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In order to understand the role of leptin in the formation of secondary amenorrhea (SA) during puberty, 78 girls aged from 13 to 17 years with SA and 74 girls of the same age with regular menstrual cycle have been examined with the estimation of body mass index (BMI) and hormonal/metabolic state. The obtained data show a strong connection between leptin level, BMI and parameters of energetic metabolic state (insulin; HOMA index); regression analysis results indicated the participation of leptin in steroidogenesis. Odds ratio (OR) values indicated an important role of leptin in the formation of SA during body weight deficit and normal BMI. It has been found that various clinical types of SA have different patterns of leptin influence.

Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe that the two syndromes are different entities and we also believe that the limb defect in SPS is a "true" phocomelia while the limb defect in AARRS is an "apparent" phocomelia. "Apparent" phocomelia describes the most severe form of ulnar ray deficiency in which there is absent ulna with radio-humeral synostosis. "Apparent" phocomelia is diagnosed radiologically by three radiological features: the apparently single bone occupying the arm/forearm appears relatively long, the area of radio-humeral synostosis will have thicker cortex with or without slight angulation, and the lower end of the bone resembles the lower end of a radius and not a humerus. In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. We reviewed previously reported cases of AARRS and SPS to further delineate the differences between these two syndromes. We make the argument that these two syndromes are two different entities and hence require two different MIM entries., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Background: Secondary amenorrhea is a condition in which there is cessation of menses after at least one menstruation. It is a symptom of different diseases, such as hormonal disturbances which range from pituitary to ovarian origin, as well as chromosomal abnormalities. Knowledge of the distinct cause of secondary amenorrhea is of tremendous benefit for the management and monitoring of patients. In this study, we determine the chromosomal abnormalities in patients with secondary amenorrhea in Southwest Iran., Methods: We selected 94 patients with secondary amenorrhea who referred to our Cytogenetic Ward from 2004 until 2009. For karyotyping, peripheral blood lymphocyte cultures were set up by conventional technique., Results: In this study, 5.3% (n=5) of patients with secondary amenorrhea presented with chromosomal abnormalities, of which all contained an X element. The chromosomal abnormalities were: i) 45, X (n=1); ii) 47, XXX (n=1); iii) 45, X [13]/ 45, Xi(X)q[17] (n=1);  iv) 45, X[12]/46,X,+mar[12] (n=1); and v) 46,X,del(Xq)(q23q28) (n=1)., Conclusion: Our study revealed that some causes of secondary amenorrhea could be due to chromosomal abnormalities. Therefore, cytogenetic studies should be important tests in the evaluation of patients with secondary amenorrhea.

Amenorrhea is absence or abnormal cessation of the menses. Primary and secondary amenorrhea describe the occurrence of amenorrhea before and after menarche, respectively.

Objective: To estimate the incidence and type of chromosomal abnormalities in patients with primary and secondary amenorrhoea in Hong Kong., Design: Cytogenetic analysis and retrospective review., Setting: Clinical Genetic Service, Department of Health, Hong Kong., Patients: Case records of 549 patients with either primary (n=237) or secondary (n=312) amenorrhoea referred to the Clinical Genetic Service from 1 January 1991 to 30 April 2002 were reviewed. All these patients with amenorrhoea would have karyotyping (G banding) performed., Main Outcome Measures: Clinical characteristics of patients, and incidence and type of chromosomal abnormalities in the local population., Results: Sex chromosome anomaly was found in 24.5% and 9.9%, respectively, of women with primary and secondary amenorrhoea. In those with primary amenorrhoea, male karyotype was identified in 8.4% and X-chromosome abnormalities in 16.0%., Conclusion: The incidence of chromosomal abnormalities in women with amenorrhoea is similar to that reported in the literature. Chromosomal abnormalities are identified often enough to warrant karyotyping of all women with amenorrhoea.

Amenorrhea is the absence or abnormal cessation of the menses. Primary and secondary amenorrhea describe the occurrence of amenorrhea before and after menarche, respectively., (Copyright 2004 American Society for Reproductive Medicine)

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.

When menarche has failed to occur or menstrual cycles have stopped, the problem can be traced back to a functional or structural defect in the hypothalamus, pituitary, ovaries, or uterus. In most cases, the history is the principal source of diagnostic information. Necessary laboratory studies include one for the most common cause of amenorrhea: pregnancy.

According to the polish but not foreign manuals of gynecology the women with menarche provoked by hormones are qualified as the paraprimary amenorrhoic patients. Our study demonstrate that menarche in the lot of subsequently normally menstruating and delivered women was provoked by hormones. For that reason it was possible to qualified into the above mentioned paraprimary amenorrhoic group the only patients with permanently evoked menstruations. The numerous and heterogenous causes of the appearance amenorrhoea paraprimaria and secundaria are similar in both groups as well as serious disorders and results of the therapy. The clinical usefulness this classification is conditional upon the changes in qualification of the patients. The name amenorrhoea primaria would be reserved only for patients with permanently induced menstruation.

All women who enter menopause experience amenorrhea unless they receive hormone replacement therapy. In younger women, amenorrhea unrelated to pregnancy and lactation can be a distressing symptom. In addition to its psychologic morbidity, amenorrhea may be the manifesting feature of a wide array of anatomic and endocrine abnormalities. Amenorrhea results in impaired fertility. When estrogen levels are low, changes in mineral, glucose, and fat metabolism accompany amenorrhea. These metabolic changes affect bone and cardiovascular health, increasing the risk of osteoporosis and coronary heart disease in later life. Amenorrhea with hyperandrogenism, most commonly caused by the polycystic ovarian syndrome, may cause endometrial hyperplasia and increases the risk of endometrial adenocarcinoma. Because of the broad differential diagnosis of amenorrhea, establishing an accurate diagnosis can prove challenging. In this article, we outline one approach to the assessment of patients with amenorrhea and to the management of its common causes and consequences.

The pathogenesis of hypothalamic progestin-nonresponsive amenorrhea is unclear and this disease often fails to respond to treatment. The pulsatile patterns of diurnal and nocturnal secretion of serum LH as well as serum levels of melatonin were examined to improve the understanding of the pathogenesis and to develop strategies for the management of a severe type of hypothalamic amenorrhea. Four types of LH pulsatile patterns were observed: a) no pulse during the day or night (Group 1); b) more than 1 pulse only at night (Group 2); c) only 1 pulse during the day and more than 2 pulses at night (Group 3); and d) more than 2 pulses during the day and at night (Group 4). Serum estradiol was less than 30 pg/mL, and the serum PRL and PRL response to TRH did not differ among the four groups. The basal level and the pulse amplitude of LH increased successively from Group 1 to Group 4. The serum level of melatonin at night was noticeably increased in Group 1 and correlated negatively with the LH pulse frequency at night. After 6-month hormone replacement therapy with estrogen and progesterone, the rate of improvement in ovarian function were 0%, 33.3%, 57.1% and 67.0% in Groups 1, 2, 3, and 4, respectively. In 5 patients, the LH pulse pattern was re-examined at 6 months, the LH pulsatile pattern was changed from that of Group 1 to that of Group 4, with a decrease in serum concentrations of nocturnal melatonin, indicating improved ovarian function. In conclusion, classification of patients according to the LH secretion pattern is useful in establishing the severity of hypothalamic disturbance in hypothalamic progestin-nonresponsive amenorrhea and in predicting its prognosis; in addition nocturnal melatonin can be used as a marker for severer cases of hypothalamic amenorrhea.

Background: The association of secondary amenorrhea with extreme forms of substance use, weight control, and exercise in nonrepresentative samples raises questions as to whether adolescents in the general population who engage in these behaviors are at increased risk for secondary amenorrhea. We examined the prevalence and behavioral correlates of secondary amenorrhea in a county-wide high school population of 2544 girls aged 13 to 18., Methods: A survey questionnaire, which elicited menstrual history as well as weight history, weight control practices, level of exercise, and use of cigarettes, wine, and beer, was administered during school hours; absentees were also surveyed. The completion rate was 91%., Results: The 1-year prevalence of secondary amenorrhea was 8.5%. Secondary amenorrhea was associated with smoking one or more packs of cigarettes per day (adjusted relative risk [RRa] = 1.96, 1.21-3.10), with multiple binge-eating behaviors in combination with laxative use or self-induced vomiting (RRa = 4.17, 2.54-6.32), and with weight fluctuation due to weight control (RRa = 2.59, 1.33-4.79). There was no association between amenorrhea and alcohol consumption or exercise level., Conclusions: Estimates of attributable risk are provided and indicate that bulimic behaviors and cigarette smoking may result in a considerable excess of cases of secondary amenorrhea in an adolescent population.

The diagnostic approach to functional amenorrhea comprising a gestagen test, an LH-RH test, and the response to clomiphene as well as the recording of endogenous LH episodes allows a subclassification of the patients with regard to different therapeutic approaches. According to the degree of endogenous LH-RH deficiency, which is reflected by this diagnostic workup, a therapy with clomiphene alone, LH-RH combined with clomiphene, or LH-RH alone is effective. To avoid paradoxical effects any LH-RH substitution has to meet physiological conditions. Thus pulsatile and low-dose LH-RH administration of varied duration proved able to prime the hypothalamo-pituitary unit for either clomiphene or gonadal feedback signals resulting in ovulation and corpus luteum formation.

Hypothalamic-pituitary activity was investigated in 20 women with primary amenorrhoea, in whom gonadal dysgenesis and lower Müllerian duct anomalies had been excluded. There was no specific or uniform pattern of response to luteinising hormone-releasing hormone and no evidence of a common defect at pituitary-hypothalamic level to account for the absence of spontaneous menstruation. Six women had hyperprolactinaemia; of these five had radiological evidence of pituitary enlargement. The conventional distinction between "primary" and "secondary" amenorrhoea should be abandoned, and, in common with current practice for other endocrine glands, primary amenorrhoea should indicate an abnormality of the gonad itself and secondary amenorrhoea an abnormality that results from hypothalamic-pituitary dysfunction.

27 patients with secondary amenorrhoea for 6--20 months were investigated with a gonadorelin (GnRH-)test and a psychoanalytical exploration. Results, which were determined independently of each other, were then correlated. According to the gonadorelin and the gestagen test patients could be allocated to four groups: test group 1 = negative gestagen test, LH peak below 8 ng/ml, test group 2 = positive gestagen test, LH peak below 8 ng/ml, test group 3 = positive gestagen test, LH peak 8--20 ng/ml, test group 4 = positive gestagen test, LH peak 20--37 ng/ml. According to the psychoanalytical exploration two groups of patients could be differentiated. Patients of test group 1 and 2 showed psychosomatic disorders to a greater extent with pronounced associated somatic symptoms and predominantly retentive personality structures. Patients in test groups 3 and 4 showed predominantly associated mental symptoms accompanied by better insight into their own conflicts.

A practical approach to the diagnosis of amenorrhea is presented. By utilizing a flow-chart 410 patients with amenorrhea were categorized in the following groups: (i) polycystic ovarian disease; (ii) hypergonadotrophic amenorrhoea; (iii) hyperprolactinaemic amenorrhoea; (iv) normogonadotrophic amenorrhoea; and (v) hypergonadotrophic amenorrhoea. This approach helps the practising physician to come to a logical aetiological diagnosis in each category and saves time as well as money. This approach depends on clinical as well as appropriate laboratory examinations, most of which can be done by the private practitioner. Only a minority of patients need sophisticated and costly examinations.

77 amenorrhoeic women were classified as responding positively or negatively to clomiphene. The results of iterative LRH tests and studying feed-back reactions to steroid administration showed that the two collectives strictly correspond to groups I and II of the WHO classification of amenorrhoea. The LH response to the LRH test was significantly higher in group II than in group I, while there was no difference between the two groups in the FSH response. Oestradiol 17 beta was significantly higher in group II than in group I, but both groups showed a significant increase in E2 three hours after the LRH test. The possible mechanisms of LH production and pool formation, as well as FSH regulatory factors are discussed. This paper demonstrates that clomiphene appears to be ideally suited as a test substance for the classification of amenorrhoea according to its degree of severity.

Patients with secondary amenorrhea have been classified into 4 clincal groups. In order to further investigate these 4 groups, LH, FSH, and estradiol (E2) were measured at 15 min intervals for 4 h in 21 patients with secondary amenorrhea. Patients within each group had similar hormonal patterns, but there was a distinct variation among the groups. Three patients in group 1 (polycystic ovaries [PCO]) had elevated basal levels of only LH with marked irregular fluctuations. Seven patients in group II (hypothalamic-pituitary dysfunction) had normal basal levels of LH, FSH, and E2. Only LH showed oscillations of varying mahnitude and frequency. Eight patients in group III (hypothalamic-pituitary failure) had low or low-normal levels of LH, FSH, and low E2 with minimal or absent fluctuations. Three patients in group IV (ovarian failure) had high basal levels of FSH and LH and irregular fluctuations. This study confirmed the rationality of separating patients with secondary amenorrhea into 4 different groups. In addition, it was found that in group III patients, the total amount of LH secreted in a 4-hour period of time appears to be insufficient to stimulate E2 production from the ovary even when a single sample was found to be in the normal range.