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Aim. To determine genealogical and cytogenetic features in girls aged 12-17 years with secondary amenorrhea. Methods. The analysis of pedigrees was conducted in 25 families of girls with secondary amenorrhea (main group) and in 25 families of healthy girls in the laboratory of medical genetics of SI "ICAHC NAMS". Cytogenetic analysis was carried out in the blood lymphocytes of the girls of the main and control groups in vitro. The control group consisted of 25 healthy peer girls with a regular menstrual cycle without somatic pathology. The data obtained were analyzed statistically using the Student's t-test in Excel programs. Results. The hereditary burden on non-inflammatory (hormone-dependent) gynecological diseases was found in 60.0% of families, in 86.6% of cases – along the maternal line, in 6.7% – along the paternal line, in 6.7% – on both lines at the same time; 40.0% of girls had no hereditary burden. The total incidence of gynecological (non-inflammatory) diseases among relatives of three degrees of kinship was 13.6%, which was almost three times higher than the frequency in relatives of healthy girls (5.1%, p < 0.001). Cytogenetic analysis conducted in girls of the main group showed an increase in both the overall level of chromosomal disorders (6.2%), and their individual types (3.2%. 3.0%, 1.56%) compared to the frequency in healthy girls. Conclusions. Family accumulation of gynecological (non-inflammatory) diseases in the pedigree of girls with secondary amenorrhea has been established. Cytogenetic features in the blood lymphocytes of sick girls are revealed compared to healthy peers. Keywords: girls, pedigrees, cytogenetic indices, secondary amenorrhea.

espanolEl fallo ovarico prematuro (FOP) es un defecto ovarico primario caracterizado por la ausencia de menarquia (amenorrea primaria) o agotamiento prematuro de los foliculos ovaricos antes de los 40 anos (amenorrea secundaria). Como en el caso de menopausia fisiologica, FOP se presenta por manifestaciones tipicas del climaterio: infertilidad asociado con palpitaciones, intolerancia al calor, sofocos, ansiedad, depresion, fatiga. Esta condicion es bioquimicamente caracterizada por niveles bajos de hormonas gonadales (estrogenos e inhibinas) y altos niveles de gonadotropinas (LH y FSH) (amenorrea hipergonadotropica). Mas alla de la infertilidad, los defectos hormonales pueden causar graves consecuencias neurologicas, metabolicas o cardiovasculares y conducir a la aparicion temprana de osteoporosis. La heterogeneidad de FOP tambien se refleja en la variedad de posibles causas, que incluyen autoinmunidad, farmacos toxicos y defectos geneticos. Esta afeccion tiene un fuerte componente genetico. Las anomalias del cromosoma X (por ejemplo, el sindrome de Turner) representan las principales causa de amenorrea primaria asociada con disgenesia ovarica. A pesar de la descripcion de varios genes candidatos, la causa de FOP permanece indeterminada en la gran mayoria de los casos. El manejo incluye la sustitucion del defecto hormonal por preparaciones de estrogeno / progestina. El La unica solucion actualmente disponible para el defecto de fertilidad en mujeres con reserva folicular ausente es donacion de ovulos. EnglishPremature ovarian failure (PFO) is a primary ovarian defect characterized by the absence of menarche (primary amenorrhea) or premature depletion of the ovarian follicles before age 40 (secondary amenorrhea). As in the case of physiological menopause, FOP is presented by typical manifestations of the climacteric: infertility associated with palpitations, intolerance to heat, hot flashes, anxiety, depression, fatigue. This condition is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Beyond infertility, hormonal defects can cause serious neurological, metabolic or cardiovascular consequences and lead to the early onset of osteoporosis. The heterogeneity of FOP is also reflected in the variety of possible causes, including autoimmunity, toxic drugs, and genetic defects. This condition has a strong genetic component. X chromosome abnormalities (eg, Turner syndrome) represent the leading cause of primary amenorrhea associated with ovarian dysgenesis. Despite the description of several candidate genes, the cause of FOP remains undetermined in the vast majority of cases. Management includes replacement of the hormonal defect with estrogen / progestin preparations. The only solution currently available for the fertility defect in women with absent follicular reserve is egg donation.

This is a pictorial review on the radiological approach to patients with amenorrhea using a level-based framework. The prevalence of amenorrhea is 3 to 4% with wide-ranging causes involving multiple clinical disciplines. Normal menstruation depends on complex coordinated hormonal functions of the hypothalamic-pituitary-ovarian axis exerting its effect on an intact uterine end-organ and outflow tract. A disruption of any of these factors may result in amenorrhea. Categorizing the causes of primary and secondary amenorrhea into uterine, ovarian/gonadal, and intracranial levels provides a logical framework for its evaluation. A systematic level-based approach by targeted ultrasound of the pelvic structures is suggested, with different aims in primary versus secondary amenorrhea. Pelvic sonographic findings of various conditions within the uterine and ovarian/gonadal levels are illustrated. Conditions due to an intracranial cause result in downstream effects on the uterus and ovaries and can often be suspected based on a combination of clinical assessment, ultrasound findings, and laboratory investigations. By correlating pelvic ultrasound findings with underlying pathology, the clinical radiologist is able to provide useful diagnostic information in the management of these patients.

The abnormal menstrual flow indicates heavy menses and scanty menstrual flow, both in amount and duration with associated symptom of pain in lower abdomen or back or vagina and can be counted as Vataja Rajodushti, Kshinartava and Artavakshaya in Ayurveda classics. Aims and objectives: In Ayurvedic classic, Uttarabasti is indicated in Yonivyapada (gynecological problems), Artava nasha (secondary amenorrhea), Artava Dosha (menstrual disorder) etc. Vatadosha is the prime cause of Yoni vyapada. Uttara basti has Vatashamak as well as Ropana and Shodhana property. Sahacharadi taila is indicated in Vata disorders including oligomenorrhea. Shatapushpa (Anethum sowa Kurz.) Churna is Arthavajanan. Materials and methods: From OPD 30 patients were selected randomly and divided into 15 patients in each Group A and Group B. Group A was given Shatapushpa churna orally 3times per day for 3 months and Sahacharadi taila Uttaravasti for 3 consecutive cycles. Group B was given placebo. Results were analysed by statistical analysis. Results and conclusion: Properties of Shatapushpa churna, Saacharadi taila with Uttarbasti might improve menstrual irregularities and bring down to normalcy.

Aim of the work: To detect the frequency of secondary amenorrhea in a cohort of Egyptian systemic lupus erythematosus (SLE) patients and to identify potentially related key-players. Patients and methods: The medical records of 140 adult SLE patients above 18 and less than 40 years were revised regarding clinical characteristics, immunological features and medications received. The SLE disease activity index (SLEDAI) and damage index (SLICC-DI) were recorded. Patients were divided into two groups: patients who developed secondary amenorrhea and those having normal menstrual cycles. Results: The mean age of the patients was 26.8 ± 5.7 years, the median disease duration was 3.5 years. The patients had renal involvement in 69.3%, neuropsychiatric in 23.6% and cardiac in 37.9%. Cyclophosphamide (CYC) was received by 52.1% and steroids by 139 patients. Secondary amenorrhea was found in 44 patients (31.4%); 36 (81.8%) of them were ≤32 years old. Patients with secondary amenorrhea had a higher frequency of positive anti-double stranded deoxyribonucleic acid (ds-DNA) antibodies (75% vs 50%; p = 0.04) and a shorter disease duration (median 2 years vs 4.5 years; p = 0.005). Lupus nephritis, renal failure, neuropsychiatric manifestations, cardiac involvement and receiving CYC and high-dose steroids tended to be more frequent in those with secondary amenorrhea compared to those without. The median SLICC-DI was higher in those with amenorrhea compared to those without (p = 0.2) Conclusion: Cyclophosphamide is not the only key-player for the development of secondary amenorrhea in SLE; other factors as the shorter disease duration, presence of autoantibodies and major organ involvements may be implicated. Keywords: Systemic lupus erythematosus, Secondary amenorrhea, Egyptian, Disease duration, Anti ds-DNA

Primary ovarian insufficiency (POI) is one of the major causes of female infertility associated with the premature loss of ovarian function in about 3.7% of women before the age of 40. This disorder is highly heterogeneous and can manifest with a wide range of clinical phenotypes, ranging from ovarian dysgenesis and primary amenorrhea to post-pubertal secondary amenorrhea, with elevated serum gonadotropins and hypoestrogenism. The ovarian defect still remains idiopathic in some cases; however, a strong genetic component has been demonstrated by the next-generation sequencing (NGS) approach of familiar and sporadic POI cases. As recent evidence suggested an oligogenic architecture for POI, we developed a target NGS panel with 295 genes including known candidates and novel genetic determinants potentially involved in POI pathogenesis. Sixty-four patients with early onset POI (range: 10–25 years) of our cohort have been screened with 90% of target coverage at 50×. Here, we report 48 analyzed patients with at least one genetic variant (75%) in the selected candidate genes. In particular, we found the following: 11/64 patients (17%) with two variants, 9/64 (14%) with three variants, 9/64 (14%) with four variants, 3/64 (5%) with five variants, and 2/64 (3%) with six variants. The most severe phenotypes were associated with either the major number of variations or a worse prediction in pathogenicity of variants. Bioinformatic gene ontology analysis identified the following major pathways likely affected by gene variants: 1) cell cycle, meiosis, and DNA repair; 2) extracellular matrix remodeling; 3) reproduction; 4) cell metabolism; 5) cell proliferation; 6) calcium homeostasis; 7) NOTCH signaling; 8) signal transduction; 9) WNT signaling; 10) cell death; and 11) ubiquitin modifications. Consistently, the identified pathways have been described in other studies dissecting the mechanisms of folliculogenesis in animal models of altered fertility. In conclusion, our results contribute to define POI as an oligogenic disease and suggest novel candidates to be investigated in patients with POI.

We present a rare case of a pituitary tuberculoma masquerading as pituitary adenoma with pituitary apoplexy-like presentation in a 31-year-old female, who had symptoms suggestive of acute secondary adrenal insufficiency with secondary amenorrhea. After initial evaluation which was suggestive of pituitary adenoma, she underwent endoscopic transnasal pituitary tumor excision. Histopathology revealed features of pituitary tuberculoma. She was subsequently started on four drug anti-tubercular therapy and is on follow-up. Although uncommon, tuberculomas, especially in the pituitary gland, are known for behaving like pituitary adenomas, by impairment of pituitary hormonal function and by exerting pressure effects on surrounding vital intracranial structures. Diagnostic challenges, treatment modality, and literature review are presented in this case report. Pituitary tuberculoma even though a rare entity should be borne in mind as a differential diagnosis in a patient manifesting with pituitary apoplexy-like syndrome.

APS (autoimmune polyglandular syndrome) is defined as the coexistence of at least two kinds of endocrine autoimmune diseases. APS type 3 comprises autoimmune thyroid diseases and other autoimmune diseases but does not involve autoimmune Addison’s disease. So far, APS-3 combined with isolated gonadotropin-releasing hormone (GnRH) reduction caused by the suspected autoimmune hypothalamic disease has not been reported. We recently received a 43-year-old woman with a one-year history of Graves’ disease (GD) and a four-month history of type 1 diabetes presented with hyperthyroidism and hyperglycemia. After the GnRH stimulation test, she was diagnosed with secondary amenorrhea attributed to suspected autoimmune Hypothalamitis and APS type 3 associated with Graves’ disease and Latent Autoimmune Diabetes (LADA). According to this case, the hypothalamus cannot be spared from the general autoimmune process. It is recommended to carry out the GnRH stimulation test when encountering APS patients combined with secondary amenorrhea.

Perforated transverse vaginal septum (TVS) leading to secondary amenorrhea in unmarried girl is a rare entity. A 20 years old unmarried girl presented to gynaecology OPD with history of amenorrhea since one month and 12 days, pain lower abdomen with swelling since 7 days and difficulty in voiding urine since 2 days. She had history of regular menstrual cycles since the age of 13 years. Local examination revealed pinkish mass bulging through introitus. MRI showed vaginal outlet obstruction with haematocolpos and haematometra. Diagnosis was confirmed and case was successfully managed during examination under anaesthesia. This case highlights the evolution from perforated transverse low vaginal septum with normal and regular menstrual cycles to a complete septum (due to retained menstrual blood and tissue debris) which leads to secondary amenorrhea.

Purpose A clinical case presenting secondary amenorrhea accompanied by an adrenal adenoma and hyperprogesteronemia is described in this study. Methods Selective catheterization and sampling of adrenal and ovarian veins were performed. Results The source of hyperprogesteronemia was located in the right adrenal gland. A progesterone-producing tumor in the right adrenal gland was diagnosed and removed. Twenty-six days after tumor resection, menstruation occurred. Conclusions Progesterone-producing tumors should be considered with the presence of an adrenal mass and hyperprogesteronemia. Combined adrenal and ovarian venous sampling may help to identify the source of progesterone secretion.

This study was conducted in the city of Tikrit – Salaha-Din General Hospital for the period from November 2017 to June 2018 to compare the effects of dysmenorrhea and secondary amenorrhea in blood glucose concentrations, cholesterol, and some hormones FSH, LH, PRL, Progesterone, Estrogen, and Testosterone in women in Tikrit. Salahal-Den government the number of women with dysmenorrhea, secondary amenorrhea, and healthy (30) in all women group respectively. 5ml blood was withdrawn from all women in the study and the serum was separated by common laboratory methods. The results showed no significant differences between all study groups in blood glucose concentrations, while women with secondary amenorrhea were significantly higher (P≤0.05) in cholesterol concentrations compared to the healthy group and significantly higher (P≤0.01) for women with secondary amenorrhea in FSH, LH, PRL, Progesterone, E2, Testosterone compared to the group of women with dysmenorrhea and the group of healthy. The group of women with dysmenorrhea was significantly higher (P≤0.05) in Progesterone, Testosterone concentrations comported with the healthy women group and Women with dysmenorrhea. We conclusion that secondary amenorrhea was a more effective in increasing concentrations of hormones that prevent the occurrence of ovulation compared with the dysmenorrhea effects. http://dx.doi.org/10.25130/tjps.24.2019.028

This article provides an approach to amenorrhea and is intended for pre-clinical and clerkship medical students. Primary amenorrhea refers to the absence of menarche by 15 years or 3 years post thelarche while secondary amenorrhea is the cessation of menses for 3 months in women with a previously regular cycle or for 6 months in women with previously irregular menses. While amenorrhea can be physiological it can also reflect an anatomical or more complex hormonal problem that students must learn to identify and investigate.

Highlights • Vesicouterine fistula is pathological communication between the bladder and uterus or cervix. • Symptoms of VUF were secondary amenorrhea and cyclic hematuria with history of previous cesarean section (concluded as Youssef’s syndrome). • Surgical approach is contemplated as definitive management of the VUF following caesarean section. • A group of women was able to have normal period after fistula repair., Vesicouterine fistula (VUF) is an abnormal communication between the bladder and uterus, occurring 1–4% of all urogenital fistulas. Diagnosis is still a challenge because symptoms may appear late or fistula may be missed even after repeated examination. A 37-year old woman who has two children born through caesarean section complained of the absence of menstruation for the past three years. At the same time point, she experienced cyclic haematuria and amenorrhea. The diagnosis was made through ultrasonography, cystoscopy and hysteroscopy. She was then managed with laparoscopic bladder fistula repair continued with total laparoscopic hysterectomy. The VUF can present as an undesirable consequence of caesarean section.

Intrauterine adhesions have been recognized as a cause of secondary amenorrhea since the end of the nineteenth century [1].

Secondary amenorrhea is not uncommon in the adolescent female population. There are multiple etiologies to consider, and a comprehensive evaluation is often pursued. Sometimes, however, despite a thorough workup, the diagnosis remains unclear. Here, we report an unusual cause of secondary amenorrhea in a 15-year-old girl. Our patient presented with secondary amenorrhea after a 4-year history of regular menstrual cycles. Her evaluation was notable for very low FSH and low estradiol but normal LH; pregnancy, adrenal, thyroid, prolactin studies, and brain magnetic resonance imaging scan did not reveal a cause of her amenorrhea. Her transabdominal ultrasound showed an enlarged right ovary, initially suggestive of a hemorrhagic cyst. Inhibin A and B were measured because of the persistently low FSH; these were found to be very elevated, concerning for an inhibin-producing tumor. The patient had surgical removal of her right ovary; pathology revealed a juvenile granulosa-cell tumor. Postoperatively, the patient had normalization of serum inhibin A and B and resumption of normal menstrual cycles. This report illustrates that careful consideration of laboratory findings and other studies is essential for correctly identifying the underlying cause of secondary amenorrhea, particularly when the results are not consistent with common causes of this condition.

Pituitary insufficiency is an uncommon disorder. The most common cause is compression due to a pituitary mass. Other causes include inflammatory damage and vascular injury like postpartum pituitary apoplexy. Postpartum pituitary apoplexy, also known as Sheehan’s syndrome, leads to hormonal deficiencies and causes postpartum amenorrhea, lactational failure, chronic hyponatremia, hypoglycemia, and loss of secondary sexual characters. Here we are discussing the clinical course of 15 female patients of panhypopituitarism. Most of them had a history of postpartum hemorrhage. Knowledge about this entity is essential as it is a treatable condition and ignorance could prove to be fatal. How to cite this article Bhushan D, Agarwal M, Shukla RK. Hypopituitarism: A Rare but Often Neglected Condition. Indian J Crit Care Med 2020;24(5):350–352.

Secondary amenorrhea, defined as at least 3 months without a period, can be attributed to disruption of the normal hypothalamic–pituitary–gonadal axis. This teaching script provides a clear and systematic approach to evaluating women with secondary amenorrhea with a focus on developing the differential diagnosis and rational diagnostic testing algorithm.

Adrenal myelolipoma with hyperandrogenemia is extremely rare. We report a case of a 26-year-old Chinese female with schizophrenia, who presented with a hormonally active tumor causing hyperandrogenemia. The mass was found by computerized tomography when she had her gynecologic examination for secondary amenorrhea, and it was confirmed to be an adrenal myelolipoma after a histopathological study. She was referred for a left adrenal laparoscopic excision, and the size of adrenal myelolipoma was found to be more than 10 cm. We report this case because large adrenal myelolipomas with hyperandrogenemia and schizophrenia are rare, and adrenal myelolipoma associated with hyperandrogenemia might be determined by the enzymes involved in the production of hormones.

A pituitary abscess is a rare intrasellar infection. Correct identification can be challenging preoperatively given its non-specific symptoms and imaging findings. We report a case of a young woman presenting with secondary amenorrhea, visual field deficits and a 2.6 cm pituitary lesion diagnosed to be a craniopharyngioma. A concomitant unexpected pituitary abscess was diagnosed intraoperatively without associated meningeal symptoms.

Precocious puberty may be gonadotropin dependent or gonadotropin independent and due to a myriad of causes including syndromic association. McCune-Albright syndrome (MAS) is a rare disorder, characterized by the triad of precocious puberty, polyostotic fibrous dysplasia of bone and café-au-lait macules. Here, we describe a case of childhood onset gonadotropin independent precocious puberty who presented at 19 years of age with secondary amenorrhea. On detailed evaluation, she was found to have multiple café au lait spots and polyostotic fibrous dysplasia and diagnosis of MAS were made. Typically, the lesions of fibrous dysplasia are most active during childhood and adolescence, tending to become quiescent in adult life, new active lesions being rare in adults. In our case, despite fibrous dysplasia being asymptomatic on presentation, there were multiple active polyostotic lesions with bilateral encroachment of optic foramina, which is rare at this age. This case highlights the fact that careful examination for syndromic features and periodic follow up are important in all cases of precocious puberty.

The treatment of persistent uterine bleeding in those patients who identify as transmasculine or nonbinary is often straightforward, but can be difficult in a subset of patients. This article reviews the physiology of the normal menstrual cycle and the hormonal influences on the endometrium, and then explores options for the treatment of persistent bleeding for people both already on testosterone and for those who are either not ready for or who do not desire testosterone.

Disruptions in the menstrual cycle are a common complaint in primary care and women's health. Irregular or absent menstrual periods should trigger an evaluation to identify the root cause. This article discusses secondary amenorrhea and provides a systematic approach to its diagnostic evaluation, with referral considerations.

Hyperprolactinemia is a frequent condition in clinical practice, responsible for 20–25% of secondary amenorrhea cases. We performed an electronic survey among members of the Brazilian Society of Metabolism and Endocrinology (SBEM) and the Brazilian Federation of Association of Gynecology and Obstetrics (FEBRASGO) to assess diagnostic and therapeutic preferences for management of hyperprolactinemia. Electronic addresses of SBEM and FEBRASGO members were obtained from the directories of these societies, and these members were invited, through electronic messages (e-mail), to answer an online questionnaire that included 10 questions about the treatment of micro and macroprolactinomas, maximum dose of dopamine agonist, how to exclude primary hypothyroidism and macroprolactinemia, hyperprolactinemia and pregnancy. We received responses to the questionnaire by e-mail from 521 SBEM members and 233 FEBRASGO members. The results of this survey demonstrate that there are many area of agreement between SBEM and FEBRASGO members and most of their responses follow the latest Endocrine Society Guideline. Relative to a survey performed several years ago, our findings show that SBEM members have incorporated some of latest recommendations in this field. The principal issues of concern for both groups are duration of dopamine agonist treatment for patients with microprolactinoma and dopamine agonist withdrawal during pregnancy.

Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF). BPES is of two types, type I and type II. Type I is associated with POF along with eyelid malformations, while Type 2 has only eyelid malformations. Here, we report a family of BPES, in whom two sisters presented with secondary amenorrhea. On eye examination, they have blepharophimosis, ptosis, epicanthus inversus and telecanthus. Investigations revealed hypergonadotropic hypogonadism. Their father also has similar eye manifestations. Diagnosis of BPES type I was made and both were started on hormone replacement therapy. To make timely diagnosis of BPES, every patient with POF should specifically be checked for eye manifestations.

The most common cause of primary amenorrhea is congenital malformation of the Müllerian ducts, including Müllerian agenesis, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKH). Most general gynecologists and primary care physicians who see female adolescents will encounter MRKH in their careers. We present the case of an adolescent with MRKH who reported secondary, instead of primary amenorrhea. We discuss the subtleties of diagnosing MRKH, especially when patient history may not always be accurate. Because MRKH had not been included in the differential diagnosis for delayed menses, this patient was initially misdiagnosed. Delayed diagnosis of MRKH may harm patients by delaying assessment of concomitant renal, skeletal, hearing, and cardiac defects, which might otherwise impact the treatment plan.

Transverse vaginal septa are relatively rare anomalies. It has been shown to occur at different depths within the vagina. It results from vertical fusion or canalization disorder between the vaginal components of Mullerian ducts and urogenital sinus during embryological development of the vagina and can present with or without obstruction. The condition was initially described by Delaunay in 1877. The authors describe a rare case of a middle-aged female with Down's syndrome, presented with secondary amenorrhea for 3 years. Initial examination and imaging investigation revealed the presence of a transverse vaginal septum. The diagnosis was facilitated using a combination of abdominal and transvaginal ultrasound scanning and CT. And it has been revealed that she has a high rising microperforate transverse vaginal septum. Surgery and follow up was also done.

Introduction Sarcoidosis is a granulomatous disease that can affect multiple organ systems including the central nervous system in 5-15% of patients, yet it is a rare cause of intrasellar lesions (