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1.
Cureus ; 16(7): e65856, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39219924

ABSTRACT

Klinefelter syndrome (KS) is a common chromosomal abnormality in males, usually presenting as a 47,XXY karyotype and often underdiagnosed. Rarely, KS occurs as mosaic 46,XX/47,XXY. At the same time, ovotesticular disorder of sex development (OT-DSD) is also a rare condition in which both ovarian and testicular structures are present in the same individual, often associated with a 46,XX karyotype. The combination of mosaic 46,XX/47,XXY with OT-DSD is scarce. Herein, we report a new case of a six-month-old infant with unilateral OT-DSD and a 46,XX/47,XXY mosaic karyotype who presented with atypical genitalia at birth. On examination, the external genitalia showed asymmetry of the labioscrotal folds, an empty right fold, a 2.5 cm phallic structure, and a perineal urethral meatus. Imaging studies revealed a uterus and a vaginal cavity, as well as an ovotestis on the left side and an ovarian remnant on the right side. An unexpected increase in testosterone level was observed. Cytogenetics analysis confirmed a mosaic karyotype with 54% of 46,XX and 46% 47,XXY cells. Molecular genetic analysis revealed no mutations in the genes involved in gonadal development. These findings are discussed and the clinical characteristics of the reported cases of 46,XX/47,XXY with OT-DSD are summarized. In conclusion, atypical genitalia leads to the early diagnosis of the rare 46,XX/47,XXY mosaicism with OT-DSD. Mosaicism should be considered in all cryptorchidism cases. Persistent Müllerian structures were common, and the nearly male phenotype of the external genitalia led parents to prefer the male sex of rearing.

2.
Int. braz. j. urol ; 50(4): 433-449, July-Aug. 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1569224

ABSTRACT

ABSTRACT Purpose Varicocele is a condition known to cause damage to seminal parameters and sperm function. Furthermore, it has been hypothesized that the varicocele effect on fertility is time-dependent; however, little is known about the consequences of its establishment time on reproductive organs and/or sperm function. This study aimed to evaluate the effect of the duration of experimental varicocele on reproductive organs, sperm parameters, and sperm function. Materials and Methods Varicocele induction surgeries were performed in Wistar rats aged 40 or 100 days old. At 160-day-old, analyses were performed, including biometry of reproductive organs (prostate, seminal vesicles, epididymis, and testis), sperm parameters (vitality, morphology, and motility), and sperm function tests (nuclear DNA integrity, acrosome integrity, and mitochondrial activity). Results The analysis of the biometry of reproductive organs showed no differences between distinct ages in which varicocele was induced. The total abnormal sperm morphology was bigger in animals with varicocele induced to 100 days old than in animals with varicocele induced to 40 days old. Regarding nuclear DNA integrity, animals of varicocele induced to 100 days old showed worse results compared to animals of varicocele induced to 40 days old. Other parameters analyzed showed no differences between varicocele groups. Conclusion In this study conducted on rats, we conclude that varicocele adversely affects sperm, particularly its function. However, we did not observe a negative progressive effect on sperm.

3.
Insects ; 15(8)2024 Aug 11.
Article in English | MEDLINE | ID: mdl-39194810

ABSTRACT

Morphometric analyses of male genitalia are routinely used to distinguish genera and species in beetles, butterflies, and flies, but are rarely used in ants, where most morphometric analyses focus on the external morphology of the worker caste. In this work, we performed linear morphometric analysis of the male genitalia to distinguish Monomorium and Syllophopsis in Madagascar. For 80 specimens, we measured 10 morphometric characters, especially on the paramere, volsella, and penisvalvae. Three datasets were made from linear measurements: mean (raw data), the ratios of characters (ratio data), and the Removal of Allometric Variance (RAV data). The following quantitative methods were applied to these datasets: hierarchical clustering (Ward's method), unconstrained ordination methods including Principal Component Analysis (PCA), Non-Metric Multidimensional Scaling analyses (NMDS), Linear Discriminant Analysis (LDA), and Conditional Inference Trees (CITs). The results from statistical analysis show that the ratios proved to be the most effective approach for genus-level differentiation. However, the RAV method exhibited overlap between the genera. Meanwhile, the raw data facilitated more nuanced distinctions at the species level compared with the ratios and RAV approaches. The CITs revealed that the ratios of denticle length of the valviceps (SeL) to the paramere height (PaH) effectively distinguished between genera and identified key variables for species-level differentiation. Overall, this study shows that linear morphometric analysis of male genitalia is a useful data source for taxonomic delimitation.

4.
J Pediatr Endocrinol Metab ; 37(9): 811-819, 2024 Sep 25.
Article in English | MEDLINE | ID: mdl-39099554

ABSTRACT

OBJECTIVES: To generate normative data and validate the recently developed, gender-neutral, External Genitalia Score (EGS) in Indian preterm and term neonates and children up to 2 years of age with normal and atypical genitalia. METHODS: This observational study included 1,040 neonates born between 28 and 42 weeks of gestation and 152 children between 1 and 24 months of age. In addition, 50 children with disorders of sex development (DSD) were also enrolled in the study. The Prader stage/external masculinization score (EMS) (as applicable), anogenital ratio (AGR) and EGS were assessed for all neonates and children with typical and atypical genitalia. RESULTS: Median EGS values in newborn males with typical genitalia were 9.5 at 28-31 weeks, 10.5 at 32-33 weeks, 11 at 34 weeks and 11.5 in males at 35-42 weeks of gestation. For all females with typical genitalia, the EGS was 0. EMS and EGS showed a positive correlation in males with typical genitalia (r=0.421, p=0.000**) and all children with DSD (r=0.857, p=0.000**). Mean AGR in males and females with typical genitalia and those with DSD were 0.52±0.07, 0.31±0.05 and 0.47±0.13, respectively. EGS correlated with AGR in all males with typical genitalia (r=0.107, p=0.008**), and in all children with DSD (r=0.473, p=0.001**). CONCLUSIONS: The EGS enables accurate, gender-neutral and comprehensive assessment of external genitalia in Indian neonates and children with typical and atypical genitalia/DSD. Evaluation for DSD is recommended in any child with EGS greater than 0 and ≤10th percentile for gestation or age (10.5 in a term neonate).


Subject(s)
Disorders of Sex Development , Humans , Male , Infant, Newborn , Female , Infant , India , Disorders of Sex Development/diagnosis , Child, Preschool , Genitalia , Gestational Age , Genitalia, Male/growth & development , Genitalia, Male/anatomy & histology , Follow-Up Studies , Reference Values , Infant, Premature , Prognosis
5.
Mol Phylogenet Evol ; 200: 108185, 2024 Nov.
Article in English | MEDLINE | ID: mdl-39209047

ABSTRACT

Petaluridae (Odonata: Anisoptera) is a relict dragonfly family, having diverged from its sister family in the Jurassic, of eleven species that are notable among odonates (dragonflies and damselflies) for their exclusive use of fen and bog habitats, their burrowing behavior as nymphs, large body size as adults, and extended lifespans. To date, several nodes within this family remain unresolved, limiting the study of the evolution of this peculiar family. Using an anchored hybrid enrichment dataset of over 900 loci we reconstructed the species tree of Petaluridae. To estimate the temporal origin of the genera within this family, we used a set of well-vetted fossils and a relaxed molecular clock model in a divergence time estimation analysis. We estimate that Petaluridae originated in the early Cretaceous and confirm the existence of monophyletic Gondwanan and Laurasian clades within the family. Our relaxed molecular clock analysis estimated that these clades diverged from their MRCA approximately 160 mya. Extant lineages within this family were identified to have persisted from 6 (Uropetala) to 120 million years (Phenes). Our biogeographical analyses focusing on a set of key regions suggest that divergence within Petaluridae is largely correlated with continental drift, the exposure of land bridges, and the development of mountain ranges. Our results support the hypothesis that species within Petaluridae have persisted for tens of millions of years, with little fossil evidence to suggest widespread extinction in the family, despite optimal conditions for the fossilization of nymphs. Petaluridae appear to be a rare example of habitat specialists that have persisted for tens of millions of years.


Subject(s)
Fossils , Odonata , Phylogeny , Animals , Odonata/genetics , Odonata/classification , Extinction, Biological , Models, Genetic , Bayes Theorem , Sequence Analysis, DNA , Evolution, Molecular
6.
Genes (Basel) ; 15(8)2024 Aug 05.
Article in English | MEDLINE | ID: mdl-39202391

ABSTRACT

Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker-Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic. Clinical assessment of a progressive neurological disorder of unknown aetiology found a macrocephalic head and markedly hypoplastic genitalia with a micropenis. Neurological examination showed generalized hypotonia with very rare spontaneous movements, hypotonia-induced respiratory insufficiency and ventilator dependence, and generalized myoclonus intensifying during manipulation. With clinical features of hypotonia, lissencephaly, and brain malformations, Walker-Warburg Syndrome was suspected; however, eye anomalies were absent. Genetic trio analysis via whole-exome sequencing only identified a novel de novo mutation in the TUBA1A gene (NM_006009.4:c.848A>G; NP_006000.2:p.His283Arg) in the infant, who died at 2 months of age, as the likely cause. We report a previously unpublished, very rare heterozygous TUBA1A mutation with clinical features of macrocephaly and hypoplastic genitalia which have not previously been associated with the gene. The absence of eye phenotypes or mutations in Walker-Warburg-associated genes confirm this as not a new presentation of Walker-Warburg Syndrome but a novel TUBA1A tubulinopathy for neonatologists to be aware of.


Subject(s)
Tubulin , Walker-Warburg Syndrome , Humans , Tubulin/genetics , Walker-Warburg Syndrome/genetics , Walker-Warburg Syndrome/pathology , Female , Infant, Newborn , Infant , Mutation , Exome Sequencing , Male , Croatia , Fatal Outcome
7.
J Morphol ; 285(9): e21757, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39192511

ABSTRACT

The male genitalia of insects are among the most variable, complex, and informative character systems for evolutionary analysis and taxonomic purposes. Because of these general properties, many generations of systematists have struggled to develop a theory of homology and alignment of parts. This struggle continues to the present day, where fundamentally different models and nomenclatures for the male genitalia of Hymenoptera, for example, are applied. Here, we take a multimodal approach to digitalize and comprehensively document the genital skeletomuscular anatomy of the bullet ant (Paraponera clavata; Hymenoptera: Formicidae), including hand dissection, synchrotron radiation microcomputed tomography, microphotography, scanning electron microscopy, confocal laser scanning microscopy, and 3D-printing. Through this work, we generate several new concepts for the structure and form of the male genitalia of Hymenoptera, such as for the endophallic sclerite (=fibula ducti), which we were able to evaluate in detail for the first time for any species. Based on this phenomic anatomical study and comparison with other Holometabola and Hexapoda, we reconsider the homologies of insect genitalia more broadly, and propose a series of clarifications in support of the penis-gonopod theory of male genital identity. Specifically, we use the male genitalia of Paraponera and insects more broadly as an empirical case for hierarchical homology by applying and refining the 5-category classification of serial homologs from DiFrisco et al. (2023) (DLW23) to all of our formalized concepts. Through this, we find that: (1) geometry is a critical attribute to account for in ontology, especially as all individually identifiable attributes are positionally indexed hence can be recognized as homomorphic; (2) the definition of "structure" proposed by DLW23 is difficult to apply, and likely heterogeneous; and (3) formative elements, or spatially defined foldings or in- or evaginations of the epidermis and cuticle, are an important yet overlooked class of homomorphs. We propose a morphogenetic model for male and female insect genitalia, and a model analogous to gene-tree species-tree mappings for the hierarchical homology of male genitalia specifically. For all of the structures evaluated in the present study, we provide 3D-printable models - with and without musculature, and in various states of digital dissection - to facilitate the development of a tactile understanding. Our treatment of the male genitalia of P. clavata serves as a basic template for future phenomic studies of male insect genitalia, which will be substantially improved with the development of automation and collections-based data processing pipelines, that is, collectomics. The Hymenoptera Anatomy Ontology will be a critical resource to include in this effort, and in best practice concepts should be linked.


Subject(s)
Ants , Genitalia, Male , Animals , Male , Genitalia, Male/anatomy & histology , Ants/anatomy & histology , X-Ray Microtomography , Microscopy, Electron, Scanning , Biological Evolution
8.
Cureus ; 16(6): e62977, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39044897

ABSTRACT

We present a case report of a 55-year-old male patient with congenital adrenal hyperplasia (CAH) and a large neoplastic mass in the abdomen. The patient presented with an abdominal mass and discomfort, along with a bilateral empty scrotum since birth. A diagnostic workup revealed the mass to be a uterine leiomyoma associated with CAH, a simple virilizing type. Treatment involved an exploratory laparotomy and excision of the mass, including the removal of the entire uterus. Complete removal of the mass and uterus was ensured. The patient's response to treatment was satisfactory. This case highlights how pre-operative and post-operative diagnoses can vary, along with the importance of early diagnosis of CAH and disorders of sexual differentiation (DSD), emphasizing the significance of unusual presentations and resultant complications, as they might go unnoticed. CAH in XX females may have unusual presentations, such as short stature and a male phenotype (Prader 5). The patient exhibited a normal pattern of male sexual function. This condition might go unnoticed, resulting in leiomyoma, adrenal tumors, prostate tumors if prostate tissue is present, and so on. Healthcare providers must watch out for such rare presentations.

9.
Top Companion Anim Med ; 61: 100887, 2024.
Article in English | MEDLINE | ID: mdl-38964542

ABSTRACT

Fifteen male dogs with squamous cell carcinoma of the external genitalia were admitted for further investigation and surgical management between 1994 and 2020. The dogs belonged to various breeds. Thirteen dogs were intact and two were castrated with a median age of 8 years and a median weight of 28 kg. Seven dogs were white-coated and eight nonwhite coated. Scrotal ablation and orchiectomy were performed in four dogs, partial penile amputation in two, partial penile amputation plus partial preputial ablation in one, penile amputation, and scrotal urethrostomy in seven, and local preputial excision in one dog. Postoperative complications included hemorrhage in 10 dogs, bruising at the urethrostomy site in seven, and urethrostomy dehiscence in one dog. Tumor recurrence was recorded in six dogs. Dogs with poorly differentiated tumors that had tumor recurrence had shorter survival and worse prognosis compared to those with well and moderately differentiated tumors. The mean survival time was 48.132 months. After a median follow-up of 23 months (range: 8 to 72 months), eight dogs were alive, five were euthanized and two dogs died from unrelated causes. Surgical excision seems to be a treatment option for dogs with squamous cell carcinoma of the external genitalia.


Subject(s)
Carcinoma, Squamous Cell , Dog Diseases , Animals , Dogs , Male , Dog Diseases/surgery , Carcinoma, Squamous Cell/veterinary , Carcinoma, Squamous Cell/surgery , Genital Neoplasms, Male/veterinary , Genital Neoplasms, Male/surgery , Orchiectomy/veterinary , Neoplasm Recurrence, Local/veterinary , Postoperative Complications/veterinary , Retrospective Studies
10.
Oman Med J ; 39(2): e620, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38988801

ABSTRACT

Isolated elephantiasis of the vulva refers to a gigantic swelling of the vulva without concomitant swelling of the lower limbs. It is a rarely reported entity and its occurrence during pregnancy has been reported only once. We report a case of an isolated vulval elephantiasis during pregnancy and we discuss the possible etiologies and management issues. Our patient had a successful vaginal delivery followed by a satisfactory genital reconstruction at eight months postpartum and no recurrence thereafter.

11.
Dermatol Reports ; 16(2): 9833, 2024 Jun 14.
Article in English | MEDLINE | ID: mdl-38979521

ABSTRACT

Worldwide, squamous cell carcinoma (SCC) incidence is rising. The literature debates the human papillomavirus (HPV)'s role in cutaneous SCC development. We examined HPV histopathology in SCC samples in this study. Retrospective study at tertiary referral skin center in 2020. Histopathological features of HPV, including koilocytosis, hyperkeratosis, acanthosis, hypergranulosis, parakeratosis, solar elastosis, papillomatosis, and tumor grade, were examined in SCC specimens. Two dermatopathologists independently reevaluated all samples. We examined 331 SCC cases (male:female ratio = 3.9:1). The mean age was 68.1, with 15.1 standard deviation. Lesions were most common on the face (40.5%), scalp (22.7%), and extremities (20.8%). Koilocytes were found in 50 (15.1%) lesions. Nail (38.1%, p=0.007), oral cavity (36.8%, p=0.014), and genitalia (60.0%, p=0.026) lesions had higher koilocytosis rates. SCCs were found in 6.6% of specimens, but in situ tumors had the highest koilocytosis (64.7%), significantly higher than other grades (p<0.001). SCC pathology often shows HPV and specific koilocyte histopathology. Well-differentiated SCC has a stronger association with nail, oral, and genital lesions.

12.
J Burn Care Res ; 2024 Jul 09.
Article in English | MEDLINE | ID: mdl-38980928

ABSTRACT

Genital burns are unique and complex injuries that impact patients physically and emotionally. This study investigates the specific impact of genital burns on psychosocial and physical outcomes. A retrospective cohort study was conducted using the TriNetX database, encompassing over 117 million patients from U.S. healthcare institutions. Patients with genital burns were identified and categorized into sub-cohorts based on TBSA and burn degree. Propensity score matching and cohort balancing were performed based on age, gender, race, and ethnicity. Outcomes were analyzed both short-term (1 month) and long-term (5 years), focusing on psychiatric and physical aspects. This study identified 3,496 genital burn patients over a 15-year period. Analyses revealed that genital burns significantly increased short-term risk of death (RR: 2.8), anxiety (RR: 2.656), hospitalization (RR: 2.167), and any anxiety, PTSD, or depression (RR: 2.363), and long-term risk of death (RR: 1.658) and pruritus (RR: 1.58) (all p<0.05). Interestingly, genital burn patients showed a lower risk of chronic joint pain compared to other burn injuries (RR: 0.815) (p<0.05). These results occurred independently of the extent of TBSA. Genital burns have a distinctive impact on patients, leading to higher rates of certain psychiatric morbidities and physical complications. This study highlights the need for tailored care and consideration of the unique challenges faced by patients with genital burns, both in the immediate aftermath and in the long term. Understanding the specific impacts of genital burns is vital for healthcare practitioners to develop care strategies and better support for patients recovering from such injuries.

13.
Endocr J ; 2024 Jul 25.
Article in English | MEDLINE | ID: mdl-39048383

ABSTRACT

There have been no reports comparing neonatal external genitalia of 5α-reductase deficiency (5αRD) with those of other 46,XY differences of sex differentiation (DSD). This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. We compared the following characteristics between 5αRD and non-5αRD groups, adjusting the severity of undermasculinization of the external genitalia: stretched penile length (SPL), glans width, location of the external urethral opening, and proportion of undescended testis. The external genitalia of all the 5αRD cases were Quigley classification grade 2 or 3. We compared the phenotypes between the four 5αRD cases and 11 non-5αRD cases with grade 2 or 3. The median (range) of SPL in the 5αRD group (14 mm [11-16]) was significantly lower than that in the non-5αRD group (22 mm [15-29]) (p = 0.003). An SPL cut-off value of <15 mm yielded a sensitivity of 50% (95% confidence interval [CI]; 7-93%) and specificity of 100% (95% CI, 72-100%) for discriminating between the groups. The median glans width, location of the external urethral opening, and proportion of undescended testis were not significantly different between the groups. The SPL of 5αRD in Quigley classification grade 2 or 3 was significantly shorter than that of other 46,XY DSDs with the equivalent grade.

14.
Neotrop Entomol ; 53(4): 987-996, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38918340

ABSTRACT

Mosquitoes (Diptera: Culicidae) pose a significant threat to public health worldwide, especially in tropical and subtropical regions, where they act as primary vectors in transmission of infectious agents. In Peru, 182 culicid species have been identified and several species of the genus Culex are known to transmit arboviruses. However, knowledge of mosquito diversity and distribution remains limited, with many studies focusing on specific regions only. Here, we describe a new morphological variation of Cx. (Culex) coronator Dyar and Knab, 1906, and report the presence of Culex (Carrollia) bonnei Dyar, 1921 in the central region of Peru, Huanuco. Specimens were obtained through larvae collections and identified through morphologic characterization, including dissection of male genitalia, and molecular analyses. In total, 17 mosquitoes were analyzed, and the genitalia of the male specimens allowed the identification of Cx. coronator and Cx. bonnei. Partial sequences of the CoxI gene corresponding to these two species were obtained (N = 10). Phylogenetic analysis revealed that the sequences of Cx. coronator grouped in a monophyletic clade with sequences ascribed to other species corresponding to the subgenus Carrollia, while Cx. bonnei specimens formed a monophyletic clade with homologous sequences from GenBank. This study underscores the importance of continued efforts to study the diversity and distribution of mosquitoes in Peru, including their potential role as vectors of human pathogens, to underpin effective disease control and prevention strategies, highlighting the importance of a complemented morphological and molecular analysis.


Subject(s)
Culex , Animals , Peru , Culex/anatomy & histology , Culex/classification , Male , Larva/anatomy & histology , Larva/classification , Genitalia, Male/anatomy & histology , Phylogeny , Female , Mosquito Vectors/anatomy & histology
16.
Adv Pediatr ; 71(1): 135-149, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38944479

ABSTRACT

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition caused by various enzyme deficiencies that result in disruptions of pathways of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form of CAH and has a variable phenotype which ranges a spectrum, from the most severe salt-wasting type to the simple-virilizing type and the least severe nonclassical form. Patients with CAH are at risk for various comorbidities due to the underlying adrenal hormone production imbalance as well as the treatment of the condition, which typically includes supraphysiologic glucocorticoid dosing. Children and adults require frequent monitoring and careful medication dosing adjustment. However, there are multiple novel therapies on the horizon that offer promise to patients with CAH in optimizing their treatment regimens and reducing the risk of comorbidities.


Subject(s)
Adrenal Hyperplasia, Congenital , Glucocorticoids , Humans , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/therapy , Adrenal Hyperplasia, Congenital/drug therapy , Glucocorticoids/therapeutic use , Child
17.
Article in English | MEDLINE | ID: mdl-38913000

ABSTRACT

This case report focuses on a rare presentation of Epstein-Barr virus as genital ulcers in a 14-year-old girl with no sexual activity history. Despite initial misdiagnosis and failed acyclovir treatment, investigations ruled out sexually transmitted causes but revealed elevated Epstein-Barr virus antibodies. Subsequent treatment with a 14-day prednisone course led to significant improvement. This case emphasizes the importance of considering nonsexual etiologies for genital ulcers to prevent delayed or inappropriate treatment and highlights the need for broader education on such atypical presentations.

18.
Aesthetic Plast Surg ; 2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38886196

ABSTRACT

BACKGROUND: Adult-Acquired Buried Penis is a disorder associated with systemic obesity that confers increased risks of malignancy, sexual dysfunction, urinary abnormalities, and psychological distress. Surgical correction improves patient-reported functional and psychological outcomes and often requires collaboration between plastic and urologic surgeons. To improve postoperative cosmetic outcomes and decrease wound complications following adult-acquired buried penis repair, we performed an anatomic and histologic study of the superficial fascial layers providing support to the external male genitalia and describe our approach for fascial reconstruction. METHODS: We characterized the superficial fascial anatomy in three patients undergoing adult-acquired buried penis repair, including two patients with Wisconsin Type II disease and one patient with Wisconsin Type IV disease. Gross specimens were sent from two patients histologic analysis using H&E and elastin-specific stains to characterize the identity of the superficial fibrofatty tissue. RESULTS: In all three patients, the fundiform ligament overlying the suspensory ligament was identified, isolated, and transected for removal with the suprapubic specimen. We found that reapproximation of this ligament following transection at the time of escutcheonectomy provided significant lift to the penis and genitals via improved support of dartos fascia. Histologic analysis of the superficial fibrofatty tissue located beneath the dermis revealed histologic similarities with the superficial fascial system described previously in abdominal and breast tissue. CONCLUSIONS: Reapproximation of the fundiform ligament and superficial fascial tissue following suprapubic/lower abdominal fat pad removal during adult-acquired buried penis may improve postoperative cosmesis by reducing strain on the dermal closure. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors http://www.springer.com/00266 .

19.
Front Endocrinol (Lausanne) ; 15: 1402579, 2024.
Article in English | MEDLINE | ID: mdl-38841305

ABSTRACT

The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.


Subject(s)
Adrenal Hyperplasia, Congenital , Fertility , Hormone Replacement Therapy , Puberty , Humans , Adrenal Hyperplasia, Congenital/drug therapy , Adrenal Hyperplasia, Congenital/genetics , Fertility/drug effects , Female , Male , Disorders of Sex Development/genetics , Sexual Development/genetics
20.
Rev. bras. cir. plást ; 39(2): 1-10, abr.jun.2024. ilus
Article in English, Portuguese | LILACS-Express | LILACS | ID: biblio-1556495

ABSTRACT

Introdução: A hipertrofia de pequenos lábios combinada com capuz clitoriano redundante é uma queixa comum entre mulheres que procuram cirurgia plástica genital cosmética por queixas funcionais, psicológicas e estéticas. O objetivo deste estudo foi descrever a técnica boomerang, um tratamento cirúrgico da hipertrofia labial que se estende a todo o capuz clitoriano. Método: Foi conduzido um estudo retrospectivo, de caráter analítico, para avaliar os prontuários médicos de 48 pacientes consecutivas submetidas a cirurgia estética genital feminina entre julho de 2017 e julho de 2021. Todos os procedimentos cirúrgicos foram realizados pela mesma cirurgiã. A técnica utilizada nas pacientes consistiu na ressecção longitudinal dos excessos de pequenos lábios vaginais associado à ressecção de capô clitoriano em forma de boomerang e à clitoropexia. Resultados: A idade média das pacientes submetidas a cirurgia foi de 36,25 anos (intervalo 18-59 anos), entre as quais 94,44% apresentaram queixas estéticas associadas ou não a queixas funcionais, e 5,56% apresentaram somente queixas funcionais. Duas pacientes apresentaram hematomas nos grandes lábios no pós-operatório imediato, e uma paciente teve deiscência de sutura nos pequenos lábios. Conclusão: A técnica boomerang é reprodutível e proporciona benefícios estéticos e/ou funcionais na genitália feminina.


Introduction: Hypertrophy of the labia minora combined with a redundant clitoral hood is a common complaint among women seeking aesthetic genital cosmetic surgery for functional, psychological, and aesthetic complaints. The objective of this study was to describe the boomerang technique, a surgical treatment for labial hypertrophy that extends to the entire clitoral hood. Method: A retrospective, analytical study was conducted to evaluate the medical records of forty-eight consecutive patients who underwent female genital cosmetic surgery between July 2017 and July 2021. The same surgeon performed all surgical procedures. The technique used in the patients consisted of longitudinal resection of excess small vaginal lips associated with resection of the boomerang-shaped clitoral hood associated with clitoroplasty. Results: The average age of patients undergoing surgery was 36.25 years (range 18-59 years), among whom 94.44% had aesthetic complaints associated or not with functional complaints, and 5.56% had only functional complaints. Two patients had bruises on the labia majora in the immediate postoperative period, and one patient had suture dehiscence on the labia minora. Conclusion: The boomerang technique is reproducible and provides aesthetic and/or functional benefits to the female genitalia.

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