Healthy birth after testicular extraction of sperm and <scp>ICSI</scp> from an azoospermic man with mild androgen insensitivity syndrome caused by an androgen receptor partial loss‐of‐function mutation
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
CONTEXT: The androgen receptor (AR) is essential for the development and maintenance of the male phenotype, and for spermatogenesis. Mutations in the AR gene cause a wide variety of androgen insensitivity syndromes (AIS), ranging from complete feminization to phenotypic males with infertility. OBJECTIVE: We report the first birth achieved after intracytoplasmic sperm injection (ICSI) with sperm from an azoospermic man with an AR mutation associated with mild AIS (MAIS). PATIENTS AND METHODS: A couple with primary infertility was referred to our centre. The man had azoospermia with testicular hypotrophy and an undervirilized phenotype despite a normal plasma testosterone level. His androgen sensitivity index and serum anti-mullerian hormone (AMH) levels were elevated, pointing to AIS. Molecular analysis of the AR gene revealed a point mutation resulting in an F754S substitution (renumbered F755S in the 2012 McGill University AR gene database), in the ligand-binding domain of the protein, and further analysis indicated impaired receptor function. RESULTS: After genetic counselling of the couple, oocytes were retrieved after controlled ovarian hyperstimulation, and sperm were obtained simultaneously by testicular extraction for ICSI. Nine embryos were obtained. Two were transferred and two were suitable for cryopreservation. A pregnancy was obtained and a healthy girl, carrying the F754S AR mutation, was born at 37 weeks of gestation. AR and AMH were detected by immunohistochemistry in the patient's testicular specimens. AMH immuno-staining was intense in tubules without spermatogenesis and weak in those with ongoing spermatogenesis. CONCLUSION: A healthy child can be obtained by testicular extraction and ICSI despite azoospermia in MAIS. The parents must be informed of the X-linked transmission of the mutation to their descendants. The relationship between AR signalling, testicular AMH expression and spermatogenesis in this patient is discussed.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it