Fertility in women of late reproductive age: the role of serum anti-Müllerian hormone (AMH) levels in its assessment.

INTRODUCTION: Fertility is referred to the capability for having offspring and can be evaluated by fertility rate. Women's fertility is strictly dependent on individual's age. The fertility peak occurs in the early 20s, and it starts to decline in the third and fourth decades of life (falling sharply after age 35). AIM: The aim of this work is to review the available data concerning fertility in women of late reproductive age, especially the role of serum anti-Müllerian hormone (AMH) levels. RESULTS: There are a lot of factors responsible for decrease of fertility in women of late reproductive age. These factors can be classified as oocyte-dependent (decrease in oocyte quantity and quality) and oocyte-independent (reproductive organs [uterus, oviducts] status and general health). Anti-Müllerian hormone (AMH) is a dimeric glycoprotein of the transforming growth factor-ß (TGF-ß) superfamily produced directly by the ovarian granulosa cells of secondary, preantral, and early antral follicles. It has been used as an ovarian reserve marker since 2002. Anti-Müllerian hormone seems to be the best endocrine marker for assessing the age-related decline of the ovarian pool in healthy women. Evaluation of AMH's predictive value in the naturally aging population is important for counseling women about reproductive planning as well as for treatment planning for women experiencing hormone-sensitive gynecological conditions such as endometriosis and fibroids. CONCLUSIONS: AMH can be considered as an indicator of fertility in late reproductive age women and pregnancy outcome in assisted reproductive technology cycles. AMH can strongly predict poor response in the controlled ovarian stimulation.

Premature ovarian insufficiency: the context of long-term effects.

PURPOSE: Premature ovarian insufficiency (POI) is defined as the cessation of the ovarian function before the age of 40 years. POI aetiology may be related to iatrogenic or endogenous factors and in many cases remains unclear. The aim of this review was to characterize the long-term consequences of POI. METHODS: The available literature regarding the long-term consequences of POI from MEDLINE has been reviewed. RESULTS: Lack of ovarian steroids synthesis has serious consequences for women's health. The short-term effects are similar to spontaneous menopause and refer mainly to the climacteric syndrome. In a longer perspective, POI affects a variety of aspects. It obviously and drastically reduces the chances for spontaneous pregnancies. Oestrogen loss leads also to urogenital atrophy. The most common urogenital symptoms include vaginal dryness, vaginal irritation and itching. The urogenital atrophy and hypoestrogenism interferes also with sexual functioning. Patients with POI are threatened by a decrease in bone mineral density (BMD). POI women also experience psychological distress and some studies have shown an increased risk of neurodegenerating diseases. Overall, POI women have a shortened life expectancy, mainly due to cardiovascular disease. Some studies have reported a reduced risk of breast cancer in this group of patients. CONCLUSIONS: In conclusion there are several well-characterized health risks in POI women. With every patient, an individualized approach is required to properly recognize and prevent these risks.

Bone mineral density in women with polycystic ovary syndrome.

PURPOSE: PCOS is a complex disorder and various features of this disorder may have great importance for bone metabolism. The aim of the study was to determine the relationship between existing hormonal disorders, and bone mineral density (BMD) in young women with PCOS. METHODS: 69 reproductive-aged PCOS women and 30 age-matched healthy controls were enrolled to the study women. In each individual we assessed the body mass index (BMI). We evaluated the serum concentrations of: gonadotropins, prolactin (PRL), estradiol (E2), dehydroepiandrosterone sulfate (DHEAS), testosterone (T), thyroid stimulating hormone (TSH), free thyroxine (fT4). We used the Homeostatic Model Assessment-Insulin Resistance Index (HOMA-IR) to diagnose insulin resistance. Bone mineral density in the lumbar spine was measured by dual-energy X-ray absorptiometry (DXA). RESULTS: The PCOS women had lower BMD values as compared to the controls (1.057 ± 0.1260 vs. 1.210 ± 0.1805 g/cm(2), p < 0.0002). In the analysis of PCOS patients according to BMI, only in the subgroup of the normal weight PCOS we find significantly lower BMD in comparison to controls (p = 0.0049). In patients with PCOS, BMD was positively correlated with insulin concentration and HOMA-IR. In the controls Z-score values were positively correlated with insulin concentration and HOMA-IR. CONCLUSIONS: The deleterious effect of estrogen deficiency on bones in PCOS is not balanced by androgen overproduction. Women with PCOS had significantly lower BMD of the lumbar spine compared to controls. Insulin seems to be one of the most important positive bone growth stimulators.

Functional hypothalamic amenorrhea and its influence on women's health.

INTRODUCTION: Functional hypothalamic amenorrhea (FHA) is one of the most common causes of secondary amenorrhea. There are three types of FHA: weight loss-related, stress-related, and exercise-related amenorrhea. FHA results from the aberrations in pulsatile gonadotropin-releasing hormone (GnRH) secretion, which in turn causes impairment of the gonadotropins (follicle-stimulating hormone and luteinizing hormone). The final consequences are complex hormonal changes manifested by profound hypoestrogenism. Additionally, these patients present mild hypercortisolemia, low serum insulin levels, low insulin-like growth factor 1 (IGF-1) and low total triiodothyronine. AIM: The aim of this work is to review the available data concerning the effects of FHA on different aspects of women's health. RESULTS: Functional hypothalamic amenorrhea is related to profound impairment of reproductive functions including anovulation and infertility. Women's health in this disorder is disturbed in several aspects including the skeletal system, cardiovascular system, and mental problems. Patients manifest a decrease in bone mass density, which is related to an increase in fracture risk. Therefore, osteopenia and osteoporosis are the main long-term complications of FHA. Cardiovascular complications include endothelial dysfunction and abnormal changes in the lipid profile. FHA patients present significantly higher depression and anxiety and also sexual problems compared to healthy subjects. CONCLUSIONS: FHA patients should be carefully diagnosed and properly managed to prevent both short- and long-term medical consequences.

Cushing's syndrome in pregnancy: a case report and mini review of the literature.

Adrenal diseases in pregnant women are diagnosed relatively rarely. The main cause of hypercortisolemia during pregnancy is Cushing's syndrome related to adrenal adenoma. It is important to diagnose Cushing's syndrome in pregnant women because it can lead to significant maternal and foetal complications and morbidity. However, due to physiological endocrine changes and symptoms in pregnant women the diagnosis of this disorder can be a challenge. One current case describes a 38-year-old pregnant woman with hypertension, oedema and an adrenal tumour. At the beginning, Conn syndrome was suspected, but after careful analysis Cushing's syndrome (with an adenoma of the right adrenal gland) was diagnosed. After delivery and 5 weeks of pharmacological treatment the patient underwent right side adrenalectomy by laparoscopy.

Genetics of premature ovarian failure.

Premature ovarian failure (POF) is defined as a primary ovarian insufficiency before the age of 40 years. It is characterized by a cessation of menstruation for at least 4 months associated with the elevation of serum follicle-stimulating hormone (FSH) concentration (FSH>40 IU/L). It affects approximately 1% of women under 40. Known causes of premature ovarian failure can be classified as genetic, autoimmune, environmental, iatrogenic (after chemotherapy, radiations, surgery) and idiopathic. It is estimated that up to 40% of POF can be attributed to genetic causes. Classification of genetic causes can be different. We present here review of genetic causes of POF based on classification : non-syndromic POF and syndromic causes of POF. The list of the candidate genes related to POF is still increasing. Elucidation of genetic determination of POF has a critical significance for identification the possible marker of POF or possible new kind of POF therapy.

Serum levels of tryptophan, 5-hydroxytryptophan and serotonin in patients affected with different forms of amenorrhea.

Tryptophan (Trp) is present in the serum, partly bound to albumine and in the free form. The unbound portion of circulating tryptophan has the property of crossing the hematoencephalic barrier and being converted within the brain into serotonin (5-HT) through the enzymatic processes of hydroxylation and decarboxylation. The serotoninergic system plays an important role in neuroendocrine control of reproductive hormone secretion, and in particular, it may influence GnRH pulsatility, a function essential for reproductive processes. In this study, we analysed serum levels of tryptophan, serotonin and 5-hydroxytryptophan (5-HTP) in women with three different forms of amenorrhea: 16 patients were diagnosed with anorexia nervosa, 60 patients with functional hypothalamic amenorrhea, and 14 patients with hyperprolactinemia. Data were compared with those of a group of 25 healthy women. Serum Trp levels were significantly (P ≤ 0.05) lower in the anorexic (11.64 ± 0.53 µg/ml, mean ± S.E.) than in the control (12.98 ± 0.37 µg/ml) groups. In addition, in the anorexic group a statistical dispersion of Trp values was shown indicating a bimodal data distribution suggesting the existence of two different subgroups of patients. Regarding 5-HTP, an increase of its serum level was observed in all the groups with amenorrhea with the highest value in hyperprolactinemic patients. On the contrary, no statistical differences in serum 5-HT levels among the four analyzed groups were observed.This study shows that women affected by various forms of amenorrhea present an altered metabolism of tryptophan via serotonin and, in particular, markedly high differences are observed between the two subgroups of anorexic patients.

The beneficial hemodynamic effects of selective patent vertical vein following repair of obstructed total anomalous pulmonary venous drainage in infants.

OBJECTIVES: Postoperative low cardiac output may persist after repair of total anomalous pulmonary venous drainage (TAPVD) because of a relatively small and non-compliant left atrium and left ventricle. We examined the effects of selective vertical vein patency on postoperative hemodynamics. METHODS: Thirty-four patients less than 3 months of age with TAPVD were operated from July 1993 to June 2000. The mean age at operation was 21+/-8 days (range, 3-62 days) and the mean weight was 3+/-0.2 kg (range, 2-4.1 kg). Supracardiac type drainage was found in 12 (35%), cardiac in three (9%), mixed in one (3%), and infracardiac in 18 (53%) patients. Twenty-two patients (65%) had obstructed venous drainage. All operations were performed with deep hypothermic circulatory arrest. Supracardiac, mixed and infracardiac types were repaired through a posterior approach, whereas, in the cardiac type, the coronary sinus was unroofed and the atrial septal defect was patched. The decision whether to keep the vertical vein open was made at the end of the operation and was based on the hemodynamic state of the patient. RESULTS: There were no operative deaths. The suture on the vertical vein was released in 22 patients who had obstructed pulmonary venous drainage (infracardiac type, n=18; supracardiac type, n=3; and mixed type, n=1), resulting in a significant drop in the left atrial pressure from 19+/-2 to 12+/-2 mmHg (P<0.05), and in the mean pulmonary artery pressure from 42+/-6 to 35+/-3 mmHg (P<0.05), associated with an immediate increase in the mean arterial blood pressure from a mean of 46+/-3 to 60+/-4 mmHg (P<0.05). During a mean follow-up of 38+/-6 months (range, 8-71 months), there were no late deaths. Follow-up, two-dimensional echocardiography with Doppler studies demonstrated good left ventricular function and trivial or no left to right shunt through the vertical vein in those patients in whom the snare was released. CONCLUSIONS: Maintaining the vertical vein patent in a selective group of patients with infracardiac total anomalous venous drainage contributes to a favorable outcome following surgery.

Surgical management of tetralogy of Fallot in the first year of life.

BACKGROUND: The surgical approach to tetralogy of Fallot (TOF) continues to evolve and now many centers favor early repair for TOF. METHODS: Our experience includes 82 consecutive patients less than 1 year old with TOF (n = 74) and TOF with pulmonary atresia (n = 8) who were operated on between January 1992 and March 1998. Mean age at repair was 5.2 +/- 1.2 months and mean weight was 4.5 +/- 0.4 kg. Seven patients (anomalous left anterior descending artery [n = 1], pulmonary atresia with hypoplastic pulmonary arteries [n = 6]), underwent palliative procedures in the neonatal period followed by complete repair. Forty-nine patients (59%) were symptomatic (severe cyanosis or hypoxic spells), and 33 patients (41%) were asymptomatic. A combined transatrial-transpulmonary approach was employed in 28 patients (34%), and transannular patch or conduit for reconstruction of the right ventricular outflow tract (RVOT) was required in 54 patients (66%). The mean Nakata index was 160 +/- 25 mm2/m2. RESULTS: There were no hospital deaths. Mean post-repair peak right ventricular/systemic pressure ratio was 0.48 +/- 0.1. There were no late deaths or reoperations during a mean follow-up of 23 +/- 5 months. All patients are currently asymptomatic and in New York Heart Association class 1. Postoperative evaluation by two-dimensional and Doppler echocardiography or cardiac catheterization showed minimal pulmonary artery stenosis with a mean pressure gradient of 15 +/- 6 mm Hg across the RVOT. CONCLUSIONS: Our experience suggests that early repair of TOF can yield excellent results and initial palliation does not preclude early complete repair.

Low-dose methotrexate as a steroid-sparing agent in a child with Takayasu's arteritis.

Takayasu's arteritis (TA) is a chronic inflammatory arteriopathy affecting the large vessels and has been described predominantly in young adult women. In children it presents as an aggressive disease usually requiring chronic corticosteroid therapy. At present, low dose oral methotrexate (MTX) appears to be an effective steroid-sparing agent in adult patients with active TA. We report a 4-year-old child with Takayasu's arteritis who was initially placed on oral prednisone (2 mg/kg/day) therapy. Three months later, low-dose oral MTX (10 mg/m2/week) was added. Prednisone was successfully tapered over the following year to 0.2 mg/kg every other day. A repeat angiography following 12 months of therapy revealed a dramatic improvement of the vascular lesions. No toxicity was observed with MTX therapy. In conclusion, low-dose oral MTX appeared to be an efficient, safe and steroid-sparing agent in the treatment of a young child with TA.

Anti-Ro/SS-A and anti-La/SS-B antibodies associated with cardiac involvement in childhood systemic lupus erythematosus.

OBJECTIVES: To determine the frequency and type of cardiac manifestations in children with systemic lupus erythematosus (SLE) and investigate whether cardiac involvement of SLE in children was associated with any autoantibody pattern. METHODS: Retrospective analysis of the medical records of all children with SLE (31 patients) seen between January 1984 and January 1994 by the paediatric rheumatology service at Children's Hospital in New Orleans. All patients satisfied the American College of Rheumatology criteria for the diagnosis of SLE. Paediatric SLE patients with cardiac manifestations based on echocardiogram were identified. Autoantibody tests at diagnosis were identified retrospectively by chart review, and the correlation between autoantibodies and cardiac involvement was analysed using the two tailed Fisher's exact test. RESULTS: Thirteen (42%) of 31 SLE patients had cardiac manifestations of SLE. Seven (22%) had pericarditis without myocarditis, five (16%) had pericarditis and myocarditis, and one (3%) had myocarditis without pericarditis. Two patients (6%) with pericarditis had cardiac tamponade. Cardiac manifestations of SLE usually occurred at the time of diagnosis or within six months. Anti-Ro/SS-A antibodies were present in serum samples of nine of 11 (82%) patients with cardiac involvement and in five of 15 (33%) without cardiac involvement (p = 0.02). Anti-La/SS-B antibodies were present in serum samples of six of 10 (60%) patients with cardiac involvement and two of 15 (13%) without cardiac involvement (p = 0.03). Anti-Sm and anti-RNP antibodies showed no correlation with the presence of cardiac disease. CONCLUSIONS: Cardiac involvement in our paediatric SLE population was frequently found and correlated significantly with the presence of anti-Ro/SS-A and anti-La/SS-B antibodies.

[The first experience in diagnosis and rehabiliation in patients with cochlear implant "Nuclear Mini System 22"]. / Pierwsze doswiadczenia diagnostyczne i rehabilitacyjne u chorych przed i po zalozeniu wszczepu slimakowego "nucleus mini system 22".

The first qualification for cochlear implant "Nucleus" was performed on the basis of audiological tests. Next stage was conversation with a patient and his family about motivation of longterm rehabilitation. Then the two very important investigations were carried out--the computer tomography which showed inner ear structure, and electric promotory test. In rehabilitation process original "Nucleus" partially modified and Polish linguistic articulation lists were used.

[The Poznan program of the treatment of deafness by multichannel cochlear implants]. / Poznanski program leczenia gluchoty przy uzyciu wielokanalowego wszczepu slimakowego.

The authors presented 5 deaf patients with postlingual deafness and application of cochlear implant "Nucleus Mini System 22". In details operative technics and postoperative proceeding were described as well as rehabilitation results in 3-6 months after operation. The authors consider, that in adults with postlingual deafness, application of cochlear implants were giving very good effects.

Clinico-pathological conference: a preterm infant with multiple congenital anomalies.

A preterm female infant (28 weeks; 880 g) presented with bilateral ectrodactyly of the feet, small cleft palate, esophageal atresia and T-E fistula, multivalvular dysplasia and VSD, thrombocytopenia, and other minor anomalies. Cytogenetic analysis showed trisomy 18.

Diagnosis of double aortic arch by cross sectional echocardiography with Doppler colour flow mapping.

A case of double aortic arch in a 15 month old boy was diagnosed by cross sectional echocardiography supplemented by Doppler colour flow mapping. These examinations showed two very large vessels communicating with the aorta; the demonstration of anterograde flow in one vessel and retrograde flow in the other enabled a definite diagnosis of Edwards type IA double aortic arch to be made.

Heart disease in a total population of children: the Bogalusa Heart Study.

A cross-sectional survey of a total semirural biracial population of children was conducted to determine the prevalence and types of cardiac disease. Of 4,074 children examined, 146 were thought to have significant cardiac murmurs. One hundred thirteen of these participated in a follow-up study in which they received a physical examination by two adult cardiologists and one pediatric cardiologist, a chest roentgenogram, and an electrocardiogram. An attempt at a consensus concerning the diagnosis was made by subsequent discussions among the physicians. The discussions were repeated in 33 cases after a phonocardiogram and/or an echocardiogram were done. In 20 children, cardiac disease was diagnosed by at least two cardiologists. Supplementing this with information from hospital records on some of the children and data from a previous study, cardiac abnormalities were diagnosed in 25 children from the total population (0.6%). A disproportionately greater number of black children and boys were affected. Thirteen children had congenital heart disease, five had mitral valve prolapse, and only two had rheumatic heart disease. The prevalence of mitral valve prolapse was probably underestimated in this study.