Results 51 to 60 of about 2,122 (197)

21‐Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency (21‐OHD CAH) is an autosomal recessive genetic condition that results from pathogenic variants in the CYP21A2 gene. Noncarrier parents are found in a small percentage of cases, typically due to de novo variants. However, uniparental disomy (UPD) should also be considered.
Michelle L. Kluge, Lynn Schema, Katy Schroepfer, Emily K. Thoreson, Kyriakie Sarafoglou, Ross A. Rowsey, Cherisse A. Marcou, Ann M. Moyer, Matthew J. Schultz, Kalyani Sen   +9 more
wiley   +1 more source

Surgical approach to an adrenocortical carcinoma with right atrial extension in a nine-year old male: Our experience

Journal of Pediatric Surgery Case Reports, 2020
Adrenocortical carcinoma with intracaval and intra atrial extension is an extremely rare occurrence in the pediatric population. We report the case of a nine‐year‐old male who presented to our outpatient department with facial swelling, weight gain, and ...
Ayesha Saleem, Sarah Jeelani, Zain Baig, Muhammad Arshad   +3 more
doaj   +1 more source

Bioarcheological Perspectives on the Timing of Adolescence in Rural Avar‐Age Austria, 7th–9th Centuries ce

American Journal of Biological Anthropology, Volume 188, Issue 1, September 2025.
ABSTRACT Objectives This study provides insights into adolescent development during the early medieval period in Austria and offers a point of comparison of the timing of sexual maturation relative to the Imperial Roman and the late medieval periods. Materials and Methods The timing of adolescent development of 89 individuals in two rural cemeteries ...
Paul Klostermann, Mary Lewis, Margit Berner, Sabine Eggers, Bendeguz Tobias, Ke Wang, Zuzana Hofmanová, Doris Pany‐Kucera   +7 more
wiley   +1 more source

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

Archives of Endocrinology and Metabolism, 2022
Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non ...
Rita Santos Silva, Berta Carvalho, Jorge Pedro, Cíntia Castro-Correia, Davide Carvalho, Filipa Carvalho, Manuel Fontoura   +6 more
doaj   +1 more source

PAPSS2‐Related Brachyolmia: Clinical and Radiographic Features and Growth Hormone Therapy of One Chinese Case

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Brachyolmia type 4 (BCYM4, OMIM 612847) is a rare skeletal dysplasia characterized by mild epiphyseal and metaphyseal abnormalities. We report a Chinese boy with brachyolmia caused by a novel compound heterozygous mutation in the PAPSS2 gene.
Wenjun Long, Xiaoping Luo
wiley   +1 more source

Sex and Pubertal Status in Relation to Wheezing, Asthma, and Lung Function Development in a Multi‐Ethnic Population‐Based Prospective Cohort

Pediatric Pulmonology, Volume 60, Issue 8, August 2025.
ABSTRACT Aim We examined if sex and puberty are associated with respiratory health, and if associations were modified by ethnicity, body mass index or allergic sensitization. Methods Among 3418 children of a multi‐ethnic population‐based cohort study, medical records provided information on sex.
Marina Attanasi, Annemiek Mian, Tarik Karramass, Liesbeth Duijts   +3 more
wiley   +1 more source

Isolated pubarche in girls

Problems of Endocrinology, 2004
A comparative prospective analysis of the course of puberty was made in girls with isolated pubarche. The obtained clinical, ultrasonic, and hormonal data corresponding to the formation of ovarian polycystosis in girls with isolated pubarche supported the hypothesis that it is of predictive value in the formation of the polycystic ovarian syndrome ...
openaire   +1 more source

Pubertal Pathways in Girls Enrolled in a Contemporary British Cohort

International Journal of Pediatrics, 2010
Data from the Avon Longitudinal Study of Parents and Children were used to describe initiation of secondary sexual characteristic development of girls.
Krista Yorita Christensen, Mildred Maisonet, Carol Rubin, Adrianne Holmes, W. Dana Flanders, Jon Heron, Jean Golding, Michael A. McGeehin, Michele Marcus   +8 more
doaj   +1 more source

Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
The overall genotype–phenotype concordance was found to be 73.1% (68/93). The expected concordance with the SW form of the null (n = 12) and A (n = 51) groups is 91.6% and 88.2%, respectively. While the percentage of the expected clinical form of SV in patients in group B (n = 5) was 80%, the concordance for the expected clinical form of NC for group C
Nurgul Atas, Murat Karaoglan, Gülper Nacarkahya   +2 more
wiley   +1 more source

Welche Rolle spielen die Geburtsmaße bei Kindern mit einer prämaturen Pubarche [PDF]

, 2015
1.1 HINTERGRUND UND ZIELE Die prämature Pubarche ist definiert, als das isolierte Auftreten von Schamhaaren vor dem 8. Lebensjahr bei Mädchen und vor dem 9. Lebensjahr bei Jungen.
Kittel, Yamina Sarah
core   +1 more source