Twenty-seven girls with premature pubarche were studied by ultrasonographic and color Doppler analyses to determine the incidence of polycystic ovaries (PCO), to longitudinally assess their evolution, and to search for any hormonal correlation. The girls were submitted to auxological, clinical, and hormonal evaluation, and 21-hydroxylase deficiency was ruled out by an ACTH test. Furthermore, the girls underwent ultrasonographic and color Doppler ovarian and uterine analyses. Among girls with premature pubarche, the prevalence of PCO was 41%. Advanced skeletal maturation, tall stature, and increased hair distribution were constant in these patients. In patients with ultrasonographic and color Doppler evidence of PCO, the ovarian volume, the number of small-sized subcapsular follicles, the stromal echogenicity, and the ovarian stromal vascularization progressively increased during the study. In the whole studied population, ovarian volume correlated with the number of small-sized follicles (r = 0.719; P < 0.0001). Furthermore, a slight and inverse correlation has been found between ovarian volume and ovarian stromal artery pulsatility index (r = -536; P = 0.048). In conclusion, we affirm that PCO are greatly represented among girls with premature pubarche and progressively evolve.
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http://dx.doi.org/10.1210/jcem.87.7.8632 | DOI Listing |
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Türkiye.
Objectives: Premature ovarian insufficiency (POI) affects 1 in 10,000 children, with its molecular causes largely unknown. Adult studies suggest that low androgen levels induce ovarian insufficiency, but data on about this in children is limited. This study aims to assess the prevalence of low androgen levels in childhood POI and its relationship with adrenal insufficiency.
View Article and Find Full Text PDFEur J Med Genet
December 2024
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Denmark.
KAT6A syndrome or Arboleda-Tham Syndrome (ARTHS; OMIM #616268) is a syndromic neurodevelopmental disorder mainly presenting with variable degrees of intellectual disability (ID) and developmental delay (DD), especially speech delay, hypotonia and autism spectrum disorders/behavioral problems. Multiple organ-systems including eyes, heart, gastrointestinal and neurological system can be involved. Other phenotypic features with a suggested association to KAT6A include immune dysfunction and pituitary anomalies.
View Article and Find Full Text PDFHorm Mol Biol Clin Investig
August 2024
Isfahan Endocrine & Metabolism Research Center, 48455 Isfahan University of Medical Sciences, Isfahan, Iran.
Objectives: Congenital adrenal hyperplasia is an autosomal recessive disorder caused by complete or partial defects in one of the several steroidogenic enzymes involved in synthesizing of cortisol from cholesterol in the adrenal gland. Prompt and proper treatment of the disease would reduce symptoms and the level of androgens in patients. The present study aimed to evaluate the demographic characteristics and clinical findings of these patients.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
July 2024
Instituto da Criança e do Adolescente, University of Sao Paulo - Pediatric Endocrinology Department, Sao Paulo, Brazil.
Introduction: Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypothalamic-pituitary deficiencies including hypogonadism. In girls with PWS, hypogonadism can present early in childhood, leading to genital hypoplasia, delayed puberty, incomplete pubertal development, and infertility. In contrast, girls can present with premature activation of the adrenal axis leading to early pubarche and advanced bone age.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
August 2024
Division of Pediatric Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City, Missouri, USA.
Objectives: Children with Prader-Willi Syndrome (PWS) may develop premature pubarche (PP). We investigated the frequency of PP, and its potential precursors and sequelae, in PWS.
Design, Patients And Measurements: A chart review of children with PWS treated at our institution between 1990 and 2021 was performed.
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