Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study
ABSTRACT BACKGROUND: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. OBJECTIVE: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Associação Paulista de Medicina
2022-11-01
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| Series: | São Paulo Medical Journal |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802022005029201&tlng=en |
| _version_ | 1828124598700343296 |
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| author | Luísa Riccetto Tarsis Paiva Vieira Nilma Lucia Viguetti-Campos Tais Nitsch Mazzola Mara Sanches Guaragna Helena Fabbri-Scallet Maricilda Palandi de Mello Antonia Paula Marques-de-Faria Andrea Trevas Maciel-Guerra Gil Guerra Junior |
| author_facet | Luísa Riccetto Tarsis Paiva Vieira Nilma Lucia Viguetti-Campos Tais Nitsch Mazzola Mara Sanches Guaragna Helena Fabbri-Scallet Maricilda Palandi de Mello Antonia Paula Marques-de-Faria Andrea Trevas Maciel-Guerra Gil Guerra Junior |
| author_sort | Luísa Riccetto |
| collection | DOAJ |
| description | ABSTRACT BACKGROUND: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. OBJECTIVE: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies versus undefined causes DESIGN AND SETTING: A cross-sectional retrospective study conducted at a public university hospital in Campinas (Brazil) METHODS: All men aged 20–40 years with non-obstructive azoospermia were included in the analysis. RESULTS: The 107 cases included 14 with Klinefelter syndrome (KS) (13%), 1 with mosaic KS, 4 with sex development disorders (2 testicular XX, 1 NR5A1 gene mutation, and 1 mild androgen insensitivity syndrome) (4%), 9 with other non-obstructive azoospermia etiologies (8%), and 79 with undefined causes. The 22 chromosomal anomaly cases (14 KS, 1 mosaic KS, 2 testicular XX, 4 sex chromosome anomalies, and 1 autosomal anomaly) were compared with the 79 undefined cause cases. The KS group had lower average testicular volume, shorter penile length, and lower total testosterone levels but greater height, arm span, serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels, and gynecomastia frequency (absent in the undefined group and affecting more than half of the KS group). Patients with testicular XX DSD had LH, FSH, and penile length data intermediate between the KS and undefined cause groups, testicular volume similar to the KS group, and other data similar to the undefined group. CONCLUSION: Clinical and laboratory data differentiate men with non-obstructive azoospermia and chromosomal anomalies, particularly KS and testicular XX, from those with undefined causes or other chromosomal anomalies. |
| first_indexed | 2024-04-11T15:08:16Z |
| format | Article |
| id | doaj.art-43cb5aac28cd44e196b1b2b76f0d93da |
| institution | Directory Open Access Journal |
| issn | 1806-9460 |
| language | English |
| last_indexed | 2024-04-11T15:08:16Z |
| publishDate | 2022-11-01 |
| publisher | Associação Paulista de Medicina |
| record_format | Article |
| series | São Paulo Medical Journal |
| spelling | doaj.art-43cb5aac28cd44e196b1b2b76f0d93da2022-12-22T04:16:43ZengAssociação Paulista de MedicinaSão Paulo Medical Journal1806-94602022-11-0110.1590/1516-3180.2022.0281.r1.30082022Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective studyLuísa Riccettohttps://orcid.org/0000-0003-0154-2218Tarsis Paiva Vieirahttps://orcid.org/0000-0003-4027-8341Nilma Lucia Viguetti-Camposhttps://orcid.org/0000-0001-8452-1935Tais Nitsch Mazzolahttps://orcid.org/0000-0003-4701-7734Mara Sanches Guaragnahttps://orcid.org/0000-0002-6508-8571Helena Fabbri-Scallethttps://orcid.org/0000-0002-2738-1814Maricilda Palandi de Mellohttps://orcid.org/0000-0003-0521-9100Antonia Paula Marques-de-Fariahttps://orcid.org/0000-0002-5454-8982Andrea Trevas Maciel-Guerrahttps://orcid.org/0000-0002-4850-8079Gil Guerra Juniorhttps://orcid.org/0000-0002-2991-7678ABSTRACT BACKGROUND: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. OBJECTIVE: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies versus undefined causes DESIGN AND SETTING: A cross-sectional retrospective study conducted at a public university hospital in Campinas (Brazil) METHODS: All men aged 20–40 years with non-obstructive azoospermia were included in the analysis. RESULTS: The 107 cases included 14 with Klinefelter syndrome (KS) (13%), 1 with mosaic KS, 4 with sex development disorders (2 testicular XX, 1 NR5A1 gene mutation, and 1 mild androgen insensitivity syndrome) (4%), 9 with other non-obstructive azoospermia etiologies (8%), and 79 with undefined causes. The 22 chromosomal anomaly cases (14 KS, 1 mosaic KS, 2 testicular XX, 4 sex chromosome anomalies, and 1 autosomal anomaly) were compared with the 79 undefined cause cases. The KS group had lower average testicular volume, shorter penile length, and lower total testosterone levels but greater height, arm span, serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels, and gynecomastia frequency (absent in the undefined group and affecting more than half of the KS group). Patients with testicular XX DSD had LH, FSH, and penile length data intermediate between the KS and undefined cause groups, testicular volume similar to the KS group, and other data similar to the undefined group. CONCLUSION: Clinical and laboratory data differentiate men with non-obstructive azoospermia and chromosomal anomalies, particularly KS and testicular XX, from those with undefined causes or other chromosomal anomalies.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802022005029201&tlng=enSperm countInfertilityGonadotropinsDisorders of sex developmentArm spanHeightSexual development disorders |
| spellingShingle | Luísa Riccetto Tarsis Paiva Vieira Nilma Lucia Viguetti-Campos Tais Nitsch Mazzola Mara Sanches Guaragna Helena Fabbri-Scallet Maricilda Palandi de Mello Antonia Paula Marques-de-Faria Andrea Trevas Maciel-Guerra Gil Guerra Junior Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study São Paulo Medical Journal Sperm count Infertility Gonadotropins Disorders of sex development Arm span Height Sexual development disorders |
| title | Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study |
| title_full | Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study |
| title_fullStr | Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study |
| title_full_unstemmed | Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study |
| title_short | Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study |
| title_sort | clinical and laboratory differences between chromosomal and undefined causes of non obstructive azoospermia a retrospective study |
| topic | Sperm count Infertility Gonadotropins Disorders of sex development Arm span Height Sexual development disorders |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802022005029201&tlng=en |
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