A case report of spontaneous opening of congenitally fused labia in a female common marmoset (Callithrix jacchus) followed by pregnancy and birth of twins

Wedi, Edris; Nayudu, P.L.; Michelmann, H. W.

doi:10.1111/j.1600-0684.2011.00477.x

Cited by 6 publications

(7 citation statements)

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“…In cases where the sex of the female’s cotwin was reported, it was universally a male, and karyotyping or genotyping of females presenting with atypical genitalia revealed the presence of Y chromosomes in lymphocytes or Y chromosome-associated zinc-finger protein (Y-ZFP) [ 25 , 26 ]. Endocrine analyses of females indicated normative ovarian function including progesterone profiles consistent with ovulatory cycles [ 25 , 61 , 62 ] and low levels of testosterone [ 25 ] and its metabolic precursor androstenedione [ 62 ]. Ultrasound or post-mortem analyses revealed female-typical structures in the fallopian tubes, uterine horns and uterus, cervix, and vagina, ovaries that displayed primary and secondary follicles and corpora lutea, and no signs of testicular tissue [ 24 , 25 , 61 , 63 ].…”

Section: Discussionmentioning

confidence: 99%

Gene changes may minimize masculinizing and defeminizing influences of exposure to male cotwins in female callitrichine primates

et al. 2016

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BackgroundSexual differentiation in female mammals can be altered by the proximity of male littermates in utero, a phenomenon known as the intrauterine position effect (IUP). Among simian primates, callitrichines (marmosets and tamarins) are likely candidates for IUP, since they exhibit obligate dizygotic twinning and fetuses share extensive vascularization in utero. In this paper, we determined whether female reproductive parameters are altered by gestating with a male twin and evaluated changes in genes associated with anti-Müllerian and steroid hormones in twinning callitrichine primates.MethodsWe assessed the impact of gestation with male cotwins on reproductive performance and survivorship in female marmosets (Callithrix) and lion tamarins (Leontopithecus), contrasting measures for females gestated with one or more littermates (M+) or no male littermates (0M). We compared targeted coding regions for genes involved in steroidal and anti-Müllerian hormone mediation of sexual differentiation for representatives of twinning callitrichines (Callithrix, Saguinus, and Leontopithecus) with closely related New World primates that produce single births (Saimiri and Callimico).ResultsIUP effects in females were absent in female callitrichine primates: age at first ovulation, average litter size, and the proportion of stillborn infants, and lifetime survivorship did not differ between M+ and 0M females. We documented multiple nonsynonymous substitutions in genes associated with steroid synthesis, transport, and cellular action (SRD5A2, CYP19A1, SHBG, and AR) and with anti-Müllerian hormone (AMH and AMHR2) in callitrichines. In the only callitrichine to produce single infants (Callimico), two genes contained nonsynonymous substitutions relative to twinning callitrichines (CYP19A1 and AMRHR2); these substitutions were identical with nontwinning Saimiri and humans, suggesting a reversion to an ancestral sequence.ConclusionsIn spite of a shared placental vasculature with opposite-sex twins throughout embryonic and fetal development, female callitrichine primates gestated with a male cotwin exhibit no decrement in reproductive performance relative to females gestated with female cotwins. Hence, IUP effects on female reproduction in callitrichines are modest. We have identified mutations in candidate genes relevant for steroid hormone signaling and metabolism, and especially in AMH-related genes, that are likely to alter protein structure and function in the callitrichines. These mutations may confer protection for females from the masculinizing and defeminizing influences of gestating with a male cotwin.Electronic supplementary materialThe online version of this article (doi:10.1186/s13293-016-0081-y) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Gene changes may minimize masculinizing and defeminizing influences of exposure to male cotwins in female callitrichine primates

et al. 2016

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“…The cause of the phenomenon remains unclear, and to date, there are no other publications, with the exception of two previous small reports from our own group. One of these studies suggested a possible genetic link, and the case study has shown that the opening of the labia may be delayed in affected females, and that the opening occurs spontaneously, not through a forced entry from a sexually active male partner; subsequent pregnancy and birth in the same case study demonstrated normal function of the internal reproductive organs. Two publications from other groups have reported similar cases.…”

Section: Introductionmentioning

confidence: 50%

“…Since in marmoset this condition is not associated with an impaired reproductive function, once the vagina is wide enough open, it is unclear if it needs to be treated. It has, however, been routine practice in DPZ to surgically open post‐pubertal females which are intended for breeding, as mentioned in the Introduction.…”

Section: Discussionmentioning

confidence: 99%

Developmental and family history‐based analysis of congenital fused labia phenotype in the captive common marmoset (Callithrix jacchus)

Wedi

Tkachenko

Valle

et al. 2018

J of Medical Primatology

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Background Congenital fused labia (CFL) is defined as a failure or significant delay in the opening of the juvenile sealed labia majora. This phenotype is known to be variably common in adult captive female marmosets but has never been investigated in detail before. Materials and Methods Here, we define, describe and quantify the variations in the degree of closure of the vulva in 122 captive marmosets (Callithrix jacchus) from 1.2 to 42 months old and include colony analysis. Results There was a negative correlation between the degree of labial fusion and animal age after prepubertal period (P < 0.05). CFL females had higher number CFL relatives (4.3 ± 0.6 vs 2.4 ± 0.5 for non‐CFL, P < 0.05) and more external ancestors compared to non‐CFL (P < 0.05). Conclusions Our results therefore suggest that CFL phenotype is most likely associated with epigenetic effects induced by the captive environment and colony management strategy of extensive crossing of family lines to promote heterozygosity.

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“…The CFL syndrome was described in an elderly woman (6) and in common marmosets (5,7). This phenotype in heifers was reported by Oettlé and Coubrough (8) and Balasubramanian et al (9) and recently in a calf (10).…”

Section: Introductionmentioning

confidence: 70%

“…The congenitally fused labia (CFL) syndrome is defined as a variable occlusion of the labia majora by connective tissue (5). The CFL syndrome was described in an elderly woman (6) and in common marmosets (5,7).…”

Section: Introductionmentioning

confidence: 99%

The treatment of congenitally developed fused vulva labia in a Brown-Swiss heifer

Selçuk¹

2014

Turk J Vet Anim Sci

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A series of 3-[(4-substitutedpiperazin-1-yl)methyl]-1H -indole derivatives were synthesized, and their structures were confirmed by spectral analysis. All the compounds were tested for their cytotoxic activity in vitro against 3 human tumor cell lines: human liver (HUH7), breast (MCF7), and colon (HCT116). Among the designed derivatives, most of the compounds showed significant cytotoxicity against liver and colon cancer cell lines with lower IC 50 concentrations than the standard drug 5-fluorouracil. Compound 3s, with 3,4-dichlorophenyl substituent on the piperazine ring, was the most active in suppressing the growth of all screened cancer cells.

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A case report of spontaneous opening of congenitally fused labia in a female common marmoset (Callithrix jacchus) followed by pregnancy and birth of twins

Abstract: A first case of spontaneous opening of congenitally fused labia (CFL phenotype) in a captive common marmoset followed by pregnancy and birth is presented here. The occurrence of this phenotype has been previously published in captive marmosets, but so far the etiology is unknown.

Cited by 6 publications

References 9 publications

Gene changes may minimize masculinizing and defeminizing influences of exposure to male cotwins in female callitrichine primates

Gene changes may minimize masculinizing and defeminizing influences of exposure to male cotwins in female callitrichine primates

Developmental and family history‐based analysis of congenital fused labia phenotype in the captive common marmoset (Callithrix jacchus)

The treatment of congenitally developed fused vulva labia in a Brown-Swiss heifer

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