The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Clinical Characteristics in Females
3.2. Genetic Investigations
3.3. Male Characteristics and Testicular Histopathology
3.4. Bone Phenotype and Investigations
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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IV.1 | IV.5 | IV.2 | IV.3 | IV.6 | III.3 | III.4 | |
---|---|---|---|---|---|---|---|
Gender | female | female | female | male | male | male | female |
MCM9 status | c.394C>T, p.Arg132* homozyg. | c.394C>T, p.Arg132* homozyg. | c.394C>T, p.Arg132* homozyg. | c.394C>T, p.Arg132* homozyg. | c.394C>T, p.Arg132* heterozyg. | NA | NA |
Pubertal status | Absent | Absent | Absent | Normal | Normal | Normal; fertile | Normal; fertile |
FSH (U/L) | 117 | 112 | 106 | 5 | 4.5 | NA | NA |
LH (U/L) | 41 | 24 | 56 | 4.8 | 3.8 | NA | NA |
Estradiol (ng/L) | <24 | <24 | <24 | 31 | NA | NA | NA |
Testosterone (nmol/L) | 1.36 | 1.2 | 0.5 | 23.7 | 28.8 | NA | NA |
L spine Z-score | B/L 18 mo. −4.2 −3.2 | B/L 18 mo −4.8 −3.0 | −3.4 | −3.1 | −1.1 | −3.0 | −1.2 |
Fem neck Z-score | B/L 18 mo. −3.7 −2.9 | B/L 18 mo −2.9 −1.7 | −2.6 | −1.7 | −2.2 | −2.3 | −0.7 |
Sperm analysis | - | - | - | Non-obstructive azoospermia | ND | ND | - |
COL1A2 status | c.106G/G | c.106G/G | c.106G/A | c.106G/A | c.106G/A | c.106G/G | c.106G/A |
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Potorac, I.; Laterre, M.; Malaise, O.; Nechifor, V.; Fasquelle, C.; Colleye, O.; Detrembleur, N.; Verdin, H.; Symoens, S.; De Baere, E.; et al. The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency. J. Clin. Med. 2023, 12, 990. https://doi.org/10.3390/jcm12030990
Potorac I, Laterre M, Malaise O, Nechifor V, Fasquelle C, Colleye O, Detrembleur N, Verdin H, Symoens S, De Baere E, et al. The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency. Journal of Clinical Medicine. 2023; 12(3):990. https://doi.org/10.3390/jcm12030990
Chicago/Turabian StylePotorac, Iulia, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur, Hannah Verdin, Sofie Symoens, Elfride De Baere, and et al. 2023. "The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency" Journal of Clinical Medicine 12, no. 3: 990. https://doi.org/10.3390/jcm12030990