Sexual DevelopmentPub Date : 2026-01-01Epub Date: 2026-08-04DOI: 10.1159/sxd/aerag002
Mariela Urrutia, Franco G Brunello, Lorena Minaberry, Gabriela Sansó, Lourdes Correa Brito, Romina P Grinspon, Marcelo Martí, Rodolfo A Rey
{"title":"Double Heterozygous PROK2 p.(Ile55Ter)-PROKR2 p.(Arg85Leu) Variants: Case Report of an Oligogenic Case of Congenital Hypogonadotropic Hypogonadism with Anosmia.","authors":"Mariela Urrutia, Franco G Brunello, Lorena Minaberry, Gabriela Sansó, Lourdes Correa Brito, Romina P Grinspon, Marcelo Martí, Rodolfo A Rey","doi":"10.1159/sxd/aerag002","DOIUrl":"10.1159/sxd/aerag002","url":null,"abstract":"<p><strong>Introduction: </strong>Delayed puberty in males requires differentiation between self-limited delay and congenital hypogonadotropic hypogonadism (CHH), including Kallmann syndrome (KS).</p><p><strong>Case presentation: </strong>We report an adolescent male presenting with delayed puberty and anosmia, consistent with KS. Hormonal evaluation confirmed CHH, and MRI demonstrated olfactory bulb agenesis. Targeted next-generation sequencing identified two heterozygous variants in functionally related genes: a pathogenic nonsense variant in PROK2 and a missense variant in PROKR2 classified as a variant of uncertain significance. Given their ligand-receptor relationship, oligogenic analysis was performed. The variant combination was prioritized as highly likely disease-causing by ORVAL/VarCoPP and further supported by OLIDA-based interpretation, providing objective evidence for digenic inheritance. Parental segregation confirmed trans inheritance.</p><p><strong>Conclusion: </strong>To our knowledge, this is the first report with objective support for the high likelihood of the existence of a digenic etiology in a patient with CHH, based on the use of OLIDA, which provides a standardized framework for the interpretation of oligogenic combinations. These findings highlight the contribution of multilocus variation to CHH and underscore the need for standardized approaches to interpret oligogenic mechanisms in clinical practice.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"151-158"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148680912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sexual DevelopmentPub Date : 2026-01-01Epub Date: 2026-01-10DOI: 10.1159/000549398
Imane Cherkaoui, Saida Lhousni, Manal Elidrissi Errahhali, Majida Charif, Rim Amrani, Aziza Elouali, Sanae Allaoui, Mounia Elidrissi Errahhali, Meryem Ouarzane, Guy Lenaers, Adnane Sellam, Mohammed Bellaoui, Redouane Boulouiz
{"title":"Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients.","authors":"Imane Cherkaoui, Saida Lhousni, Manal Elidrissi Errahhali, Majida Charif, Rim Amrani, Aziza Elouali, Sanae Allaoui, Mounia Elidrissi Errahhali, Meryem Ouarzane, Guy Lenaers, Adnane Sellam, Mohammed Bellaoui, Redouane Boulouiz","doi":"10.1159/000549398","DOIUrl":"10.1159/000549398","url":null,"abstract":"<p><strong>Introduction: </strong>46,XY differences of sex development (DSD) are conditions with extreme phenotypic and genetic heterogeneity. Therefore, their diagnosis remains a major challenge for both clinicians and geneticists. In this study, we aimed to identify the underlying genetic causes of DSD in a series of 3 Moroccan patients with syndromic 46,XY DSD recruited in the BRO Biobank.</p><p><strong>Case presentations: </strong>Methods: Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. SRY gene was analyzed using PCR amplification followed by Sanger sequencing. Whole exome sequencing (WES) was performed after unsuccessful conventional genetic analyses. Candidate variants were evaluated by segregation analysis and molecular modeling.</p><p><strong>Results: </strong>WES identified three pathogenic variants in genes encoding various components of the epigenetic machinery: in patient 1, a novel heterozygous frameshift variant c.4072dup (p.Glu1358GlyfsTer29) in the KAT6B gene associated with two clinically distinct syndromes (genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome) was detected; in patient 2, we identified a previously reported de novo heterozygous nonsense variant c.12943C>T (p.Gln4315Ter) in KMT2D responsible for Kabuki syndrome; in patient 3, WES revealed a novel heterozygous missense variant c.4056C>G (p.Phe1352Leu) in CHD7 responsible for CHARGE syndrome. We discuss the genotype-phenotype correlation in these syndromic 46,XY DSD and discuss the relevance of the epigenetic genes in sexual development.</p><p><strong>Conclusion: </strong>Our findings highlight the utility of WES in discriminating clinically overlapping syndromic 46,XY DSD to provide an accurate diagnosis, thus allowing better follow-up and appropriate patient management. In addition, our study enriched the mutational spectrum of syndromic 46,XY DSD and confirmed the genotype-phenotype correlations.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"20 1-6","pages":"26-35"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146159046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.","authors":"Sukran Poyrazoglu, Agharza Aghayev, Guven Toksoy, Birsen Karaman, Ayca Dilruba Aslanger, Sahin Avci, Umut Altunoglu, Volkan Karaman, Melek Yildiz, Zehra Yavas Abali, Firdevs Bas, Seher Basaran, Feyza Darendeliler, Zehra Oya Uyguner","doi":"10.1159/000550371","DOIUrl":"10.1159/000550371","url":null,"abstract":"<p><strong>Background: </strong>The management of 46,XY disorders of sex development (DSD) is challenging due to genetic heterogeneity and phenotypic variability. This study aimed to characterize the clinical and genetic findings in patients with 46,XY DSD, using a targeted next-generation sequencing (NGS) panel for molecular evaluation.</p><p><strong>Methods: </strong>A targeted DSD gene panel covering 31 genes was applied in 112 patients with nonsyndromic 46,XY DSD. Forty-six patients had previously tested negative for AR and SRD5A2 by Sanger sequencing. Patients were clinically categorized into disorders of gonadal development, androgen synthesis or action. Variant classification was performed according to the ACMG criteria.</p><p><strong>Results: </strong>Among the 38 variants detected, 32 were pathogenic or likely pathogenic. Nineteen (50%) variants were novel. A molecular diagnosis was established in 31 (27.7%) patients and inclusion of previously diagnosed cases would have increased the overall diagnostic yield to 43.8%. The HSD17B3 variants were the most common, followed by NR5A1 and LHCGR. In 8 patients, the genetic findings led to reclassification of their clinical diagnosis, particularly in those initially suspected to have a disorder of androgen action.</p><p><strong>Conclusion: </strong>NGS is a valuable diagnostic tool in the evaluation of 46,XY DSD, offering improved diagnostic yield. For patients without molecular diagnosis, more comprehensive genomic analyses, including noncoding regions, are required.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"15-25"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12890263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sexual DevelopmentPub Date : 2026-01-01Epub Date: 2026-02-26DOI: 10.1159/000551056
Sofia Suco, Patricia Bedecarrás, María Gabriela Ballerini, María Gabriela Ropelato, Débora Braslavsky, María Eugenia Rodriguez, Ana Keselman, Rodolfo A Rey, Romina P Grinspon
{"title":"Testicular Volume of 4 mL Is Not an Appropriate Marker of Pubertal Onset in a Subset of Boys Born Small for Gestational Age.","authors":"Sofia Suco, Patricia Bedecarrás, María Gabriela Ballerini, María Gabriela Ropelato, Débora Braslavsky, María Eugenia Rodriguez, Ana Keselman, Rodolfo A Rey, Romina P Grinspon","doi":"10.1159/000551056","DOIUrl":"10.1159/000551056","url":null,"abstract":"<p><strong>Introduction: </strong>Considering that testicular volume (TV) is probably not an adequate marker of pubertal onset in boys born small for gestational age (SGA), we aimed to describe the progression of pubertal clinical and biochemical characteristics, comparing the trajectory of TV with other parameters as markers of pubertal onset in boys born SGA.</p><p><strong>Methods: </strong>We performed a retrospective, descriptive study of a cohort of boys born SGA with longitudinal follow-up. We determined the TV at the time when serum AMH decreased ≥30% or LH attained 0.35 IU/L.</p><p><strong>Results: </strong>Thirty boys born SGA were included: 16 of 30 (53.3%) had LH ≥0.35 IU/L and 7 of 24 boys (29.2%) had a decline ≥30% in serum AMH with a TV <4 mL. LH ≥0.35 IU/L and AMH decrease ≥30% were observed at least 1 year before TV 4-5 mL in 11 of 22 (50%) and 3 of 19 (15.8%) boys, respectively. During follow-up, higher serum LH, FSH, and testosterone and lower AMH levels than those expected for TV were observed, indicating that some boys born SGA have a more advanced stage of puberty than their TV suggests.</p><p><strong>Conclusion: </strong>We identified a subgroup of boys born SGA in whom hormonal changes typical of initial puberty (serum LH ≥0.35 IU/L and AMH decline ≥30%) occurred before a clinical diagnosis of pubertal onset (TV ≥4 mL) was evident. These results indicate that TV 4 mL is not a reliable clinical sign of pubertal onset in all boys born SGA and that other biomarkers, such as serum LH and AMH, may need to be assessed.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"58-67"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13095185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147311978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sexual DevelopmentPub Date : 2026-01-01Epub Date: 2026-08-28DOI: 10.1159/sxd/aerag003
Maria Ogielska, Beata Rozenblut-Kościsty, Katarzyna Haczkiewicz-Leśniak, Magdalena Chmielewska
{"title":"Somatic Cells in the Anuran Testis.","authors":"Maria Ogielska, Beata Rozenblut-Kościsty, Katarzyna Haczkiewicz-Leśniak, Magdalena Chmielewska","doi":"10.1159/sxd/aerag003","DOIUrl":"10.1159/sxd/aerag003","url":null,"abstract":"<p><strong>Background: </strong>The anuran testis is a heterogeneous organ composed of germline and somatic cells mainly derived from the coelomic epithelium (Sertoli cells) and mesonephros (Leydig cells), which together regulate spermatogenesis and testicular architecture.</p><p><strong>Summary: </strong>We provide an integrative overview of the developmental origin, structure, and function of somatic cells in evolutionary primitive and advanced anurans, with comparisons to other vertebrates. Initially, bipotential gonad differentiates into testes by forming seminiferous cords and tubules composed of gonocytes and Sertoli cells, and a peritubular compartment containing Leydig cells. A distinctive feature of anurans is the continued proliferative capacity of Sertoli cells and their ability to form cysts in which spermatogenesis occurs within adult seminiferous tubules. Although key genes involved in testis differentiation are broadly conserved across vertebrates, their timing and functional roles often differ in anurans, where gonadal development is strongly influenced by steroid hormones, a feature typical of anamniotes.</p><p><strong>Key messages: </strong>Vertebrate testes are homologous and share a basic organizational plan, differing mainly in cystic spermatogenesis in anamniotes versus tubular spermatogenesis in amniotes. While somatic cell lineages are largely conserved, anurans exhibit increased complexity in molecular regulatory pathways and remain understudied with respect to the developmental origins of specific cell populations.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"129-150"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148851950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sexual DevelopmentPub Date : 2026-01-01Epub Date: 2026-02-04DOI: 10.1159/000550026
{"title":"Erratum.","authors":"","doi":"10.1159/000550026","DOIUrl":"10.1159/000550026","url":null,"abstract":"<p><p>In the article \"Sexual Dimorphic Expression of Dmrt1 in Adult Japanese Gecko (Gekko japonicus)\" [Sex Dev. 2025;19(1-6):39-50; https://doi.org/10.1159/000548987] by Ping et al., the 1st author's name should correctly read \"Jun Ping.\"</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"20 1-6","pages":"14"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146120788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evidence for <italic>sult1st6y</italic> as a Major Candidate Sex-Determining Gene in Pacific Bluefin Tuna.","authors":"Takao Hayashida, Satoshi Soma, Yukinori Kazeto, Yoji Nakamura","doi":"10.1159/000549624","DOIUrl":"10.1159/000549624","url":null,"abstract":"<p><strong>Introduction: </strong>The Y chromosome-linked gene sult1st6y (a homolog of the estrogen sulfotransferase gene) has recently been identified in Thunnus, a genus characterized by an XX/XY sex determination system. This study examined whether sult1st6y is a sex-determining gene in bluefin tuna (Thunnus orientalis).</p><p><strong>Methods: </strong>The expression of sult1st6y was examined using polymerase chain reaction analyses and in situ hybridization. Sult1st6y expression in masculinized XX testes produced by aromatase inhibitor administration and the expression profile of the sult1st6y mutant, which was produced using CRISPR/Cas9, were examined.</p><p><strong>Results: </strong>Sult1st6y was specifically expressed in XY gonads during sex differentiation. The onset of sult1st6y expression preceded that of other genes promoting sex differentiation. Sult1st6y expression was not detected in masculinized XX testes, indicating that gonads can differentiate into testes without sult1st6y if estrogens are depleted. The Sult1st6y mutant XY gonad showed a gene expression pattern similar to that of wild-type XX gonads.</p><p><strong>Conclusion: </strong>Our results collectively suggest that sult1st6y is at the top of the molecular cascade that regulates gonadal sex differentiation. Sult1st6y may trigger testicular differentiation by deactivating estrogens, although its biochemical activity should be examined. This study provides evidence that sult1st6y is a major candidate sex-determining gene in tuna.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-13"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12755888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sexual DevelopmentPub Date : 2026-01-01Epub Date: 2026-04-28DOI: 10.1159/000551594
Júlia Lima-Santos, Carolina Gama Nascimento-Vidoti, Gabriela Roldão Correia-Costa, Nilma Lúcia Viguetti Campos, Mara Sanches Guaragna, Flávia Marcorin de Oliveira, Beatriz Amstalden Barros, Marcio Lopes Miranda, Arthur Antolini Tavares, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra, Helena Fabbri-Scallet, Társis Paiva Vieira
{"title":"Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.","authors":"Júlia Lima-Santos, Carolina Gama Nascimento-Vidoti, Gabriela Roldão Correia-Costa, Nilma Lúcia Viguetti Campos, Mara Sanches Guaragna, Flávia Marcorin de Oliveira, Beatriz Amstalden Barros, Marcio Lopes Miranda, Arthur Antolini Tavares, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra, Helena Fabbri-Scallet, Társis Paiva Vieira","doi":"10.1159/000551594","DOIUrl":"10.1159/000551594","url":null,"abstract":"<p><strong>Introduction: </strong>Ovotesticular difference of sex development (OT-DSD) may result from chimerism, mosaicism, structural, or sequence variants. However, even after investigating all known causes, many individuals still lack an established etiology. This study aimed to perform cytogenomic investigation of individuals with OT-DSD.</p><p><strong>Methods: </strong>The sample consisted of 15 individuals with OT-DSD. Methods included G-banding karyotype, chromosomal microarray analysis (CMA), optical genome mapping (OGM), and whole-genome sequencing (WGS).</p><p><strong>Results: </strong>G-banding karyotype revealed chimerism in two individuals, mosaicism in one, and 47,XXY karyotype in another. One individual had a pericentric inversion at the X chromosome, with breakpoints mapped close to SOX3. Ten individuals had a normal karyotype, eight 46,XX, and two 46,XY. CMA, performed in 11, identified a duplication including the SOX3 gene in one 46,XX individual, and two duplications in a 46,XY individual, with breakpoints mapped by WGS, suggesting a complex rearrangement that could affect VAMP7 expression. OGM was performed in two individuals and WGS in nine individuals, which did not reveal additional relevant structural variants (SVs).</p><p><strong>Conclusion: </strong>Cytogenomic methods identified causative alterations in 5/15 (33.3%) individuals, underscoring the need to combine complementary approaches to detect and characterize SVs. In the remaining cases, the etiology was undetermined, emphasizing the need for further molecular investigations.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"82-94"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13275052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147787299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sexual DevelopmentPub Date : 2026-01-01Epub Date: 2026-04-10DOI: 10.1159/000551880
Maciej Zacharski, Katarzyna Pieczka, Stanisław Dzimira
{"title":"A Case of Disorder of Sex Development in Red Deer (<italic>Cervus elaphus</italic>).","authors":"Maciej Zacharski, Katarzyna Pieczka, Stanisław Dzimira","doi":"10.1159/000551880","DOIUrl":"10.1159/000551880","url":null,"abstract":"<p><strong>Introduction: </strong>Disorders of sex development (DSDs) are rare in free-ranging cervids and remain poorly documented.</p><p><strong>Case presentation: </strong>We describe a hunted red deer (Cervus elaphus) with well-developed antlers and male-typical morphology but female-like external genitalia, characterized by a hypertrophic clitoris/penile-like protrusion and absence of a scrotum. External genital tissues were available for histopathology, which revealed penile-type structures, including cavernous tissue and urethral-like epithelium. Genetic sex was assessed using PCR amplification of SRY and ZFX/ZFY markers from formalin-fixed, paraffin-embedded (FFPE) material. Due to the degraded DNA, we redesigned ZFY primers to yield a short amplicon suitable for compromised templates. PCR positivity for SRY and ZFY indicated the presence of Y-linked sequences. However, in the absence of internal reproductive organs, karyotyping and hormonal analyses, the etiology and DSD category cannot be determined, and chromosomal mosaicism or other Y-chromosome anomalies cannot be excluded.</p><p><strong>Conclusion: </strong>This report documents an unusual phenotype in a free-ranging red deer and provides a practical short amplicon ZFY assay for sex marker detection in degraded samples. Both genetic and environmental causes of DSD were considered; however, no definitive etiology could be established.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"75-81"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13271682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147655190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Karel Kleisner, Petra Frýdlová, Hassan Sh Abdirahman Elmi, Mukhtar Abdi Omar, Abdirahman Ahmed Muhumed, Jitka Jančúchová Lásková, Samatar Abshir Mahamed, Solomon Yared, Elyas Abdulahi, Šimon Pokorný, David Král, Daniel Alex Berti, Viktor Černý, Daniel Frynta
{"title":"Sexual Dimorphism in Facial Morphology and Skin Color in the Horn of Africa.","authors":"Karel Kleisner, Petra Frýdlová, Hassan Sh Abdirahman Elmi, Mukhtar Abdi Omar, Abdirahman Ahmed Muhumed, Jitka Jančúchová Lásková, Samatar Abshir Mahamed, Solomon Yared, Elyas Abdulahi, Šimon Pokorný, David Král, Daniel Alex Berti, Viktor Černý, Daniel Frynta","doi":"10.1159/000549901","DOIUrl":"10.1159/000549901","url":null,"abstract":"<p><strong>Introduction: </strong>Previous research has shown substantial variation in sexual dimorphism of facial structure and skin color across human populations. This study investigates sexual dimorphism in both facial shape and skin color in understudied populations from the Horn of Africa - Somalis and Ethiopians - focusing on the relationship between facial morphology and pigmentation traits.</p><p><strong>Methods: </strong>Standardized frontal and profile photographs were collected from participants and analyzed using geometric morphometrics. Sexual shape dimorphism (SShD) was calculated by projecting each individual's facial shape onto a vector connecting average male and female shapes in Procrustes-aligned morphospace; higher values indicate more masculine morphology. Sexual color dimorphism (SCoD) was computed similarly, by projecting individual skin color values (from forehead and cheeks) onto a vector defined by average male-female difference in the CIE Lab* color space. Trajectory analysis and Bayesian hierarchical modelling were performed to examine associations between SShD and SCoD.</p><p><strong>Results: </strong>Significant sexual dimorphism was detected in both facial shape and skin color across both populations. Male faces tended to be more robust and darker, while female faces were more gracile and lighter-skinned. However, despite group-level sex differences, individual-level associations between facial structure and skin pigmentation were weak or absent. Somali participants exhibited greater dimorphism in skin color compared to Ethiopians, while facial shape dimorphism remained consistent between groups.</p><p><strong>Conclusion: </strong>Both target populations revealed significant sexual dimorphism in both structural and pigmentation facial traits. However, in contrast to previous findings reported in certain West African populations, we found no statistically reliable association between these two traits at the individual level. This decoupling may indicate distinct evolutionary or ecological pressures shaping morphological and pigmentation traits. Our findings suggest that no universal trade-off or consistent relationship exists between morphological and pigmentation components of sexual dimorphism across human populations.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-21"},"PeriodicalIF":2.4,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145702711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}