MicroRNAs May Play an Important Role in Sexual Reversal Process of Chinese Soft-Shelled Turtle, Pelodiscus sinensis

The Chinese soft-shelled (Pelodiscus sinensis) turtle exhibits obvious sex dimorphism, which leads to the higher economic and nutritional value of male individuals. Exogenous hormones can cause the transformation from male to female phenotype during gonadal differentiation. However, the molecular mechanism related to the sexual reversal process is unclear. In this study, we compared the difference between the small RNAs of male, female, and pseudo-female turtles by small RNA-seq to understand the sexual reversal process of Chinese soft-shelled turtles. A certain dose of estrogen can cause the transformation of Chinese soft-shelled turtles from male to female, which are called pseudo-female individuals. The result of small RNA-seq has revealed that the characteristics of pseudo-females are very similar to females, but are strikingly different from males. The number of the microRNAs (miRNAs) of male individuals was significantly less than the number of female individuals or pseudo-female individuals, while the expression level of miRNAs of male individuals were significantly higher than the other two types. Furthermore, we found 533 differentially expressed miRNAs, including 173 up-regulated miRNAs and 360 down-regulated miRNAs, in the process of transformation from male to female phenotype. Cluster analysis of the total 602 differential miRNAs among females, males, and pseudo-females showed that miRNAs played a crucial role during the sexual differentiation. Among these differential miRNAs, we found 12 miRNAs related to gonadal development and verified their expression by qPCR. The TR-qPCR results confirmed the differential expression of 6 of the 12 miRNAs: miR-26a-5p, miR-212-5p, miR-202-5p, miR-301a, miR-181b-3p and miR-96-5p were involved in sexual reversal process, which was consistent with the results of omics. Using these six miRNAs and some of their target genes, we constructed a network diagram related to gonadal development. We suggest that these miRNAs may play an important role in the process of effective sex reversal, which would contribute to the breeding of all male strains of Chinese soft-shelled turtles.

Very Early Onset of Leber’s Mitochondrial Optic Neuropathy in Pediatric Females: Case Report and Review of the Literature

BackgroundLeber’s hereditary optic neuropathy is a rare mitochondrial disease that usually begins in the second/third decade of life and affects generally young adult males. The information is scarce on the female phenotype particularly when onset is at a very young age and the diagnosis is challenged by other more frequent conditions. Aim of this study is to highlight the pediatric female phenotype by a literature review and by adding a new case.MethodsThe literature search was conducted on Pubmed in the period September 2020-February 2021 using “Child”, “Leber Hereditary Optic Neuropathy”, “females” “girls” keywords. We add a three years old girl with genetically confirmed Leber’s hereditary optic neuropathy.Results55 of 968 articles reported pediatric in girls accounting for 226 cases, male to female ratio 1,8:1. Mean age at onset was 11 years. The onset at the age of 3 years was described in only 3 girls, including our case. Acute bilateral mild visual impairment was the most common clinical presentation, associated to papilledema in 14% of the cases who underwent fundus oculi examination. Partial visual recovery occurred in 50% (30/60). Idebenone treatment was administered in 5/30. ConclusionLHON is extremely rare in very young females and represents a diagnostic challenge for the pediatrician. It should be considered even in young girls with acute-subacute visual loss, bilateral pseudo-papilledema, VEP changes non responding to steroid therapy.

Possible Epigenetic Origin of a Recurrent Gynandromorph Pattern in Megachile Wild Bees

Gynandromorphs, i.e., individuals with a mix of male and female traits, are common in the wild bees of the genus Megachile (Hymenoptera, Apoidea). We described new transverse gynandromorphs in Megachile pilidens Alfkeen, 1924 and analyze the spatial distribution of body parts with male vs. female phenotype hitherto recorded in the transverse gynandromorphs of the genus Megachile. We identified 10 different arrangements, nine of which are minor variants of a very general pattern, with a combination of male and female traits largely shared by the gynandromorphs recorded in 20 out of 21 Megachile species in our dataset. Based on the recurrence of the same gynandromorph pattern, the current knowledge on sex determination and sex differentiation in the honey bee, and the results of recent gene-knockdown experiments in these insects, we suggest that these composite phenotypes are possibly epigenetic, rather than genetic, mosaics, with individual body parts of either male or female phenotype according to the locally expressed product of the alternative splicing of sex-determining gene transcripts.

Pseudohermaphroditism in a female French Bulldog

Pseudohermaphroditism is a sexual anomaly, rare in dogs, in which the individual has both male and female characteristics; normally ambiguous external genitalia and male or female gonads. This report concerns a 5-month-old female French Bulldog, where the principal concern was the presence of a structure in the internal region of the genitalia with evolution of approximately 2 months. Upon clinical examination, it was found that the patient had a characteristically female phenotype and a vagina with no apparent changes, despite the presence of a hypertrophied structure inside, similar to a clitoris and a probable penile bone. A right lateral abdominal radiography revealed the presence of a probable atrophied penile bone located inside the vulva. An ultrasound examination showed the presence of two oval, coarse and hypoechogenic structures in the inguinal (subcutaneous) region, suggesting ectopic testicles; ovaries and uterus were not observed. However, during laparotomy the absence of ovaries and the presence of uterus and testicles in the subcutaneous tissue were observed.