Amenorrhea In Females Research Articles

Prevalence of Exercise Related Amenorrhea in Females

Background: Amenorrhea in physically active women is a significant health concern, often associated with intensive exercise and dietary patterns. Understanding its prevalence and influencing factors is essential for devising effective health interventions and promoting women's health in sports. Objective: The study aimed to explore the prevalence of amenorrhea among women regularly engaged in sports or gym activities and to identify key factors affecting menstrual health in this demographic. Methods: This cross-sectional survey, spanning six months, included 71 female athletes aged 13-37 from two fitness centers in Lahore. The research employed non-probability convenient sampling. Data collection was achieved using the Low Energy Availability in Females Questionnaire (LEAF-Q) and the Female Athlete Screening Tool (FAST). Statistical analyses were conducted using IBM SPSS Statistics 20. Results: The participants' mean age was 28.35 ± 5.02 years, with an average BMI of 27.90 ± 3.6. Among them, 18.3% had a normal BMI, 52.1% were underweight, and 29.6% were obese. LEAF-Q results indicated that 70% of participants experienced moderate menstrual disturbances, while 20% had slight disturbances without a clinical diagnosis of amenorrhea. The overall prevalence of amenorrhea was 1.41%. Influential factors included BMI, education, awareness, and guidance from fitness professionals. Conclusion: Contrary to initial expectations of a higher prevalence, the study discovered a relatively low occurrence of amenorrhea (1.41%) among active women. This underlines the importance of targeted educational and support interventions in fitness settings to manage menstrual health. Future research should further examine the interplay between exercise, diet, and menstrual health to improve care for female athletes.

THU576 Anabolic Androgenic Steroid Abuse In Cis-gender Female Bodybuilder

Abstract Disclosure: E.M. Niedzialkowska: None. D. Shelden: None. Introduction: Anabolic androgenic steroids (AAS) are used in bodybuilders to increase muscle mass. Abuse has surged as they are regarded as potent image enhancement drugs. There are a variety of illegal AAS available. Their true content is often unknown and dosing regimens frequently include concurrent use of multiple hormonally active agents. Use among female body builders is rarely reported. Having significantly lower levels of natural testosterone, females may be more susceptible to side effects and toxicity associated with AAS abuse. Clinical case: 36 year old cis-gender female presented to the Endocrinology clinic for evaluation of fatigue. The patient worked as a personal trainer at a gym and began participating in bodybuilding competitions. A year prior to the visit the patient was started on a steroid regimen by a friend at the gym. The patient’s regimen included testosterone cypionate (250mg-350mg a week) and trenbolone acetate. Anastozole was added to limit conversion to estrogen but was not administered on a regular basis. The patient reported no gender dysphoria. She has not had a menstrual period since she started the AAS. The patient was also diagnosed with acute kidney injury at the time of AAS initiation and further work up showed negative ANA, C3, C4, normal UA and protein/creatinine ratio. Her kidney injury was deemed to be related to NSAID and testosterone use. At the time of the visit laboratory results were significant for testosterone of >1500 ng/dl (N 240-1080), IGF-1 359 ng/ml (N 63-223), LH <0.1 mUI/ml (N>0.6), FSH <0.5 mUI/ml (N>1.4), estradiol 47 pg/ml (N 21-251), prolactin 10.8 ng/ml (N 3-30), hemoglobin 17.4 g/dl (N 12-15.1), platelets 416 bil/L (150-400), TSH 0.75 uIU/ml (N 0.4-4.5), creatinine 1.33 mg/dl (N 0.5-1.1), eGFR 53 ml/min/1.73m2. The patient's testosterone regimen was gradually decreased to 100 mg weekly with plans to further decrease the dose and with close follow up and monitoring of gonadotropins. Treatment to stimulate endogenous estrogen production may be necessary despite her current value being within normal limits as this may be a function of peripheral conversion of exogenous testosterone. Conclusion: AAS abuse is infrequent among cis-gender females. Its use in female bodybuilders increases muscle strength and athletic performance. Exogenous administration of synthetic testosterone results in negative feedback on the hypothalamic-pituitary axis, inhibiting GnRH, leading to inhibition of FSH and LH production leading to amenorrhea in females. AAS has also been associated with kidney injury with reports from animal studies suggesting testosterone induced podocyte damage and apoptosis. The steroid regimens used by bodybuilders differ and include multiple hormonally active agents. Its abuse among cis-gender women is uncommon and further research is needed to evaluate its toxicity among this group. Presentation Date: Thursday, June 15, 2023

Abstract #1325380: Two Cases of the Mayer-Rokitansky-Küster-Hauser Syndrome That Fit the Mold, Including Kidney Issues and Ectopic Ovaries: A Sporadic Occurrence

A spectrum of Müllerian malformations known as the Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects females with normal endocrine function and is characterized by congenital vaginal aplasia and an absence of the uterus or a rudimentary one. The ovaries and fallopian tubes are present. Primary amenorrhea in females with normally developed secondary sexual characteristics and normal external genitalia is the main symptom. There are 2 distinct kinds of this condition. It could exist alone (type I) or alongside other abnormalities (type II).

RF25 | PMON76 Kissing carotid arteries: An unusual cause of male hypogonadotropic hypogonadism.

Abstract Background Aneurysms of the internal carotid arteries are a rare cause of pituitary dysfunction1. While there are reports of primary amenorrhea in females due to ectatic internal carotid arteries2, hypogonadism in a male due to "kissing internal carotid arteries" causing compression of the pituitary gland has not previously been reported. Clinical Case A 27-year-old male with history of Crohn's disease, obesity, depression and sleep apnea on CPAP presented to endocrinology clinic for evaluation of low testosterone levels diagnosed 9 months prior to his initial visit. At the time of initial evaluation patient was using intramuscular testosterone cypionate 120mg weekly with total testosterone of 2.43 ng/mL (2.50-9.50 ng/mL). Testosterone replacement therapy was discontinued at that time to assess the hypothalamic-pituitary-gonadal (HPG) axis. After 9 months without testosterone treatment, repeat labs demonstrated total testosterone 0.91 ng/mL, bioavailable testosterone 0.69 ng/mL (1.10-4.0 ng/mL), SHBG 8 nmol/L (10-89 nmol/L), LH 3.1 mIU/mL (2-12 mIU/mL), FSH 2.7 mIU/mL (1.5-10 mIU/mL), estradiol 23 pg/mL (6-44 pg/mL), IGF-1 193 ng/mL (85-310 ng/mL), prolactin 10 ng/mL (3-23 ng/mL), TSH 1.03 mIU/L (0.3-5.5 mIU/L), FT4 1.15 ng/dL (0.76-1.70 ng/dL), 8 AM cortisol 13.5 ug/dL (5.3-22.5 ug/dL) and ACTH 37 pg/mL (5-52 pg/mL). Semen analysis was also performed which was unremarkable. Pituitary MRI revealed symmetric ectatic cavernous portions of the internal carotid arteries compressing and distorting the normal anatomy of the anterior pituitary gland consistent with "kissing carotid arteries." MRA was performed which did not demonstrate aneurysm or malformation of the cavernous internal carotid arteries. Patient was started on subcutaneous semaglutide 0.25mg weekly which was titrated to 1mg weekly for treatment of obesity. Testosterone replacement therapy was not re-initiated given future fertility goals and normal semen analysis. Conclusion To our knowledge, this is the first reported case of kissing internal carotid arteries causing isolated hypogonadotropic hypogonadism in a male patient. References 1) Heshmati HM, Fatourechi V, Dagam SA, Piepgras DG. Hypopituitarism caused by intrasellar aneurysms. Mayo Clin Proc. 2001 Aug;76(8): 789-93. doi: 10.1016/S0025-6196(11)63222-9. PMID: 11499817 2) Sahin M, Dilli A, Karbek B, Unsal IO, Gungunes A, Colak N, Uçan B, Cakal E, Ozbek M, Delibasi T. Unusual cause of primary amenorrhea due to kissing internal carotid arteries. Pituitary. 2012 Jun;15(2): 258-9. doi: 10.1007/s11102-012-0393-9. PMID: 22492265. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m., Monday, June 13, 2022 12:44 p.m. - 12:49 p.m.

Clinical Spectrum and Causes of Delayed Puberty Among Patients Presenting to the Endocrine Clinic at Jinnah Postgraduate Medical Centre.

Introduction: It has been observed that 5% of adolescents are affected by pubertal timing disorders. However, there is limited data about this in Pakistan. This cross-sectional study aimed to observe the patterns and causes of delayed puberty (DP) among patients presenting at the endocrine clinic of a tertiary care hospital in Karachi.Methods: This observational study was conducted at the endocrine clinic of Jinnah Postgraduate Medical Centre (JPMC) Unit II from 2007 to 2015. A detailed history was obtained from patients presenting with DP. We noted the available demographic data, main complaints, and family history of DP. Physical examinations were performed and the data recorded. Tanner staging was used to assess pubertal development. Relevant laboratory and imaging investigations were performed; data analysis was performed using SPSS 17 (IBM Corp., Armonk, NY).Results: A total of 2670 patients were registered in the endocrine clinic during the study period, of which 171 presented with DP; 119 were males and 52 were females. There was a wide variation in age at presentation ranging from 10 to 32 years. The majority of patients presented with short stature - 69 (57.98%) males and 19 (36.53%) females. Small testes were present in 28 patients (23.52%); 19 (15.96%) males presented with absent secondary sexual characteristics and infertility was present in three (2.54%) males, primary amenorrhea was observed in 25 (48.07%), both primary amenorrhea and short stature were the presenting symptoms of five (9.61%), and failure of breast development was seen in three (5.76%) females. Constitutional delayed growth and puberty (CDGP) was diagnosed in 42 patients (24.6%). The definitive diagnosis of idiopathic hypogonadotropic hypogonadism (IHH) was made in 18 (10.5%) patients. In another 18 (10.5%) patients, we could not differentiate between CDGP and IHH. Functional hypogonadotropic hypogonadism (FHH) due to non-endocrine illness was present in 16 patients (9.4%). The cause of DP was hypogonadotropic hypogonadism in 33 (19.3%) patients whereas 44 patients presenting with DP could not be classified due to incomplete data.Conclusion: This study showed that CDGP was the most common cause of DP in our patients with the most common presentation being short stature in males and amenorrhea in females. It is essential to differentiate CDGP in children from a small fraction of the pathological and treatable causes of DP.

Efficacy of Combination of Iron Pyrophosphate and Folic Acid in Management of Iron Deficiency- A Retrospective Study

Background: Iron deficiency is the most common cause of anemia, especially in reproductive-aged women. If not treated, it leads to weakness, fatigue, menorrhagia, amenorrhea in females and can cause serious consequences such as heart problems and complications in pregnant ladies such as premature births and low birth weight babies. Thus, it is necessary to prescribe iron supplementation in iron-deficient women to avoid complications in the later stage. Objective: The objective of this study was to evaluate the efficacy of the combination of ferric pyrophosphate and folic acid in reproductive-aged women who suffered from iron deficiency. Methods: Electronic medical records of 100 reproductive-aged women deficient in iron were analyzed. The baseline hemoglobin and iron parameters were noted. They were prescribed a 30 mg tablet combination of ferric pyrophosphate and folic acid, and the parameters were noted at 4 weeks, 8 weeks, and 12 weeks. The data was statistically analyzed by SPSS version 26.0. Results: The hemoglobin (hemoglobin, total erythrocytes, mean corpuscular volume, red cell distribution width, haematocrit) and iron parameters (serum iron, ferritin, transferrin saturation, serum transferrin) showed significant improvement in week 4, which continued till week 12. The RDW levels showed much improvement after week 4 till week 12. Conclusion: Our study concluded that the combination of ferric pyrophosphate and folic acid in tablet form significantly improves the hemoglobin and iron parameters within 4 weeks and showed further improvement until 12 weeks without any complaint of side effects.

Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.

17α-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by a human CYP17A1 gene mutation and has the classical phenotype of hypertension, hypokalemia, sexual infantilism, and primary amenorrhea in females (46,XX) and disorders of sexual development in males (46,XY). To date, few cases of 17OHD have been reported, and the likelihood of pregnancy has rarely been explored. To study the clinical characteristics, phenotype heterogeneity, genotyping, and the likelihood of pregnancy of patients with 17OHD. Genotype analysis was performed by direct sequencing of the CYP17A1 gene and next-generation sequencing in nonclassical patients. In vitro enzyme activity assays and 3-dimensional structure observations were used to assess the function of 3 missense mutations of the CYP17A1 gene. Progestin-primed ovarian stimulation (PPOS) was chosen for ovulation induction in 2 patients. Eight mutations were identified from 13 patients, including the homozygous mutations p. N395D and p. R496C and compound heterozygous mutations p. Y329fs/p. A421A and p. I332T/p. D487_F489del in 4 nonclassical patients. For the 3 missense mutations, an in vitro functional study showed mild impairment of 17α-hydroxylase activities 15.3-25.0% but residual 17,20-lyase activities 6.6%-9.4%. Two 46,XX females succeeded in pregnancy and delivery by combined PPOS, in vitro fertilization embryo transfer (IVF-ET), and the use of low-dose glucocorticoids. Partial 17OHD present nonclassical clinical features, without hypertension and hypokalemia. Successful pregnancy in such 46,XX patients could be attained by the appropriate choice of ovulation induction regimen, precise dose of glucocorticoid to reduce progesterone levels, and the use of IVF-ET.

RELATION OF AMENORRHEA WITH PCOS BELOW 35 AGE

Polycystic ovarian syndrome is a series of disorders which comprises anovulation, hyper-androgenism indications and polycystic ovaries. There are many causes of amenorrhea such as estrogen-deficient amenorrhea, estrogen-replete amenorrhea, exercise induced amenorrhea, stress induced, medication induced amenorrhea, eating disorders, anorexia nervosa, hypothalamic amenorrhea and PCOS. OBJECTIVE: The objective is to review the frequency of amenorrhea in patients with PCOS. To review about the complex relationship between the PCOS and amenorrhea. Is really amenorrhea is common complaint in all PCOS patients? METHODs: I reviewed articles from Google Scholar, Sci-hub, and PubMed etc. There is a lot of data which I reviewed. Data from females came with different gynecological complaints are also reviewed and females with PCOS are also reviewed.RESULT: By reviewing previous studies, oligo-amenorrhea is much more common than amenorrhea in females diagnosed with PCOS in their reproductive age. Amenorrhea especially secondary amenorrhea is most common in teenagers and adolescents. PCOS is common cause of secondary amenorrhea but PCOS is more common in females with oligo-amenorrhea. CONCLUSION: In previous studies, there are many patients with complaints of amenorrhea and diagnosed with PCOS but there are also some patients who came with other gynecological complaints and diagnosed with PCOS. So this also challenges somehow the Rotterdam criteria for PCOS.

Diagnosis of oligomenorrhea and amenorrhea in females (infertility) of different ethnic groups of Quetta Balochistan

Diagnosis of oligomenorrhea and amenorrhea in females (infertility) of different ethnic groups of Quetta Balochistan

Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan.

Objective:To describe the mode of presentation and frequency of external genital anomalies in disorder of sex development (DSD)Methods:This cross-sectional study was conducted at Children Hospital & Institute of Child Health, Lahore from January to December, 2016 on Children with DSD above 10 years of age. A detailed history and physical examination were done. Positive findings were recorded on a predesigned proforma and analyzed by SPSS 21. Karyotyping on blood samples was done to determine their genetic sex.Results:Out of 83 DSD children, 67% (n=56) were assigned a female sex at birth of which 9% (n=5) had ambiguous genitalia. Male sex at birth was given to 33% (n=27) of which 96% (n=26) had genital ambiguity. Mode of presentation other than ambiguous genitalia were delayed puberty, amenorrhea, hirsuitism, gynaecomastia, cyclic hematuria etc. Clitoromegaly was the main finding in 62.5% (n=5) and micropenis in 45% (n=9). Karyotypic sex of 56 female sex of rearing was 46XX 80% (n=45), 45X0 13% (n=7), XXX 2% (n=1) and 46 XY in 5% (n=3). Karyotypic sex of 27 male sex of rearing was 46XY in 78% (n=21), 46XX in 15% (n=4) and 47XXY in 7% (n=2).Conclusion:Disorders of sex development presented with a wide spectrum of external genital anomalies ranging from clitoromegaly in females to micropenis and hypospadias in males. There was also an extreme diversity in mode of presentation of these cases including pubertal delay, amenorrhea in females and gender confusion disorders.

MON-241 Dome Shaped Pituitary Enlargement Warrants Detailed Endocrine Evaluation Prior to Neuro-Surgical Intervention: Case Series & Analysis

Pituitary tumours diagnosed incidentally on imaging as sellar-suprasellar masses, often undergo unwarranted Neuro-surgical intervention, often leading to the requirement of life-long post-operative hormone supplementation. Although surgery remains the primary modality in most of the Functional (except Prolactinomas) & Non-Functional Pituitary Macro-Adenomas abutting the Optic Chiasma, Several cases are feed-back adenomas due to untreated Hypothyroidism or Drug- Induced Hyperprolactinemia which require a conservative approach.These Pituitary enlargements may not only be Sellar but also at times extend Supra-sellar mimicking a surgically resctable one. In adolescents they come with a constellation of features like severe short stature & primary Amenorrhea in Females. Noteworthy that these symptoms appear commonly in both groups of surgically resectable masses as well as the secondary pituitary enlargements which need conservative approach, thus often resulting in inadvertent Surgical misadventures.We report 3 cases of Adolescent females referred from peripheral centre to the Neuro-Surgical take of our Institute. Both the females had severe short stature with primary amenorrhea. The imaging characteristics in all the three patients were unique in the sense that they had uniform enlargement of the entire Pituitary extending supra-sellar without any focal hypo-intensities without any obvious mid-line shift of the Pituitary stalk & enhanced uniformly in Post-Contrast studies. We also observed that the upper margin of the masses had a uniform convexity resembling a “DOME”. Thorough Endocrine work-up revealed severe Untreated Hypothyroidism with S.TSH greater then 100micro IU/ml. The patients were treated conservatively with Levo-thyroxine supplementation. The patients had significant Height gain with menarche in the following 4-6 months of Therapy. S.TSH normalized after 2-3 months of therapy. Repeat imaging after 6 months of therapy revealed normal Pituitary architecture without the presence of any focal lesions or enlargement.Feedback Adenomas of the Pituitary have been depicted in the literature. “DOME” shaped Pituitary enlargement seems quite unique to all Pituitary masses which can be treated with conservative means. Pituitary masses should therefore undergo thorough Endocrine intervention before any Neuro-Surgical intervention is contemplated, specifically when the incidentally discovered masses have a “DOME” shaped symmetrical upward convexity on imaging.

Primary amenorrhea in females attending gynaecological outpatient of a tertiary care hospital at Peshawar.

To determine the aetiological factors of amenorrhea. The pilot cross-sectional study was conducted in Government Naserullah Khan Babar Memorial Hospital, Peshawar, Pakistan, from January 2015 to December 2017, and comprised amenorrhea cases. Cases were analysed according to their clinical profile, ultrasound findings and biochemical tests. Data was analysed using SPSS 20. There were 100 patients with a mean age of 22.17±5.52 years (range: 14-36 years). Anatomical defects were the most common cause in 60(60%) patients. Imperforate hymen and transverse vaginal septum were found in 7(7%), 7(7%) patients each, while mullerian abnormalities were found in 46(46%) patients. Hypergonadotropic hypogonadism and polycystic ovarian syndrome were found in 17(17%) patients each. Anatomical defects were found to be the most common cause among amenorrhea patients.

Clinical Trials Required to Assess Potential Benefits and Side Effects of Treatment of Patients With Anorexia Nervosa With Recombinant Human Leptin.

The core phenotype of anorexia nervosa (AN) comprises the age and stage dependent intertwining of both its primary and secondary (i.e., starvation induced) somatic and mental symptoms. Hypoleptinemia acts as a key trigger for the adaptation to starvation by affecting diverse brain regions including the reward system and by induction of alterations of the hypothalamus-pituitary-“target-organ” axes, e.g., resulting in amenorrhea as a characteristic symptom of AN. Particularly, the rat model activity-based anorexia (ABA) convincingly demonstrates the pivotal role of hypoleptinemia in the development of starvation-induced hyperactivity. STAT3 signaling in dopaminergic neurons in the ventral tegmental area (VTA) plays a crucial role in the transmission of the leptin signal in ABA. In patients with AN, an inverted U-shaped relationship has been observed between their serum leptin levels and physical activity. Albeit obese and therewith of a very different phenotype, humans diagnosed with rare congenital leptin deficiency have starvation like symptoms including hypothalamic amenorrhea in females. Over the past 20 years, such patients have been successfully treated with recombinant human (rh) leptin (metreleptin) within a compassionate use program. The extreme hunger of these patients subsides within hours upon initiation of treatment; substantial weight loss and menarche in females ensue after medium term treatment. In contrast, metreleptin had little effect in patients with multifactorial obesity. Small clinical trials have been conducted for hypothalamic amenorrhea and to increase bone mineral density, in which metreleptin proved beneficial. Up to now, metreleptin has not yet been used to treat patients with AN. Metreleptin has been approved by the FDA under strict regulations solely for the treatment of generalized lipodystrophy. The recent approval by the EMA may offer, for the first time, the possibility to treat extremely hyperactive patients with AN off-label. Furthermore, a potential dissection of hypoleptinemia-induced AN symptoms from the primary cognitions and behaviors of these patients could ensue. Accordingly, the aim of this article is to review the current state of the art of leptin in relation to AN to provide the theoretical basis for the initiation of clinical trials for treatment of this eating disorder.

On the Problem of Female Infertility: A Search for Genetic Markers

In every one case out often, the reason behind female infertility turns out to be an orphan disease called 'hypogonadotropic hypogonadism', the single symptom of which is the reduced level of gonadotropins and, as a consequence, amenorrhea in females. Most often, hypogonadotropic hypogonadism is caused by disorder in secretion of gonadoliberin, the product of gene GNRH1. However, the disease is heterogeneous one, so it may origin from either genetic or non-genetic causes. To study the genetic component of the disease pathogenesis, we conducted molecular-genetic analysis of 11 gene-candidates controlling synthesis and secretion of gonadoliberin as well as several gene-candidates functioning as neurodevelopmental and neuroendocrine regulators. In the study participated a group of patients afflicted by hypogonadotropic hypogonadism of an isolated form (n = 10), and a control group of healthy women (n = 20). All women were of reproductive age, with no detected mutations in gene-candidates that could cause any pathological effect. The data on gene-candidates expression in white blood cells are indicative of an increased expression of gene GNRH1 in the sampled patients as compared to the control group (p < 0.05). Other genes demonstrate heterogeneous expression both in the patients group and the control group. Thus, increased expression of gene GNRH1 in blood cells appears to be associated with the isolated form of hypogonadotropic hypogonadism and, in prospect, may be used as one of the disease markers.

Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis

Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Here, we report a 17OHD patient who experienced clinical adrenal crisis on day 1 after gonadectomy. Her (46,XY) genetic defect was c0.715 C > T p.Arg239-stop in exon 4 of CYP17A1, which was confirmed by targeted sequence capture/high-throughput sequencing and Sanger sequencing technology. To the best of our knowledge, 17OHD with adrenal crisis has not been reported previously, and the reason why it arose in this patient might have been inappropriate glucocorticoid administration during the perioperative period.

Establishment of a library of fragments for the rapid and reliable determination of anabolic steroids by liquid chromatography-quadrupole time of flight-mass spectrometry

Anabolic steroids have similar structures to testosterone, both of which promote the growth of muscle mass and increase strength. However, the side effects of anabolic steroid use may lead to heart attacks or strokes. Additionally, the excessive use of steroids inhibits the production of the sex hormones in the body via a negative feedback loop, which results in testicular atrophy in males and amenorrhea in females. Currently, the method of choice used to test for the presence of anabolic steroids is GC-MS. However, GC-MS methods require chemical derivatization of the steroid sample to ensure compatibility with the analytical method; therefore, analysis of many different samples is difficult and time consuming. Unlike GC-MS, the liquid chromatography-quadrupoletime of flight mass spectrometry (LC-Q-TOF-MS) method is suitable for many samples. Twenty-two different anabolic steroids were analyzed by LC-Q-TOF-MS with various collision energies (CE). Accurate mass spectral data were obtained using a Q-TOF-MS equipped with an electro-spray ionization source and operated in the positive MS/MS mode for several classes of steroids that are often the targets of testing. Based on the collected data, fragmentation pathways were carefully elucidated. The high selectivity and sensitivity of the LC-Q-TOF-MS instrument combined with these fragmentation pathways offers a new approach for the rapid and accurate screening of anabolic steroids. The obtained data from the 22 different anabolic steroids will be shared with the scientific community in order to establish a library to aid in the screening of illegal anabolic steroids.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

BackgroundPrimary gonadal failure is characterised by primary amenorrhoea or early menopause in females, and oligospermia or azoospermia in males. Variants of the minichromosome maintenance complex component 8 gene (MCM8) have...

Genetic evaluation in infertility: Case of infertile couple with deletion and duplication of chromosome 9q12

Infertility is defined as the inability of women to ever bear a child or become pregnant after one year unprotected sexual intercourse or carry a pregnancy to a live birth. Genetic counseling can increase a couple's chance of having a healthy baby. Some forms of infertility, particularly sperm abnormalities in males and oligomenorrhoea/ amenorrhoea in females have a genetic basis. Couples with these forms of infertility may be at increased risk for transmitting infertility to their children, for having a miscarriage or for having a child with a serious genetic condition. Based on international guidelines for appropriate use of genetic testing in infertility, cytogenetic testing is strongly advised in all cases of infertility. Apart from this, there are several other molecular genetic tests such as Y chromosome deletions, FRAX-A, CFTR gene analysis that are recommended during diagnostic work up of infertility and prior to ART. In the present paper, we report a case of an infertile couple who were referred for genetic evaluation for infertility prior to ART. The husband had a partial trisomy of 9q12 heterochromatin region [46,XY,dup(9)(q12)] while the wife had a partial monosomy of the same 9q12 heterochromatin region [46,XX,del(9)(q12)]. The case discussion emphasizes the role of genetic testing and counseling in infertility cases to determine the etiology of infertility, determination of risk of genetically abnormal offspring. This helps the couple make an informed choice regarding their reproductive choices. Genetic testing and genetic counselling should always be part of an extensive evaluation of infertile couples, especially those opting for ART. Keywords: Genetic evaluation; infertility; deletion and duplication of chromosome 9q12

Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine – stop mutation

A rare cause of congental adrenal hyperplasia is 17α-hydroxylase deficiency. It results in sexual infantilism, primary amenorrhea in females, pseudohermaphroditism in males, hypertension, and hypokalemia. We studied two female siblings from a rural community in Mexico. The cause of consultation was primary amenorrhea. The proband had low levels of estrogen, progesterone and cortisol. Deoxycorticosterone and corticosterone levels were elevated. The proband was homozygous for a transversion of cytosine to thymine at exon 4 (CGA→TGA), causing a premature stop codon at position 239 (R239X). Analysis of family members showed the presence of this heterozygous mutation in the mother, father and one healthy sibling. In summary, we describe a Mexican family with 17α-hydroxylase deficiency due to R239X mutation.

Incidental pituicytoma after accidental head trauma – case report and review of literature

We report on a patient with pituicytoma, i.e. a rare neoplasm of the neurohypophysis, with unusual anamnestic manifestation. After a car accident, the patient suffered from severe persisting headaches. Diagnostic procedures revealed a minor visual impairment and restriction of the gonado- and somatotropic pituitary axis. MRI showed an architecturally solid, well demarcated and homogenous suprasellar lesion. Due to the challenging location of the lesion with a small intrasellar mass and larger suprasellar part within the hypophyseal stalk, a subtotal resection was carried out to save the pituitary function and for neuropathological assessment comprising numerous stainings and immunohistochemical reactions. We observed a highly differentiated, low proliferative, rather cellular and in individual parts moderately pleomorphic tumor with cells arranged in storiform or whorled patterns, that strongly expressed S-100 protein, microtubulus-associated protein 2 (MAP2) and vimentin. Postoperative visual field testing was inconspicuous, but pituitary malfunction was persistent. With respect to the accidental discovery of this pituicytoma, it remains unresolved whether the persisting headache was due solely to the head trauma or was additive with the effects of the pituicytoma. To date less than 30 bona fide examples have been described and typically present symptoms due to mass effects such as visual disturbances, hypopituitarism as well as interference with hypothalamic dopamine release, resulting in subsequent hyperprolactinemia accompanied by decreased libido and amenorrhea in females. These neoplasms represent an important differential diagnosis with respect to suprasellar lesions and a clinical and neuropathological challenge.