RESUMO
A two-year-old Arabian horse presented for abnormal external genitalia and dangerous stallion-like behavior was diagnosed with disorder of sexual development (DSD), also known as intersex/hermaphroditism. Standing 1-stage surgical procedure performed under sedation, and local anesthesia to concurrently eliminate stallion-like behavior, risk of neoplastic transformation of intraabdominal gonads, and to replace ambiguous external genital with a functional, and cosmetically more acceptable anatomy. Step-1) Laparoscopic abdominal exploration and gonadectomy; Step-2) Rudimentary penis resection and perineal urethrostomy. The horse tolerated surgery well (combined surgery time 185 min) with no complications. At macroscopic examination of the gonads, they resembled hypoplastic testis-like tissues. Microscopic examination confirmed presence of seminiferous tubules, Leydig and Sertoli/granulosa cells. Cytogenetic evaluation revealed a 64,XX karyotype, SRY-negative. The stallion-like behavior subsided within days post-operatively. Long-term follow-up revealed the genitoplasty site healed without urine scalding or urethral stricture. The owner satisfaction was excellent and the horse could be used post-surgery as an athlete.
Assuntos
Transtornos do Desenvolvimento Sexual , Doenças dos Cavalos , Feminino , Masculino , Cavalos , Animais , Administração de Caso , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/cirurgia , Transtornos do Desenvolvimento Sexual/veterinária , Gônadas , Cariotipagem/veterinária , Cariótipo , Doenças dos Cavalos/cirurgiaRESUMO
A 10-year-old intact female Chinese Crested dog was presented for evaluation and further diagnostics due to persistent symptoms of vulvar swelling, vaginal discharge, and an 8-year history of acyclicity. At presentation, generalized hyperpigmentation and truncal alopecia were identified, with no aberrations of the female phenotype. Vaginal cytology confirmed the influence of estrogen at multiple veterinary visits, and hormonal screening of progesterone and anti-Mullerian hormone indicated gonadal presence. Based on findings from abdominal laparotomy and gonadectomy, the tissue was submitted for histopathology. Histopathologic evaluation identified the gonads to be abnormal testes containing multiple Sertoli and interstitial (Leydig) cell tumors. The histopathologic diagnosis of testes and concurrent normal external female phenotype in the patient lead to a diagnosis of a disorder of sexual development (DSD). Karyotype evaluation by conventional and molecular analysis revealed a two cell line chimeric pattern of 78,XX (80%) and 78,XY (20%) among blood leukocytes, as well as a positive PCR test for the Y-linked SRY gene. Cytogenetic analysis of skin fibroblasts revealed the presence of 78,XX cells exclusively, and PCR tests for the Y-linked SRY gene were negative in the hair and skin samples. These results are consistent with an XX/XY blood chimerism. This is one of the few case reports of a canine with the diagnosis of leukocyte chimerism with normal female phenotypic external genitalia. This case illustrates a distinct presentation for hormonally active Sertoli cell tumorigenesis and demonstrates surgery as a curative treatment option for clinically affected patients.
RESUMO
During the Golden Age of the Roman Empire, Rome was transformed into a magnificent city where architecture, the arts, and commerce flourished. An inconceivable amount of wealth was accumulated by a handful of noble families, while the masses starved. In such a context, moral values inevitably decline, while sexual mores are liberalized and ever more veer towards salacity. This reality was elegantly illustrated in short, often sarcastic poems known as epigrams. Herein, we present a case of a woman with enigmatic appearance of the external genitalia, exhibiting unrestrained homosexual activity, as described in an epigram by Marcus Valerius Martialis (a contemporary poet who lived in the 1st century AD). Based on the information provided in the ancient text, we formulate a differential diagnosis and deduce that this woman was, in fact, a case of congenital adrenal hyperplasia (CAH). To our knowledge, this is the earliest literary description worldwide of a case of CAH as a cause of homosexuality and unquenchable lust.
Assuntos
Hiperplasia Suprarrenal Congênita , Relações Extramatrimoniais , Feminino , Humanos , Comportamento SexualRESUMO
OBJECTIVES: We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy. CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy. CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.
Assuntos
Castração , Disgenesia Gonadal 46 XY/cirurgia , Procedimentos Cirúrgicos Profiláticos , Adolescente , Adulto , Biomarcadores , Biópsia , Castração/métodos , Feminino , Disgenesia Gonadal 46 XY/diagnóstico , Gônadas/patologia , Gônadas/cirurgia , Humanos , Imageamento por Ressonância Magnética , Fenótipo , Neoplasias Urogenitais/prevenção & controle , Adulto JovemRESUMO
The concept of metamorphosis (change of form, structure, or substance) is very frequently encountered in Ancient Greek and Roman literature. One of the most striking types of metamorphosis described in many myths is gender transformation, where a man becomes a woman or vice versa. Herein, we present a case of pubertal gender inversion, the marvelous story of the Cretan Leucippus, which not only inspired many ancient writers but also led to the development of a distinct, local, religious cult. A medical interpretation of the myth, whereby we attempt to establish a diagnosis for this case of heterosexual puberty, is also provided.
Assuntos
Identidade de Gênero , Puberdade , Feminino , Grécia , Humanos , MasculinoRESUMO
Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome (PAIS) and lacking AR mutations. The whole exome sequencing of the patient and his family members identified a heterozygous FKBP4 gene mutation, c.956T>C (p.Leu319Pro), inherited from the mother. The gene encodes FKBP prolyl isomerase 4, a positive regulator of the AR signaling pathway. This is the first report describing a FKBP4 gene mutation in association with a human disorder of sexual development (DSD). Importantly, the dysfunction of a homologous gene was previously reported in mice, resulting in a phenotype corresponding to PAIS. Moreover, the Leu319Pro amino acid substitution occurred in a highly conserved position of the FKBP4 region, responsible for interaction with other proteins that are crucial for the AR functional heterocomplex formation and therefore the substitution is predicted to cause the disease. We proposed the FKBP4 gene as a candidate AIS gene and suggest screening that gene for the molecular diagnosis of AIS patients lacking AR gene mutations.
Assuntos
Síndrome de Resistência a Andrógenos/genética , Receptores Androgênicos/genética , Transdução de Sinais/genética , Proteínas de Ligação a Tacrolimo/genética , Sequência de Aminoácidos , Substituição de Aminoácidos/genética , Criança , Exoma/genética , Humanos , Masculino , Mutação/genética , Desenvolvimento Sexual/genéticaRESUMO
INTRODUCTION: Ambiguous Genitalia is a form of birth defect in which sex of the newborn cannot be readily distinguishable because of atypical appearance of the external genitalia. CASE REPORT-CLINICAL FINDINGS: The patient, an 8 months old baby, was identified as a female baby since birth; but, some senior members of their neighborhood raised confusion regarding sex differentiation of the child. On examination, there was enlarged clitoris or micropenis, bifid scrotum or labioscrotal fold, and separate presence of urethral and vaginal orifices. Right testis was found in the middle of right inguinal canal and left testis was found near the deep inguinal ring. CASE REPORT-DIAGNOSIS, THERAPEUTIC INTERVENTION AND OUTCOME: The ultrasonogram showed a rudimentary uterus measuring 26.7×7.27mm with no ovary and the right testis was found in the mid inguinal canal while the left testis was in the deep inguinal ring. Diagnostic endoscopic procedure showed normal appearing testes in deep inguinal ring, about 2cm vaginal remnant with normal urethra and bladder. Hormonal study revealed low serum testosterone with normal DHT and high oestradiol while the karyotyping revealed 46XY. After 3 months of hormonal treatment, multiple surgical interventions were taken to correctly determine the sex of the child. Later on the patient was discharged with follow up advices. CONCLUSION: 'Ambiguous genitalia' is considered as a taboo in Bangladesh; hence, the social awareness regarding this curable disorder is a timely need in Bangladesh.