse the association between genotype and screened level of 17-hydroxyprogesterone in patients with the late onset form of 21-hydroxylase deficiency and to quantify false negativity.
Methods: In the Czech Republic, 1,866,129 neonates were screened (2006-2022).
Children (Basel)
October 2023
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.
Puberty identifies the transition from childhood to adulthood. Precocious puberty is the onset of signs of pubertal development before age eight in girls and before age nine in boys, it has an incidence of 1/5000-1/10,000 with an F:M ratio ranging from 3:1 to 20:1. Precocious puberty can be divided into central, also known as gonadotropin-dependent precocious puberty or true precocious puberty, and peripheral, also recognized as gonadotropin-independent precocious puberty or precocious pseudopuberty.
View Article and Find Full Text PDFBMC Endocr Disord
October 2023
Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China.
Background: The pineal lesion affecting melatonin is a rare cause of central precocious puberty by decreasing the inhibition of hypothalamic-pituitary-gonadal axis. Germ cell tumor secreting human chorionic gonadotropin is a rare cause of peripheral puberty.
Case Presentation: A 5.
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