IGF-I, testosterone and estradiol levels were evaluated in 8 girls with androgen insensitivity immediately before and from 1 to 3 months after bilateral gonadectomy. In 6 patients GH secretion was evaluated before and after gonadectomy by means of an arginine test and in 3 a sleep test was also performed. Mean IGF-I level before surgery was significantly higher than that of normal controls (2850 +/- 1230 vs 1680 +/- 1040 U/l, p less than 0.025). After gonadectomy a significant decrease was evident for testosterone, estradiol and IGF-I levels. A positive correlation between IGF-I and estradiol levels was present before surgery (p less than 0.005). The presence of a correlation with estradiol, but not with testosterone, and the knowledge that this syndrome is due to an insensitivity to androgens, but not to estradiol, support the hypothesis that the estradiol level is the major determinant for the control of IGF-I values in these patients. After gonadectomy, a substantial decrease of the 12-h nocturnal GH secretion was evident. Comparison of the nocturnal GH levels before surgery of the 3 patients with those of normal subjects of the same age showed hormonal values higher than 1 SD over the mean values of control subjects. Even if the number of patients studied is too small to draw any definitive conclusion, these data may suggest that sex hormones play a role in the control of IGF-I levels, a function which seems to be mediated through GH secretion.
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http://dx.doi.org/10.1530/acta.0.1210777 | DOI Listing |
J Appl Genet
January 2025
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogenic/likely pathogenic variants in patients with isolated infertility or puberty delay using a targeted NGS technique.
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December 2024
Department of Oncologic Pathology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
Prostate cancer (PCa) is a heterogeneous disease that exhibits androgen sensitivity and responsiveness to androgen deprivation therapy (ADT). However, ADT induces only temporary remission, and the majority of PCa cases eventually progress to castration-resistant PCa (CRPC). During the development and progression of CRPC, androgen sensitivity and androgen receptor (AR) dependency in PCa cells are often deceased or lost due to ADT or spontaneously arising AR variants even before starting ADT.
View Article and Find Full Text PDFbioRxiv
December 2024
Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, MI, 48109.
Inadequate response to androgen deprivation therapy (ADT) frequently arises in prostate cancer, driven by cellular mechanisms that remain poorly understood. Here, we integrated single-cell RNA sequencing, single-cell multiomics, and spatial transcriptomics to define the transcriptional, epigenetic, and spatial basis of cell identity and castration response in the mouse prostate. Leveraging these data along with a meta-analysis of human prostates and prostate cancer, we identified cellular orthologs and key determinants of ADT response and resistance.
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January 2025
Department of Obstetrics and Gynecology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea. Electronic address:
Appl Clin Genet
December 2024
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, 93-338, Poland.
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the gene, two of which had not been previously described.
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