Mutations in the Y linked testis determining gene SRY cause 46,XY sex reversal. However, only about 15% of cases of 46,XY sex reversal are accounted for by mutations in SRY. In this study we have investigated the possibility that mutations affecting the expression of SRY might cause some of the cases of sex reversal in which the coding sequence of SRY is normal. We have screened 2 kb of DNA imm...

CONTEXT Although a rare occurrence, previously undiagnosed disorders of sex development (DSD) with hyperandrogenism are sometimes detected by hormonal screening during the international sports competitions. Identifying the cause of XY,DSD raises medical and ethical concerns, especially with regard to issues of the eligibility to compete. OBJECTIVE The aim of this study was to determine whethe...

objective: to report a case of long-term disease free and successful pregnancy after fertility sparing staging surgery with adjuvant chemotherapy in a 46,xy gonadal dysgenetic with malignant germ cell tumor. materials and methods: a case report from a university hospital about a 19-year-old female with 46,xy karyotype ( swyer syndrome). the patient underwent bilateral gonadectomy and staging wi...

EDITOR—Turner syndrome is one of the most common chromosomal abnormality syndromes aVecting 1 in 2500 liveborn females. The syndrome is characterised by short stature, gonadal dysgenesis, congenital heart disease, renal anomalies, and a variety of somatic features including neck webbing, cubitus valgus, short neck, and widely set nipples. Nearly half of the patients have a classical 45,X karyot...

BACKGROUND Congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46XY genetic males. CASE CHARACTERISTICS Two patients (46 XY karyotype), one having ambiguous genitalia and other having female external genitalia, presented with adrenal crisis at 6 months and 4 weeks of age, respectively. OBSERVATION Steroidogenic Acute Regulatory Protein gene sequenci...

Complete androgen insensitivity syndrome (CAIS) is a genetic disease caused by mutations in the androgen receptor gene. CAIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes. Our aim is to describe a group of CAIS patients in our centre and identify the ...

Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia of normal female. In this manuscript, we describe nine year old child diagnosed at three years age with Autoimmune Polyendocrine type-1 (APS-1). The was female no hernia. Parents initially declined any endocrine disorder in family. Genetic study, which...

OBJECTIVE The molecular mechanisms underlying sex differences in dyslipidemia are poorly understood. We aimed to distinguish genetic and hormonal regulators of sex differences in plasma lipid levels. APPROACH AND RESULTS We assessed the role of gonadal hormones and sex chromosome complement on lipid levels using the four core genotypes mouse model (XX females, XX males, XY females, and XY mal...