Dysgerminomas are the most common type of malignant germ cell tumor. It primarily occurs in women under age thirty. Five percent of cases occur in phenotypic females with dysgenetic gonads.?

This paper presents a phenotypically female patient with hypogastric mass and primary amenorrhea. Eight months prior, patient underwent left salpingo- oophorectomy. Physical examination showed? absent secondary sexual characteristics along with normal external female genitalia. Intra-operative findings at that time confirmed the presence of a uterus along with absent right ovary. Hormonal studies revealed increased gonadotropin levels, decreased estrogen and female testosterone levels. Serum LDH was elevated. Karyotyping revealed XY chromosome. Pure gonadal dysgenesis is characterized by abnormal testicular determination. The syndrome, as described by the Swyer in 1955, presents the complete form of "pure" gonadal dysgenesis. This involves the association of the female phenotype, female internal genitalia, normal or tall statue and sexual infantilism with primary amenorrhea. These patients have streak gonads that do not secrete testosterone or Mullerian inhibiting factor, and therefore Mullerian derivatives develop.

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Human ; Female ; Young Adult ; Dysgerminoma ; Amenorrhea ; Anti-mullerian Hormone ; Sexual Infantilism ; Gonadal Dysgenesis ; Turner Syndrome ; Chromosomes

PURPOSE:Decreased bone mineral density(BMD) has been reported in girls with Turner syndrome. Estrogen therapy is recommanded to improve sexual infantilism and decreased BMD. Short stature is also characteristic finding in patients with Turner syndrome. Treatment modality for short stature has included estrogen, anabolic steroids and growth hormone(GH). Recently GH therapy in GH deficient children could increase BMD in addition to improve short stature. We observed the treatment effects on bone mineral density in patients with Turner syndrome. METHODS: Bone Mineral Density in second to fourth lumbar spine area were measured by dual energy X-ray absorptiometry in 56 girls with Turner syndrome, before and after growth hormone and/or estrogen. All Turner girl was confirmed by clinical and chromosomal examination. RESULTS: 1) There was no significant difference in BMD according to karyotype. 2) The mean BMD of untreated Turner syndrome was 0.752+/-0.122g/cm2. 3) The mean BMD before and after GH treatment were 0.620+/-0.028g/cm2, 0.793+/-0.093g/cm2 respectively. The mean BMD before and after estrogen treatment were 0.761+/-0.125g/cm2, 0.918+/-0.141g/cm2 respectively. In combined group, the BMD were 0.752+/-0.087g/cm2 and 0.939+/-0.134g/cm2. Growth hormone was also effective to improve BMD as well as estrogen. But the changes of BMD were more significant in estrogen and combined group(p<0.05). 4) A significant positive correlation was found between age and BMD(p<0.05). CONCLUSIONS:Estrogen therapy can accelerate epiphysial maturation and compromise final height. Growth hormone therapy in Turner girls was effective for improvement bone mineral density as well as growth improvement. But growth hormone and estrogen combined therapy or Estrogen therapy is more effective to improve bone mineral density in Turner syndrome. Estrogen replacement can be delayed for a while on growth hormone treatment and the appropriated time of estrogen therapy should be elucidated.
Absorptiometry, Photon ; Bone Density* ; Child ; Estrogen Replacement Therapy ; Estrogens ; Female ; Growth Hormone ; Humans ; Karyotype ; Sexual Infantilism ; Spine ; Steroids ; Turner Syndrome*

Dear Author, You have used abbreviations that will need to be defined in the main paper, i.e. PIT1, PROP1 and MRI. This is just for your advice. Pituitary agenesis is an uncommon cause of panhypopituitarism. It has been proposed that breech delivery, or birth trauma, is a major factor causing pituitary agenesis. Recent studies have suggested that genetic defects in the PIT1 or PROP1 gene might be involved in the pathogenesis of pituitary agenesis. In this case we report on the diagnosis of a 33-years old female patient with-growth retardation and sexual infantilism. We diagnosed anterior pituitary hormones deficiencies, with the exception of adrenocorticotropic hormone, by a combined pituitary stimulation test. We observed pituitary agenesis using sella MRI. Involvement of the PIT1 or PROP1 genes in this case remains to be determined. Here we report a case of pituitary agenesis found in an adult woman together with a brief review about this disease entity.
Abbreviations ; Adrenocorticotropic Hormone ; Adult* ; Diagnosis ; Female ; Humans ; Hypopituitarism ; Magnetic Resonance Imaging ; Parturition ; Pituitary Hormones, Anterior ; Sexual Infantilism

17alpha- hydroxylase deficiency is a rare form of congenital adrenal hyperplasia and characterized by the coexistance of hypertension caused by the hyperproduction of mineralocorticoid precursors and sexual abnormalities, such as female pseudohermaphroditism and sexually infantile female with 46,XX karyotype or male pseudohermaphroditism with 46, XY karyotype, due to impaired production of sex hormone. We experienced a case of 17alpha- hydroxylase deficiency (46,XX) presented with primary amenorrhea, sexual infantilism, and hypertension. We report this case with a brief review of the concerned literatures.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Adrenal Hyperplasia, Congenital ; Amenorrhea* ; Female ; Humans ; Hypertension* ; Karyotype ; Sexual Infantilism

PURPOSE: Estrogen deficiency causes sexual infantilism in Turner syndrome, which could decrease the bone mineral density(BMD) since birth. This decreased BMD might be contributed by the decreased growth hormone(GH) secretion. To improve the decreased BMD, estrogen therapy is recommended, especially after the pubertal age, but estrogen therpay during childhood can accelerate the epiphyseal fusion, resulting in shorter final height. There is a possibility that GH therapy not only ameliorates the final height, but also improve the decreased BMD, because GH is known to be involved in the normal bone metabolism. We observed whether GH therapy, given to improve the growth velocity, can change the BMD in the girls with Turner syndrome. METHODS: Thirteen prepubertal girls with Turner syndrome, who were confirmed by clinical and chromosomal examinations, were given GH(1 U/kg/week, daily, subcutaneous) for one year. During GH therapy, BMDs were mesured by DEXA(dual energy X-ray absorptiometry at trochanter and lumbar spine between the second and fourth vertebra. Growth velocity significantly increased during GH therapy and bone age were significantly advanced during this period. RESULTS: 1) The BMD of femur neck was significantly increased from 0.59+/-0.09 gm/cm2 before therapy to 0.73+/-0.07 gm/cm2 and 0.81+/-0.06 gm/cm2 at 6 and 12 months of therapy, respectively(p<0.01, Fig. 2). 2) The BMD of 2nd lumbar spine did not change during GH therapy. 3) The BMD of 3rd lumbar spine was decreased with marginal significance from 0.73+/-0.09 gm/cm2 before therapy to 0.66+/-0.09 gm/cm2, 0.65+/-0.05 gm/cm2 after 6 and 12 months of therapy, respectively(p=0.05). 4) The BMD of 4th lumbar spine was significantly decreased from 0.75+/-0.06 gm/cm2 before therapy to 0.69+/-0.10 gm/cm2, 0.64+/-0.08 gm/cm2 after 6 and 12 months of therapy, respectively(p<0.01, Fig. 2). 5) There was no significant correlation between the changes of the BMD and Bone or chronological age at initial GH therapy. Conclusion : The positive effect on BMD of GH therapy seems to be dependent on the specific area of skeletal system, where GH might exerts its effect, regardless of the existence of estrogen effect. The BMDs of another areas of skeletal system, where GH does not exert its effect, did not change with GH therapy and rather decreased by probably unknown mechanisms and GH therapy. These unknown mechanisms partially might involve the estrogen defect on BMD, This should be remained to be clarified with more patients and longer duration of study.
Absorptiometry, Photon ; Bone Density* ; Estrogens ; Female* ; Femur ; Femur Neck ; Human Growth Hormone* ; Humans ; Humans* ; Metabolism ; Parturition ; Sexual Infantilism ; Spine ; Turner Syndrome*

Swyer syndrome is characterized by a female phenotype, normal to tall stature, sexual infantilism with primary amenorrhea and 46,XY karyotype. The internal genitalia are female with uterus and full vagina, but have no ovaries or testis. Swyer syndrome is often diagnosed when young adults are evaluated for delayed puberty, as menstruation dose not occur naturally. We experienced a case of Swyer syndrome diagnosed incidentally in course of evaluating intrauterine growth retardation and delayed growth in infant. So, we report a case of Swyer syndrome with a brief review of literatures.
Amenorrhea ; Female ; Fetal Growth Retardation ; Genitalia ; Gonadal Dysgenesis, 46,XY* ; Humans ; Infant* ; Karyotype ; Menstruation ; Ovary ; Phenotype ; Puberty, Delayed ; Sexual Infantilism ; Testis ; Uterus ; Vagina ; Young Adult

Dysgerminoma developed in a 21-year-old phenotypic female patient with 46,XY pure gonadal dysgenesis, Swyer syndrome. This patient presented with pelvic mass associated with abdominal pain and primay amenorrhea. Clinical characteristics showed a typical stigmata of gonadal dysgenesis: primary amenorrhea, sexual infantilism, a small uterus and left streak gonad. A 46,XY karyotype was made by lymphocyte culture. The patient was counseled to undergo operation, chemotherapy and hormon therapy. She underwent bilateral gonadectomy with total hysterectomy, partial omentectomy and multiple pelvic wall random biopsy. Histological examination revealed dysgenetic gonads with dysgerminoma. After surgery, the patient received chemotherapy and also was started on hormone replacement therapy. She is currently alive with no evidence of disease after 19 months from surgery.
Abdominal Pain ; Amenorrhea ; Biopsy ; Christianity ; Drug Therapy ; Dysgerminoma* ; Female ; Gonadal Dysgenesis ; Gonadal Dysgenesis, 46,XY* ; Gonads ; Hormone Replacement Therapy ; Humans ; Hysterectomy ; Karyotype ; Lymphocytes ; Sexual Infantilism ; Uterus ; Young Adult

Congenital adrenal hyperplasia (CAH) with 17alpha-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17alpha-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17alpha-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17alpha-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.
Abdominal Pain ; Adrenal Glands ; Adrenal Hyperplasia, Congenital* ; Adrenalectomy ; Adrenocortical Adenoma ; Adrenocorticotropic Hormone ; Adult ; Amenorrhea ; Blood Pressure ; Disorders of Sex Development ; Female ; Humans ; Hyperplasia ; Hypertension ; Male ; Phenotype ; Sexual Infantilism

Down-Turner syndrome is a rare disease with the incidence of 1 in 2 million. Although Down syndrome with various Turner's karyotype were reported occasionally since a report in 1962, it was not reported in Korea. We experienced a case of Down-Turner syndrome with 47, X, del(X)(p11.2), +21/ 47, XX, +21, who has clinical features of Down syndrome such as hypotonia, weak Moro reflex, round and wide face, flat occiput, epicanthal folds, upward slanting of the palpebral fissures, low set ears, a simian line on both palms and the brachydactyly of the right little finger with the appearance of Turner syndrome such as the edema of hands, webbed neck. We think it will be necessary to follow up the patient in regard to the aspects such as infertility, sexual infantilism, and primary amenorrhea.
Amenorrhea ; Brachydactyly ; Down Syndrome ; Ear ; Edema ; Female ; Fingers ; Follow-Up Studies ; Hand ; Humans ; Incidence ; Infertility ; Karyotype ; Korea ; Muscle Hypotonia ; Neck ; Rare Diseases ; Reflex ; Sexual Infantilism ; Turner Syndrome

Congenital adrenal hyperplasia is an uncommon diagnosis in routine clinical practice. 21-hydroxylase deficiency, which is its most common subtype, may be diagnosed at birth in a female infant by virilisation or by features of salt wasting in both genders. However, other uncommon subtypes of this condition such as 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency may present much later in adolescence or adulthood. A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism.
Adolescent ; Adrenal Hyperplasia, Congenital ; diagnosis ; genetics ; Alkalosis ; diagnosis ; Diagnosis, Differential ; Female ; Humans ; Hypertension ; diagnosis ; Hypokalemia ; diagnosis ; Models, Biological ; Paralysis ; diagnosis ; Sexual Infantilism ; diagnosis ; Steroid 21-Hydroxylase ; metabolism