Objective: X-linked adrenal hypoplasia congenita (AHC, OMIM 300200) due to mutations in the DAX-1 gene is frequently associated to hypogonadotrophic hypogonadism (HHG, OMIM 238320). Clinical variants with delayed-onset have been recognized. The objective of this study is to assess Sertoli cell function throughout pubertal development in patients with childhood-onset AHC due to stop mutations in the DAX-1 gene.
Design: Observational follow-up study of gonadotrophin pulsatility pattern, and serum levels of antimüllerian hormone and inhibin B through pubertal development in these patients.
Patients: Three patients belonging to two families with AHC were included in this study.
Measurements: The gonadotrophic pattern, serum inhibin B and antimüllerian hormone were determined in relation to clinical Tanner stage of pubertal development.
Results: One patient showed a marked elevation in serum FSH concomitantly with low inhibin B and antimüllerian hormone levels, indicating a primary testicular dysfunction. The other two patients showed a gonadotrophic pattern of HHG, and their serum levels of inhibin B and antimüllerian hormone also reflected a moderate primary testicular dysfunction. The three patients were azoospermic.
Conclusions: These cases give further insight into the clinical spectrum of phenotypes of the hypothalamic-pituitary-gonadal axis in patients with variants in hypogonadism associated with childhood-onset X-linked AHC due to DAX-1 mutations.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1365-2265.2007.03026.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Usefulness of mid-regional pro-adrenomedullin for stratifying risk in emergency department patients with solid tumors attended for febrile neutropenia secondary to chemotherapy.
Emergencias
December 2024
Servicio de Análisis Clínicos, Hospital Universitario Santa Lucía, Cartagena, Murcia, España.
Objective: To analyze the usefulness of mean mid-regional pro-adrenomedullin (MR-proADM) level to stratify risk in emergency department patients with solid tumors attended for febrile neutropenia after chemotherapy. To compare risk prediction with MR-proADM to that of conventional biomarkers and scores on the Multinational Association for Supportive Care in Cancer (MASCC) score.
Methods: Prospective observational cohort study enrolling patients with solid tumors who developed febrile neutropenia after chemotherapy.
Role of Seed Therapy on Estrous and Non-Estrous Cycle in Healthy Female Rats.
Food Sci Nutr
January 2025
Seed cycling therapy (SCT) involves the consumption of specific seeds during the follicular and luteal phases of the menstrual cycle to help balance reproductive hormones. This study aimed to investigate the effects of SCT on healthy female Wistar albino rats to prevent hormonal imbalances. For SCT, a seed mixture (SM1) consisting of flax, pumpkin, and soybeans (estrogenic seeds) was administered at doses of 5.
View Article and Find Full Text PDFCorrelation between Autoimmune Hashimoto's Thyroiditis and Infection: A Case-Control Study.
Middle East J Dig Dis
October 2024
Geriatric Health Research Center, Department of Physiology, School of Medicine, Birjand University of Medical Sciences, Birjand, Iran.
Background: Among environmental factors, infectious agents, including , can act as triggers for autoimmune thyroid diseases. Therefore, this study aimed to investigate the correlation between autoimmune Hashimoto's thyroiditis with infection.
Methods: The participants in this case-control study were 74 individuals 17-62 years who were divided into two groups, including 38 diagnosed Hashimoto's thyroiditis patients from an outpatient clinic of endocrinology and 36 apparently healthy individuals that were selected from family members of cases group age-matched and sex-matched.
The whole-genome dissection of root system architecture provides new insights for the genetic improvement of alfalfa ( L.).
Hortic Res
January 2025
Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China, 100193.
Appropriate root system architecture (RSA) can improve alfalfa yield, yet its genetic basis remains largely unexplored. This study evaluated six RSA traits in 171 alfalfa genotypes grown under controlled greenhouse conditions. We also analyzed five yield-related traits in normal and drought stress environments and found a significant correlation (0.
View Article and Find Full Text PDFRadical Resection of Differentiated Thyroid Cancer in Elderly Patients: Evaluation of the Efficacy of the Immunocolloidal Gold Strip Method Combined with Nanocarbon Negative Imaging Tracing Technology for Parathyroid Gland Imaging.
J Invest Surg
December 2025
The First Affiliated Hospital of Hebei North University, Zhangjiakou, China.
Objective: Extant imaging methods used for the proper identification of the parathyroid glands to prevent post-operative hypothyroidism associated with the resection of differentiated thyroid cancer (DTC) are limited by factors such as low specificity, high cost, and technical complexity. This study, therefore, sought to investigate the efficacy of the immunocolloidal gold strip method combined with nanocarbon negative imaging tracing technology for parathyroid gland imaging during radical resection of DTC in elderly patients.
Methods: A total of 100 elderly patients with DTC were enrolled and randomly divided into two groups: the control group and the observation group.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!