45,X/46,XY Mosaicism with Male Phenotype: Case Report

Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.

Molecular and Cellular Mechanisms Underlying Temperature-Dependent Sex Determination in Turtles

The discovery in mammals that fetal testes are required in order to develop the male phenotype inspired research efforts to elucidate the mechanisms underlying gonadal sex determination and differentiation in vertebrates. A pioneer work in 1966 that demonstrated the influence of incubation temperature on sexual phenotype in some reptilian species triggered great interest in the environment’s role as a modulator of plasticity in sex determination. Several chelonian species have been used as animal models to test hypotheses concerning the mechanisms involved in temperature-dependent sex determination (TSD). This brief review intends to outline the history of scientific efforts that corroborate our current understanding of the state-of-the-art in TSD using chelonian species as a reference.

Dräktförändring hos en intersex gräsand Anas platyrhynchos över en sexårsperiod

Intersex individuals with a mixture of female and male plumage traits are reported regularly, but at low frequency. Here we describe the changes in plumage in a Mallard Anas platyrhynchos intersex individual over six years (2015–2020), from a mixed female–male phenotype to a predominantly male phenotype. Already at the first observation, typical male characteristics were present, such as greyish-white tail with two central curved black rectrices and a greenish tinge to parts of the head. The bird attained a more male-like plumage with the next moult and maintained that plumage for the rest of the study period. However, presence of female-patterned body feathers continued until 2019, but in reduced frequency, except for the cheeks and ear-coverts, which displayed a variation in colour. The bill remained female-patterned throughout and the bird did not enter eclipse plumage.

Efficient TALEN-mediated gene knockin at the bovine Y chromosome and generation of a sex-reversal bovine

Functional elucidation of bovine Y-chromosome genes requires available genome editing technologies. Meanwhile, it has yet to be proven whether the bovine Sry gene is the main or single factor involved in the development of the male phenotype in bovine. Here, we efficiently knocked out four Y-linked genes (Sry, ZFY, DDX3Y, and EIF2S3Y) in bovine fetal fibroblasts (BFFs) with transcription activator-like effector nucleases (TALENs) individually. Furthermore, we used TALEN-mediated gene knockin at the Sry gene and generated a sex-reversal bovine by somatic cell nuclear transfer (SCNT). The resulting bovine had only one ovary and was sterile. We demonstrate, for the first time, that the Sry gene is an important sex-determining gene in bovine. Our method lays a solid foundation for detecting the biology of the bovine Y chromosome, as it may provide an alternative biological model system for the study of mammalian sex determination, and new methods for the practical application in agricultural, especially for sex predetermination.

Genome sequencing reveals extraordinary cephalic horns in the Madagascan dung beetle genus Helictopleurus (Coleoptera, Scarabaeinae): insight from a revision of fungicola species group

In this study, we test and corroborate the phylogenetic position of Heterosyphus within Helictopleurus using mitogenomes and nuclear loci. Our recent samplings revealed that males of the former Heterosyphus sicardi Paulian, 1975 (today under Helictopleurus d’Orbigny, 1915) have extraordinary bilateral clypeal horns which are exclusive within the genus. We provide a taxonomic review of the fungicola species group of Helictopleurus and discuss the systematic position of H. sicardi within the group. The male phenotype of H. sicardi is described and photographs of the body and genitalia of the members of the fungicola group are given, as well as a diagnostic key to species of the group. Helictopleurus fungicola peyrierasi is considered to be a distinct species within the genus (H. peyrierasistat. rest.). Helictopleurus pluristriatus d’Orbigny, 1915 syn. nov. is established as a junior synonym of H. fungicola (Fairmaire, 1899).

An investigation into the avoidability of drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome

Purpose Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rising morbidity amongst hospitalized patients. Significant uncertainty remains regarding its exact diagnostic tool. Whilst algorithms for management of index cases have been well established, examination of its potential preventability by utilizing novel “avoidability” tools have remained unexplored.Methods This prospective study is comprised of patients who presented to emergency department of Weill Cornell Medicine-affiliated Hamad General Hospital, Doha Qatar with suspected DRESS syndrome. These cases were comparatively adjudicated and ascertained independently using RegiSCAR, and JSCAR tools by two clinical pharmacists and two General Physicians. They were subsequently rated for potential avoidability utilizing the Liverpool adverse drug reactions avoidability tool (LAAT) by the same team of raters.Results A total of 16 patients satisfy RegiSCAR criteria for DRESS syndrome. The mean age of the study population was 41.5 (SD ± 13.3) years, with a disproportionately male phenotype (n = 12; [75%]). The median latent period from drug ingestion to clinical presentation was 14 days (IQR 6.5, 29). The median RegiSCAR and J-SCAR scores were 6 (IQR 5, 6.8), 5 (IQR 4, 5.8) respectively. Utilizing the LAAT tool, about 60% of the DRESS syndrome-drug pairs were rated as “avoidable” (“probable” or “definite”). The overall Krippendorf’s alpha with the LAAT was 0.81 (SE 0.10, CI 0.59–1.00); with an intraclass correlation coefficient (ICC) of 0.90 (CI 0.77, 0.96.).Conclusion In a randomly selected cohort of DRESS syndrome-drug pairs, the LAAT tool showed a significant proportion that were potentially avoidable (“possibly” and “definitely”). This will need validation by large sample sized prospective studies utilizing the updated LAAT tool proposed by this study.

Early onset androgenic alopecia: not a cosmetic problem but a sign of life time risk factors. Male phenotypic equivalent of polycystic ovarian syndrome: Is There a Male Phenotype of PCOS

Objective: Polycystic ovarian syndrome (PCOS) was thought to be a gynecologic disorder and then accepted as a general endocrine and metabolic syndrome. The genetic component of PCOS seems to be very important in its etiology. Because of this reason there should be a male PCOS equivalent. Early androgenetic alopecia (EAGA) is a specific pattern of hair loss and it should start before age 30 years and it is claimed to be a male equivalent of PCOS in women. Materials and Methods: In this study we aimed to investigate the hormonal and metabolic parameters of men with EAGA and compare them with healthy age-matched controls. Thirty men with EAGA and 30 controls were screened for free testosterone, DHEAS, gonadotropins, 17OH progesterone, ACTH, fasting glucose, fasting insulin, homocysteine and metabolic profile. Homeostasis model assessment (HOMA) results were used for the marker of insulin sensitivity. Alopecia classification was made by using the scale of Hamilton with Norwood modification. Results: Patients with EAGA had higher free testosterone (25,12±3,05 vs 21,3±1,77), DHEAS (634,90±27,09 vs 578±17,82), LH (9,16±0,28 vs 5,13±0,40). The EAGA group had insulin resistance but the control group did not (HOMA results were 3,34±0,47 vs 1,43±0,3). The homocysteine levels of EAGA group were higher than controls (12,37±1,31 vs 9,33±2,12) which is another cardiovascular risk factor. The correlations that we found in our study among HOMA, serum androgen levels, homocysteine and alopecia scores were positive in EAGA patients. We didn’t find any correlations among those parameters in control group. Because of these findings men with EAGA can be considered as male synonym to PCOS syndrome. These young men should be followed for the same long time risk profile like PCOS women. Insulin resistance and its results like metabolic syndrome, diabetes and cardiovascular diseases are real risks but there may be even a risk for infertility. Conclusion: We aimed to investigate whether EAGA can be accepted as the male phenotype of PCOS and if they have elevated risk factors for chronic complications than their age and sex matched controls.

Disorders of Sex Development: Classification, Review, and Impact on Fertility

In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Anomalies in sex determination with sex ambiguity should (usually) include testicular dysgenesis and ovotesticular disorders. Among the anomalies in sex differentiation, we include: (1) males with androgen deficiency (MAD) that correspond to those individuals whose karyotype and gonads are male (XY and testes), but the phenotype can be female due to different hormonal abnormalities. (2) females with androgen excess (FAE); these patients have ovaries and a 46,XX karyotype, but present varying degrees of external genital virilization as a result of an enzyme abnormality that affects adrenal steroid biosynthesis and leads to congenital adrenal hyperplasia; less frequently, this can be caused by iatrogenia or tumors. (3) Kallman syndrome. All of these anomalies are reviewed and analyzed herein, as well as related fertility problems.

Sperm Morphology and Male Age in Black-Throated Blue Warblers, an Ecological Model System

Extra-pair paternity may drive selection on spermatozoa and ejaculate characteristics through sperm competition and cryptic female choice. Here, we examine sperm morphology in the black-throated blue warbler (Setophaga caerulescens), an ecological model species where extra-pair paternity is frequent and is linked with male age. We test whether sperm morphology relates to several aspects of male phenotype known or suspected to affect extra-pair paternity success. Sperm morphology did not correlate with the size of the white wing spot, a social status signal, nor with the volume of the cloacal protuberance. However, older males tended to have longer sperm cells. Although the sample size was limited, this pattern is intriguing, as longer cells may be advantageous in post-copulatory sexual selection and older males have larger testes and higher extra-pair paternity success in this species. Changes in sperm morphology with age are not observed in other birds, though they have been observed in insects and fishes. More research on sperm morphology is needed to clarify its role in extra-pair fertilizations in this well-studied species.