A young infant with complete androgen insensitivity syndrome

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked recessive disorder resulting from maternally inherited or de novo mutations involving the androgen receptor (AR) gene. The AR is a vital steroid hormone receptor that has a critical role in male sexual differentiation and development and preservation of the male phenotype. The diagnosis of CAIS is based on the presence of female external genitalia in an individual with 46, XY karyotype having normally developed but undescended testes and target tissue unresponsiveness to androgen. Our case presented at the age of 2 months with asymmetric labia majora with bilateral labial mass. Ultrasonography revealed absence of female internal genital organs and presence of testes at labial folds. The child was found to have 46, XY karyotype. BIRDEM Med J 2022; 12(1): 74-77

Characterization of Female External Genitalia and Eggs of Four South American Species of the Triatoma Laporte, 1832 Genus (Hemiptera: Reduviidae: Triatominae)

Triatoma is the most diversified and one of the most important genera from an epidemiological perspective. Given the difficulty in identifying some species of the Triatoma genus, morphological, histological, and morphometric studies were performed to provide new characters that make it possible to differentiate T. garciabesi, T. guasayana, T. patagonica, and T. sordida sensu stricto, triatomines that overlap geographically and have vector potential. Through the external female genitalia, as well as morphology, morphometry, and histology of eggshells, it was possible to discriminate the four species. In addition, this study reinforces the taxonomic validity of T. garciabesi and provides new data for discussion on systematic issues of T. guasayana and T. patagonica.

46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

Two new species of the genus Oryctopterus (Orthoptera: Stenopelmatidae: Oryctopinae) from India, with some notes on biology

The genus Oryctopterus Karny, 1937 (Orthoptera, Stenopelmatidae, Oryctopinae) is reported from India for the first time and two new species, Ot. varuna sp. nov. and Ot. yeshwanthi sp. nov. are described. Male and female external genitalia of Ot. varuna sp. nov. and female genitalia of Ot. yeshwanthi sp. nov. are figured and described. Notes on seasonality, food habits and behavior of Ot. varuna sp. nov. are provided.

Description of a new species of Dinidor Latreille (Hemiptera: Dinidoridae) from the Brazilian Amazon Rainforest, and new records of D. saucius Stål

Dinidor jograziae sp. nov., is described. The new species can be recognized by the relatively shorter mandibular plates which do not come in contact with each other anterior to the clypeus, by the dark brown hemelytral membranes, with darker, reticulate veins, and by having a relatively large portion of the connexiva exposed. We provide high-resolution photographs of important characters such as the head, pronotum, and the male and female external genitalia. We also provide new locality records for D. saucius from southern and southeastern Brazil, including the Atlantic Rain Forest region in the states of Rio de Janeiro, Santa Catarina and São Paulo.

Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report

Background Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce. Case A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was comparable to an adult male reference. As a result, cfDNA testing was only informative for autosomes. Routine 20-week ultrasound scan showed no structural alterations and the presence of female external genitalia. Post-clinical research revealed that the patient received a bone marrow transplant from a male donor several years before. Fluorescence in situ hybridization showed that 100% of nuclei analysed from the patient’s lymphocytes presented a ChrY. Conclusion This case demonstrates ChrY can be used as a marker to avoid sex discrepancies in certain patients with organ transplants.

Chromosome Y as A Marker for Sex Discrepancies in Patients With Organ Transplants: A Case Report

Background: Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce.Case: A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was comparable to an adult male reference. As a result, cfDNA testing was only informative for autosomes. Routine 20-week ultrasound scan showed no structural alterations and the presence of female external genitalia. Post-clinical research revealed that the patient received a bone marrow transplant from a male donor several years before. Fluorescence in situ hybridization showed that 100% of nuclei analysed from the patient’s lymphocytes presented a ChrY.Conclusion: This case demonstrates ChrY can be used as a marker to avoid sex discrepancies in certain patients with organ transplants.