Turner's syndrome followed by acromegaly in the third decade of life: an unusual coincidence of two rare conditions.

We present an unusual coincidence of acromegaly and Turner's syndrome. A girl was diagnosed with Turner's syndrome when she presented with short stature, primary amenorrhea, Hashimoto's thyroiditis, and some heart and renal anomalies. No therapy with growth hormone and only a few months treatment with estrogen-progestin was given. A typical picture of acromegaly occurred in the third decade of her life. Bone radiographs and densitometry suggested the more pronounced influence of acromegaly within the skeleton, but no features typical for acromegaly were found in the cardiovascular system. To our knowledge no case of coincidence of the above mentioned conditions has been reported to date. The influence of both of these conditions on bones and heart is discussed.     

Multiple myeloma with myeloma nephropathy in a patient with Hashimoto's thyroiditis.

Hashimoto's thyroiditis is associated with myeloproliferative and lymphoproliferative neoplasms. The risk of carcinoma of the thyroid gland is increased in these patients. Furthermore, multiple myeloma can present together with some autoimmune diseases. We report the case of a 57-year-old woman with Hashimoto's thyroiditis who developed multiple myeloma with myeloma nephropathy. Her renal function deteriorated to end stage and she required maintenance hemodialysis. Although autoimmune disorder might play an important role in lymphomagenesis in patients with Hashimoto's thyroiditis, it is not known whether the chronic inflammation that takes place in Hashimoto's thyroiditis stimulates the development of multiple myeloma. The pathogenetic mechanisms responsible for the development of multiple myeloma in patients with Hashimoto's thyroiditis remain unclear.     

Gonadal dysgenesis and somatic stigmata in patients with 45,X/46,Xr(X) ring chromosome

Two cases of gonadal dysgenesis and stigmata of Turner's syndrome with ring chromosome X are described. Their features support the idea that ring chromosome X should be considered as a deletion in the genetic sense, affecting both the gonadal and statural determinants. Without knowing the cytogenetic findings, these patients are usually labeled as having Turner's syndrome. Furthermore, endocrine data and histologic examination of the gonads are indistinguishable from those of individuals with 45,X or 46XX gonadal dysgenesis.     

Atypical polypoid adenomyoma of the uterus associated with Turner's syndrome. A report of three cases, including a review of "estrogen-associated" endometrial neoplasms and neoplasms associated with Turner's syndrome

The clinical and pathological features of three atypical polypoid adenomyomas of the uterus that were associated with Turner's syndrome are described. The patients, at least two of whom had been on long-term exogenous estrogens, were in their third decade and presented with abnormal vaginal bleeding. In two cases an exophytic mass protruded through the external os and clinically suggested a malignant tumor. The histological (and in one case, the ultrastructural) findings were similar to those of previously described cases of atypical polypoid adenomyoma. The clinical findings in these cases suggest that some atypical polypoid adenomyomas may be a complication of prolonged estrogenic stimulation. The association between Turner's syndrome and other gynecological neoplasms is reviewed.     

Turner's syndrome and oocyte donation

This paper reviews literature about oocyte donation for patients with Turner's syndrome and reports the experience of our center. Before contemplating pregnancy, it is essential to perform a careful evaluation of the cardiovascular system, the renal system, the thyroid status and the glucose tolerance. Different studies have reported a suboptimal response of the endometrium of women with Turner's syndrome to oestrogen therapy, and suggested that higher doses of estrogens may be necessary to achieve appropriate endometrial preparation. Pregnancy rate per transfer following oocyte donation is around 30% for patients with Turner's syndrome, comparable to the one observed for patients with other conditions requiring oocyte donation. Miscarriage rate is however higher (40-50%) after oocyte donation in Turner's syndrome, and could be related to the presence of a hypoplastic uterus along with hypovascularization. During pregnancy, cardiovascular complications are potentially the most severe, such as the exacerbation of a preexisting hypertension and the dissection of aortic aneurysms. There is a high rate of Caesarean section among Turner's syndrome patients, the main reason being fetopelvic disproportion. Regarding the increased obstetrical risks in Turner's syndrome patients, the selective transfer of one embryo should ideally be performed in order to avoid additional risks associated with multiple pregnancies. In our center, 9 patients with a Turner's syndrome had 15 cycles of oocyte donation. Five pregnancies were obtained among which three were evolutive. The outcome of oocyte donation cycles were comparable for patients with a Turner's syndrome and for patients with other indications of oocyte donation.     

Clinical picture in patients with 46,X,i(Xq) karyotype. Are there differences from Turner syndrome?

Clinical presentation in 2 patients with 46,X,i(Xq)-Karyotype are described. In both cases no mosaicism could be detected. The two patients show the classical features of gonadal dysgenesis: short stature, sexual infantilism and primary amenorrhea due to streak ovaries. Other characteristic somatic manifestations of the Turner syndrome such as webbing of the neck, however, were missing. In one of the two cases a Hashimoto's thyroiditis was present, which has been repeatedly reported before in the literature in cases with 46,X,i(Xq)-karyotype.     

Albright's syndrome with acromegaly and Hashimoto's thyroiditis: report of a case

The case of a 35-year-old woman with Albright's syndrome, acromegaly and Hashimoto's thyroiditis is presented. She had noted deformity of the left mandible and chest from childhood. She developed persistent galactorrhea and amenorrhea after the delivery of her second child. X ray of the skull, and a head CT, revealed a pituitary tumor and fibrous dysplasia of the left mandible, sphenoid, zygomatic bone and pteryoid plate. Serum GH and PRL levels were markedly elevated. She received recontouring surgery of the left mandible, and a pathological examination confirmed the diagnosis of fibrous dysplasia. Chest X ray also showed fibrous dysplastic change of the left 4th, 5th, 6th and 7th ribs and left clavicle. Because of poor response to bromocriptine, she received a craniotomy to remove the pituitary macroadenoma. Pathological examination of the tumor revealed an acidophilic tumor. Postoperative radiotherapy was given for residual active tumor. She developed adrenal crisis two months after radiotherapy when she discontinued replacement therapy. The diagnosis of Hashimoto's thyroiditis was arrived at by palpation of the goiter, elevated thyroid antibodies, ultrasound pictures of the thyroid, fine needle aspiration cytology and hypothyroidism. To our knowledge, this is the first report of Albright's syndrome with Hashimoto's thyroiditis. The hypothesis of autoimmune disease is proposed to explain the hypofunction of the endocrine glands associated with Albright's syndrome.     

Diagnostic pitfalls of fine-needle aspiration cytology and prognostic impact of chemotherapy in thyroid lymphoma.

BACKGROUND AND PURPOSE: Fine-needle aspiration cytology (FNAC) is an important method in the evaluation of goiter. However, difficulties are encountered when using this technique to distinguish Hashimoto's thyroiditis from thyroid lymphoma. This study sought to determine the diagnostic sensitivity of FNAC and to determine the effectiveness of chemotherapy in the treatment of thyroid lymphoma. METHODS: We retrospectively reviewed the clinical manifestations, diagnostic methods, treatment, and prognosis in 14 consecutive patients with histopathology-verified thyroid lymphoma treated in National Taiwan University Hospital from 1981 to 2000. RESULTS: Eleven of the 14 patients underwent FNAC, which identified six lymphomas, one anaplastic carcinoma, three cases of Hashimoto's thyroiditis, and one case of Riedel's struma. Because all cases were promptly biopsied, the mean survival times for patients with or without the correct initial diagnosis (15 mo vs 43 mo) did not differ significantly (p = 0.098 by Student's t-test). Thyroid lymphoma was diagnosed before 1990 in four patients, three of whom were treated with local radiotherapy and one with surgical resection. The mean survival time of these four patients was 60 days. Thyroid lymphoma was diagnosed after 1990 in 10 patients, nine of whom underwent systemic chemotherapy, with additional adjunctive radiotherapy in three patients. The mean survival time in the nine of these 10 patients with follow-up was 60 months. A significant difference was found in the mean disease-free survival times between patients treated before and after 1990 (60 d vs 60 mo, p = 0.005). CONCLUSIONS: In this study, FNAC had a sensitivity of only 55%, its major limitation being misdiagnosis of lymphoma as Hashimoto's thyroiditis in three patients. However, such initial misdiagnosis does not affect the prognosis if promptly corrected by histopathology. As evidenced by the improved survival of patients receiving chemotherapy after 1990, we conclude that chemotherapy is effective in the treatment of thyroid lymphoma.     

X/X translocation and Turner's syndrome in a woman with climacterium praecox.

A woman with X/X translocation is presented, and the association between the different types of X/X translocation and Turner's syndrome as well as the question of menstruations and fertility in women with Turner's syndrome are discussed. It is concluded that streak gonads should most probably not be included in the definition of Turner's syndrome.     

Turner's syndrome and pregnancy

After briefly summarizing Turner's syndrome, the authors reviewed several cases reported in the literature where pregnancy occurred in association with this syndrome. From this study it was revealed that pregnancy is exceptional in the course of Turner's syndrome since only 2 p. cent of women with this disorder conceive. Such an outcome may be explained by a reduced number of ovarian follicles. The poor prognosis when pregnancy does occur is represented by a 38 p. cent incidence of miscarriage, and an 18.4 p. cent rate of fetal malformations including a 6 p. cent rate of trisomy 21 (Down's syndrome). This finding requires that the patient be taken care of in a specialized department of obstetrics-gynecology, necessitates prenatal diagnosis and poses an ethical problem as to the obstetrical future of these patients.     

Fetal cystic hygroma colli: antenatal diagnosis, significance, and management

Twenty-four cases of fetal cystic hygroma colli were diagnosed by ultrasound. In two patients, the diagnosis was not confirmed at autopsy. Ten of these were cases of Turner's syndrome, one was a case of Turner's mosaicism, three had other aneuploidies, four had normal chromosomes, and six had a failed chromosome culture. The diagnosis, management, and future counseling of these patients are discussed.     

Pregnancy in a patient with Turner syndrome

Fertility in patients with a diagnosis of Turner's syndrome confirmed by karyotype examination is a very rare phenomenon. Only in 2% of all cases the pregnancy is a result of a spontaneous ovulation and intrauterine fertilization. Due to high proportion of complications occurring in pregnancy, in labour and in puerperium, only minority of patients can expect delivering a healthy infant. Literature data indicate that 40% of patients with Turner's syndrome give birth to a healthy child. Other pregnancies are terminated either by delivering a child with congenital defect or by a spontaneous abortion. We report a case of a 26-year-old patient with Turner's syndrome (46XX/45XO) who menstruated regularly after hormonal replacement therapy. She had regular menstrual bleeding through period of two years, after withdrawal of hormones administration. In march diagnosis of pregnancy was made, as a result of a spontaneous ovulation. The healthy, full-term fetus was born in 40th week of pregnancy.     

Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner's syndrome

Short stature, which may be a result of intrauterine growth retardation (IUGR), is a characteristic of Turner's syndrome. However, the loci responsible for IUGR have not been well studied. We reviewed the birth records of 74 patients with Turner's syndrome: 20 with pure X monosomy, 44 with X-mosaicisms, and 10 with X-structural abnormalities. The overall incidence of IUGR was 39.2% (29 of 74 patients). The SHOX gene is encoded in a terminal segment of the short arm of the X chromosome. In 39 patients where two copies of the SHOX gene were absent, the incidence of IUGR was 46.2% (18 of 39 patients). In 14 patients with two copies of the SHOX gene, the incidence of IUGR was significantly lower at 7.1% (1 of 14 patients). Our results suggest that SHOX influences in utero growth in Turner's syndrome.     

Changes of serum protein and immunoglobulins in ovarian agenesis

The levels of serum proteins and immunoglobulins were determined in five cases of Turner's syndrome, in five secondary amenorrheic patients who responded to progesterone, and in five healthy women as controls. Compared with the controls, the patients with secondary amenorrhea showed significantly lower albumin, but higher alpha 1- and beta-globulins; IgG was also lower. In the Turner's syndrome group, gamma globulin, IgG and IgM levels were significantly lower. These results support the suggestion that at least some of the serum proteins and immunoglobulins are related to estrogen.     

Significance of dermatoglyphics and palmar furrows for genetic and clinical problem formation in gynecology and obstetrics]

After having described the bases of dactyloscopy, the authors report on the clinical importance of this method in gynecology and obstetrics. Own results about Turner's syndrome and first experiences of the dactyloscopic examination of mothers of malformed infants are discussed. The patients with XO Turner's syndrome in our series have a ridge count of 181, comparable to the value of 178, 6 observed by Penrose. Mothers of infants with congenital malformations have no different dactyloscopic features in comparison with the controls.     

Endometrial findings in long-term treatment with synthetic sex steroids in Turner syndrome

In 9 patients with Turner's syndrome (karyotype 45/X0) aged from 23 to 50 years (average age 34 years) a curettage was performed. In these women there has been a treatment with mestranol 80 micrograms or ethinylestradiol 50 micrograms and chlormadinome acetate 2 mg as a sequential therapy in a cyclic manner for 5 to 22 years. Additionally in 3 patients a biopsy from the uterine cervix was performed because of abnormal colposcopic findings. Only in one patient an atrophic endometrium was found, whereas in the other patients the endometrium showed a weak proliferation or a slight secretion. Ectasia of the endometrial glands was observed in 4 patients. A hyperplastic endometrium wasn't found in any patient.     

Hypothyroidism in pregnant women

Ten pregnant women with hypothyroidism and 10 newborns born to these women were studied. In 3 pregnant women the infantile and juvenile type of hypothyroidism were diagnosed. In 6 women hypothyroidism resulted from partial or total thyroidectomy (for toxic goitre or papillary carcinoma), and in one it was a result of Hashimoto's thyroiditis. In all studied women the serum levels were determined of thyrotropin (TSH), thyroxine (T4) and triiodothyronine (T3). The pregnant patients were treated with thyroid hormones such as L-thyroxine or thyroidin. All newborns of these women were evaluated clinically and the levels of TSH, T4 and T3 were determined in them.     

21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity

OBJECTIVE: To report a case of cryptic 21-hydroxylase deficiency identified at the time of ovum donation in a patient with Turner's syndrome. DESIGN: Case report. SETTING: University IVF practice. PATIENT(S): A 28-year-old woman with Turner's syndrome who presented for ovum donation. INTERVENTION(S): Four cycles of donor IVF. MAIN OUTCOME MEASURE(S): Pregnancy, endometrial appearance, progesterone, and 17-hydroxyprogesterone values. RESULT(S): The patient failed two fresh and two frozen ET cycles with donated oocytes. The appearance of the endometrium suggested elevated progesterone before progesterone supplementation. An elevated progesterone was detected but not suppressed by leuprolide acetate. Progesterone was suppressed by adding dexamethasone. The diagnosis of cryptic 21-hydroxylase deficiency was confirmed biochemically. CONCLUSION(S): Patients with Turner's syndrome reportedly have poorer outcomes with donor IVF than other women. They also have an increased incidence of carrying a defective 21-hydroxylase gene. We suggest that some of the poorer outcomes may be explained by the presence of elevated progesterone and recommend evaluation of possible congenital adrenal hyperplasia in patients with Turner's syndrome who want oocyte donation.     

Contemporary issues in primary amenorrhea

Reproductive medicine has changed dramatically since the 1981 publication of the study of patients presenting with pubertal amenorrhea. The breakdown of causes likely remains unchanged, with the four most common causes of primary amenorrhea being ovarian failure (48.5%), congenital absence of the uterus and vagina (16.2%), GnRH deficiency (8.3%), and constitutional delay of puberty (6.0%). In the study of patients reported by Reindollar, 60% of patients had barriers to reproduction. Since its publication over 15 years ago, developments in assisted reproductive technologies have enabled pregnancy in many of these patients. Women with ovarian failure may gestate pregnancies from donated oocytes. Women with congenital absence of the uterus and vagina may have their fetuses carried in a surrogate uterus. During this period, the advances of molecular medicine have provided a better understanding of the etiologies of many of these disorders, including Turner's syndrome; 46,XY gonadal dysgenesis; 46,XX gonadal dysgenesis; hypogonadotropic hypogonadism; enzyme-deficient states; gonadotropin resistance; and androgen insensitivity. Contemporary issues related to these disorders involve information about molecular defects and outcome of pregnancies for patients previously considered sterile. Largely, this information has been extremely helpful and reassuring. However, the reported deaths of patients with Turner's syndrome who become pregnant by donor oocyte should remind us to proceed cautiously as new reproductive avenues are opened for these patients.     

Stimulation test of the adenohypophysis with arginine, gonadotropin-releasing hormone (GRH), and thyrotropin-releasing hormone (TRH) in 45, XO patients with Turner's syndrome (author's transl)

Pituitary stimulation tests with arginine, gonadotropin-releasing hormone (GRH) and thyrotropin-releasing hormone (TRH) were performed in five 45, XO patients with Turner's syndrome. Their ages ranged from 12--17 years. Serum levels of LH, FSH, PRL, HGH, and TSH were measured by RIA. The hypothalamo-pituitary system appeared normal in the patients with Turner's syndrome.