Pelvic Bones* ; Sex Differentiation*

Measurement of various portions of the corpus callosum was performed on magnetic resonance(MR) images of 114 subjects with no known or suspected corpus callosal disorders. Midsagittal T1-weighted images used for measurements and mean diameters of various portions in each age and sex group were obtained. Measures of five portions were made : (A) the anterio-posterior length, (B) the diameter of genu portion, (C) the diameter of splenium, (D) the diameter of and mid-body portion, (E) the diameter of narrow portion at the body of corpus callosum. The mean diameter in each gender group for A, B, C, D, and E were 68.8mm, 12.1mm, 12.3mm, 6.9mm, 4.1mm in male and 69.9mm, 12.0mm, 12.1mm, 6.4mm, 4.1mm in female, respectively. The groups of 0-9 years of both genders showed the minimum mean value in each portion.
Corpus Callosum* ; Female ; Humans ; Male ; Sex Differentiation*

Dysgenetic male pseudohermaphroditism is a disorder of sexual differentiation in which patient with bilateral dysgenetic tests, persistent Mullerian structures, cryptorchidism and inadequate virilization. We experienced one case of dysgenetic male pseudohermaphroditism with 45,XO/46,XY mosaicism and hypothalamic dysfunction, so we reports this case with a brief review of the literatures.
46, XY Disorders of Sex Development* ; Cryptorchidism ; Disorders of Sex Development ; Humans ; Male* ; Mosaicism ; Sex Differentiation ; Virilism

PURPOSE: The purpose of this study is to analyze the etiology of gynecomastia confirmed by breast operation among children under the age of 15 exhibiting clinical symptoms. METHODS: Twenty patients under the age of 15 were diagnosed as having gynecomastia in the past 10 years. The number of pathologically confirmed gynecomastia patients was 15. The causes or related diseases were examined. Various clinical manifestations and radiological findings related to gynecomastia were evaluated. RESULTS: Of 20 pediatric patients diagnosed as having gynecomastia, 8 cases were pubertal or idiopathic gynecomastia, but 12 cases (60%) had underlying causes. The 12 cases had an etiology, 6 cases were related to abnormal sexual differentiation, 4 cases were drug-induced, and 2 cases were obesity-related. Of the 4 drug-related cases, the past history of long-term medication of anti- tuberculous drug, INH, was present in 3 cases and thiazide in one case. In the group related to abnormal sexual differentiation, pseudohermaphroditism was found in 3 cases and Reifenstein SD, Maffucci SD, and Klinefelter SD was found in each case. CONCLUSION: Although it is known that most gynecomastia is either idiopathic or puberty-related, we were able to discover etiologic agents such as drugs, obesity, and abnormal sexual differentiation in 60% of the children under 15 of age years old. Therefore, in children with gynecomastia, the presence of any congenital diseases should be searched carefully, and the underlying cause of gynecomastia should be thoroughly searched for.
Breast ; Child* ; Disorders of Sex Development ; Gynecomastia* ; Humans ; Male ; Obesity ; Sex Differentiation

Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.
Androgen-Insensitivity Syndrome* ; Breast ; Disorders of Sex Development ; Female ; Gynecomastia* ; Humans ; Infertility ; Karyotype ; Male ; Phenotype ; Receptors, Androgen ; Sex Differentiation

The birth of a new baby is one of the most dramatic events in a family, and the first question is usually "is it a boy or a girl?" The newborn infant with ambiguous external genitalia often comes as a surprise for the doctors as well as the parents and is sometimes described as an endocrine emergency situation presenting a problem of sex assignment. The nomenclature such as 'intersex', 'hermaphrodite', and 'pseudohermaphrodite' is out of date as well as confusing, and many urologists are concerned that these confusing terms could be perceived to be pejorative by some affected families. In response to concerns regarding outdated and controversial terms, the Chicago Consensus held in 2005 recommended new terminology based on the umbrella term disorders of sex differentiation (DSDs). The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the chromosomes or gonads. The karyotype is used as a prefix defining the classification of DSD. DSDs are rare and complex. The optimal management of patients with DSD must be individualized and multidisciplinary, considering all aspects, including psychological care and full disclosure of alternatives relating to surgery type and timing. Although further studies are necessary to confirm guidelines and recommendations fitting for the individual patients with DSD, this article is an attempt to provide a balanced perspective for new taxonomy, clinical evaluation, and medical, surgical, and psychological management of DSD.
Chicago ; Consensus ; Disclosure ; Disorders of Sex Development ; Emergencies ; Genitalia ; Gonads ; Humans ; Infant, Newborn ; Karyotype ; Parents ; Parturition ; Sex Differentiation

The testicular feminization is the most common type of male pseudohermaphroditism. Mutation of androgen receptor gene impairs normal sexual differentiation in genetic male (46, XY) and subsequently develops secondary female characteristics. We report three cases of complete testicular feminization syndrome with normal development of female external genitalia, but with blindly ended vagina and inguinal or pelvic masses. Microscopic examination of the testes and their adnexa had three components: 1) A testis composed of immature tubules, prominent Leydig cells and a spindle cell stroma resembling ovarian stroma with hamartomatous nodule or Sertoli cell adenoma, 2) a white, whorled, firm, smooth muscle body in the medial pole of the testis, and 3) a lateral adnexal cysts of varying sizes.
46, XY Disorders of Sex Development ; Adenoma ; Androgen-Insensitivity Syndrome* ; Cryptorchidism* ; Disorders of Sex Development ; Female ; Genitalia ; Humans ; Leydig Cells ; Male ; Muscle, Smooth ; Receptors, Androgen ; Sex Differentiation ; Testis ; Vagina

From the stand point of understanding the pathophysiology of abnormalities in sexual development, disorders can be categorized as resulting from derangements in any of the 3 principal processes involved in sexual differentiation, namely, disorders of genetic sex, disorders of gonadal sex, and disorders of phenotypic sex. During the last 5 years we have found 60 cases of disorders of sexual differentiation and tried to classify the cases according to the schematization of the above. The cases were reviewed with the observation on karyotype, external or internal or internal genitalia, in some, hormonal balance, utilizing various methods of operative examination The disorders of genetic sex consist of 3 cases of true hermaphroditism, 7 cases of Klinefelter`s syndrome, 9 cases of Turner`s syndrome, 1 case of sex reversal syndrome (XX male) l case of mixed gonadal dysgenesis, and l case of dysgenetic male pseudohermaphroditism. The disorders of gonadal sex consist of 6 cases of pure gonadal dysgenesis. The disorders of phenotypic sex consist of 11 cases of adrenogenital syndrome, 7 cases of male pseudohermaphroJitism, and 2 case of congenital absence of vagina. The remained 12 cases which were suspected as disorders of sexual differentiation were not able to be differentiated according to the inadequacy of diagnostic studies.
46, XY Disorders of Sex Development ; Adrenogenital Syndrome ; Genitalia ; Gonadal Dysgenesis ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Karyotype ; Male ; Ovotesticular Disorders of Sex Development ; Sex Differentiation* ; Sexual Development ; Vagina

Dysgenetic male pseudohermaphroditism associated with a chromosomal abnormality is a disorder of sexual differentiation resulting from a defect in normal testicular differentiation during embryogenesis. Patients with this disorder present with bilateral dysgenetic testes, persistent internal Mullerian duct structures, cryptorchidism and ambiguous genitalia. Herein a case of male pseudohermaphroditism with bilateral dysgenetic testes and dicentric Y isochromosome (46, X, i (Yq) ) is presented with brief review of literatures.
46, XY Disorders of Sex Development* ; Chromosome Aberrations ; Cryptorchidism ; Disorders of Sex Development ; Embryonic Development ; Female ; Humans ; Isochromosomes* ; Male* ; Pregnancy ; Sex Differentiation ; Testis

Klinefelter's syndrome is a disorder of sexual differentiation in males, characterized by the presence of two or more X-chromosomes, hypogonadism, and lack of secondary sexual characteristics. The association between Klinefelter's syndrome and systemic lupus erythematous has been described, while cases of rheumatoid arthritis associated with Klinefelter's syndrome are rare. We report the first Korean case: a 29-year-old man with Klinefelter's syndrome who developed rheumatoid arthritis. The sex hormone imbalance might have influenced the onset and course of his disease.
Adult ; Arthritis, Rheumatoid ; Gonadal Steroid Hormones ; Humans ; Hypogonadism ; Klinefelter Syndrome ; Male ; Sex Differentiation