Freemartinism

Last update 01 Nov 2024

Basic Info

Synonyms

Freemartinism, フリーマーチン, フリーマーティン

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Introduction

A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric "female"(CHIMERISM).

100 Clinical Results associated with Freemartinism

100 Translational Medicine associated with Freemartinism

0 Patents (Medical) associated with Freemartinism

Literatures (Medical) associated with Freemartinism

01 Jul 2024·Domestic Animal Endocrinology

Age-specific analysis of anti-müllerian hormone and liver biochemical parameters in freemartin holstein calves and heifers: A pilot study

Article

Author: Yildiz, Mehmet ; Sengul, Sultan ; Koker, Afsin ; Kocaer, Ismail Ilker ; Gungor, Orsan ; Aslan, Yigit Can ; Tasal, Ibrahim ; Bozkurt, Gokhan ; Ak, Serdar Dursun ; Kaya, Feyyaz ; Sarıbas, Halil Erkan

Freemartinism is the most common congenital anomaly among sexual disorders in dairy cows. This syndrome typically occurs in different-sex twin pregnancies and causes vascular anastomoses to form with the placenta in the early stages of fetal development. The study aims to determine the effectiveness of Anti-müllerian hormone (AMH) levels in calves and heifers of different age groups for diagnostic factors and to investigate the potential consequences of different hormone levels in different age groups on some liver biochemical parameters. The study involved 50 cattle from diverse age categories, divided into the freemartin group (FM Group, n=25) and the control group (C Group, n=25). Both FM and control groups were further divided into early-age (3-5 months), middle-aged (5-9 months), and older-aged groups (9-12 months). Serum AMH levels, along with total protein, albumin, and total cholesterol levels, were measured. While no statistically significant difference in AMH levels was observed in the early-age group (P:0.53), significant differences were determined in the middle (P:0.015) and older-age groups (P:0.01), where the FM group exhibited significantly decreased AMH levels compared to the control group. The evaluation of liver biochemistry revealed a statistically significant difference in total protein levels between the FM and control groups in the older age group (P:0.033). Consequently, it is reasonable to suggest that AMH levels may serve as a valid parameter for diagnosing freemartin syndrome in calves aged older than five months. Conversely, particularly in young calves, no significant differences in liver functionality were observed between freemartin-affected and healthy calves.

01 Jul 2020·Equine Veterinary JournalQ1 · AGRICULTURAL & FORESTRY SCIENCE

Application of droplet digital PCR in diagnosing of X monosomy in mares

Q1 · AGRICULTURAL & FORESTRY SCIENCE

Article

Author: Switonski, Marek ; Szczerbal, Izabela ; Nowacka‐Woszuk, Joanna ; Kopp‐Kuhlman, Christine ; Mackowski, Mariusz

AbstractBackgroundX monosomy is the most common disorder of sex development in horses. Although cytogenetic analysis is still the gold standard in the diagnosis of equine X monosomy, novel molecular techniques are being sought to quickly and reliably detect this chromosome abnormality.ObjectivesThe goal of this study was to evaluate the usefulness of a novel variant of the PCR technique—namely, droplet digital PCR (ddPCR)—in the detection of X monosomy in mares.Study designA proof of concept of the usefulness of ddPCR in diagnosing an abnormal number of X chromosomes in mares.MethodsWe examined an infertile mare using cytogenetic (fluorescent in situ hybridisation—FISH) and molecular (droplet digital PCR—ddPCR) techniques. The X chromosome copy number in ddPCR was estimated via detection of the AMELX gene copy number. In addition, 70 mares homozygous for X‐linked microsatellite marker (LEX3) were examined by ddPCR. For all mares, a PCR search for the Y‐linked SRY gene was also performed.ResultsCytogenetic analysis and ddPCR gave concordant results, indicating pure X monosomy in the studied mare. Of the 70 additional mares examined by ddPCR, a single copy of the X chromosome was found in two cases. All mares were SRY‐negative and thus both freemartinism, manifested by leucocyte XX/XY chimerism, and sex reversal syndrome (XX, SRY‐positive) could be excluded.Main limitationsThe ddPCR approach does not allow for unequivocal identification of mosaicism (63,X/64,XX or 65,XXX/64,XX), but may give an indication that further cytogenetic analysis is necessary.ConclusionThe ddPCR approach appeared to be useful for diagnosing nonmosaic X monosomy in mares. If the number of X chromosome copies in a mare, as determined by ddPCR, differs from two (in our study, <1.8 or >2.2), additional cytogenetic investigation is recommended with the aim of detecting the mosaicism.

01 Nov 2019·Journal of Dairy Science

Technical note: Droplet digital PCR as a new molecular method for a simple and reliable diagnosis of freemartinism in cattle

Article

Author: Switonski, M ; Szczerbal, I ; Albarella, S ; Nowacka-Woszuk, J

Freemartinism is the most common type of disorder of sex development in cattle. It leads to sterility in the female co-twin in heterosexual twin pregnancy, and is thus a serious problem in cattle production. The incidence of freemartin syndrome is directly dependent on the prevalence of twinning, which has increased in dairy cattle populations in recent years. Thus, early and rapid identification of freemartins is needed to reduce economic loss. Of the various methods used to diagnose this condition, identifying the XX and XY cell lines in blood samples using cytogenetic techniques is the gold standard; however, this technique is time consuming. Faster and more reliable techniques are thus being sought. Droplet digital PCR (ddPCR) is a third-generation PCR method and it has not previously been used to detect XX/XY leukocyte chimerism in cattle. The aim of the present study was to verify the usefulness of ddPCR to detect and quantify leukocyte chimerism in this species. The X and Y copy numbers were estimated by identifying the copy numbers of 2 genes located on the sex chromosomes: amelogenin X-linked (AMELX) on the X chromosome and amelogenin Y-linked (AMELY) on the Y chromosome. In the first step, we performed ddPCR on samples prepared from female DNA mixed with male DNA in serially diluted proportions. We determined that the sensitivity of this method was sufficient to detect a low-frequency (<5%) cell line. In the next step, ddPCR was used to analyze 22 Holstein Friesian freemartins. Cytogenetic evaluation of these cases revealed leukocyte chimerism; the proportion of XX and XY metaphase spreads varied over a wide range, from XX (98%)/XY (2%) to XX (4%)/XY (96%). The use of ddPCR facilitated the precise estimation of the ratio of the copy number of X to Y sex chromosomes. In all cases, the XX/XY chimerism detected by cytogenetic analysis was confirmed using ddPCR. The method turned out to be very simple, accurate, and sensitive. In conclusion, we recommend the ddPCR method for fast and reliable detection of XX/XY leukocyte chimerism in cattle.

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Freemartinism

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