Absence Of Secondary Sexual Characteristics Research Articles

Primary Amenorrhoea

The amenorrhoea is the normal physiological feature in prepubertal girls, failure to commence menstruation is primary amenorrhea. A normal uterovaginal anatomy and functional hypothalamic pituitary ovarian (HPO) axis is essential for menstruation. The detailed relevant medical and family history along with thorough physical examination adds in for requesting relevant investigations to find out the cause. In the absence of secondary sexual characteristics, hormonal disturbances are the most likely cause while anatomical problems are more common in the presence of secondary sexual characteristics, along with physiological delays and endocrinopathies. Investigate primary amenorrhoea without secondary sexual development at 13 years and with secondary sexual development at 15 years of age, consider early referral if suspicion of chromosomal abnormality, hyperandrogenemia, anatomical abnormalities or primary amenorrhoea persists for five years after thelarche. The multidisciplinary team approach, to support patient and parents with evidence base knowledge for decision-making is the corner stone. It is important to address patient and their family needs, individually for the best outcome.

Successful pregnancy and delivery after ovulation induction therapy in a woman with congenital hypogonadotropic hypogonadism: a case report

BackgroundCongenital hypogonadotropic hypogonadism (CHH) is a rare disorder resulting from a deficient secretion of the episodic gonadotropin-releasing hormone, leading to delayed or absent puberty and infertility. In female patients with CHH, the most commonly used treatment is gonadotropin (Gn) therapy. Due to the rarity of the disease in females, there are limited case reports available. This article offers a management approach for this unusual disease that can be helpful for clinicians.Case presentationWe report the case of a 29-year-old woman who successfully achieved pregnancy and delivered healthy twin girls after ovulation induction therapy. The patient was diagnosed with CHH at 18 years of age due to primary amenorrhea and the absence of secondary sexual characteristics. After experiencing infertility for three years, the patient sought medical assistance for conceiving. The patient was treated with gonadotropin therapy due to anovulation. In her first treatment cycle, the initial dose of HMG used for treatment was 75IU, which was increased to 150IU after six days. However, the cycle was canceled due to follicular dysplasia. In the second cycle, the treatment began with an initial dose of 150IU, and the follicles grew normally, but the estrogen level was low. Consequently, the treatment was interrupted. In a third ovulation stimulation cycle, HMG was adjusted to 150IU, and recombinant LH was added. After 12 days of ovulation, three mature follicles grew, the estrogen level was normal,and the treatment resulted in successful ovulation and subsequent pregnancy. At 35 weeks of gestation, the patient underwent a cesarean section and delivered two healthy female infants weighing 2,405 g and 2,755 g with an Apgar score of 10/10.ConclusionsEarly diagnosis and timely and appropriate hormone replacement therapy are important for future pregnancy. Ovulation induction therapy is necessary to stimulate fertility. Gn therapy is a feasible and effective treatment for reproduction in CHH females, but the selection of Gn type and dosage must be personalized to maximize fertility outcomes. Effective treatment is available not only for inducing estrogenization and promoting fertility, but also for addressing concerns about psychological and emotional well-being.

Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype.

17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m2, cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD). Diagnosis outside pediatric age is not rare. 17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.

Clinical and Biochemical Characteristics of Male Idiopathic Hypogonadotropic Hypogonadism Patients: A Retrospective Cross Sectional Study.

Idiopathic hypogonadotropic hypogonadism (IHH) is a medical condition where there is a deficiency or insensitivity of gonadotropin-releasing hormone (GnRH) without a known cause. Not only are the sexual characteristics of a person affected by this condition but also are the psychological and physical development, thus necessitating its early recognition and treatment. This research was carried out to identify the laboratory parameters and to present symptoms of the patients with complaints of IHH. This retrospective, center, single-center, cross-sectional study was carried out in Aga Khan University from December 2000 until December 2020 on the patients that presented to the clinic with IHH. The patients included in the study were those that presented with hypogonadism, a low concentration of sex steroid hormone, and an abnormal gonadotropin level without any expansive pituitary or hypothalamic lesion. Seventy nine patients presenting with IHH were included with their mean age of 24.2 ± 7.5 years. Of these, 64 (81.0%) had genital atrophy, 50 (63.6%) showed an absence of secondary sexual characteristics, 53 (67.1%) complained of infertility, 44 (55.7%) had not shown signs of puberty, 52 (65.8%) had erectile dysfunction, 46 (58.2%) had a decrease in libido, 11(13.9%) had a previous familial history, 24 (30.3%) had gynecomastia, 9 (11.4%) had non-descended testes, and 6 (7.6%) had anosmia. These patients had serum testosterone, luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels of 26.3 ± 60, 1.3 ± 2.4, and 2.7 ± 5.0 (IU/L), respectively. Thus, it can be stated that small genitalia is the most common complaint among patients with IHH, followed by infertility and lack of secondary sexual characteristics. The testosterone level in serum is also found to be low among these patients.

Clinical profile and aetiologies of delayed puberty: a 15 years' experience from a tertiary centre in Sudan.

Delayed puberty is a common presentation to endocrine clinics, with adult height, sexual capability and fertility being the main concerns for the child and his/her family. Presentation is variable including short stature and/or absence of secondary sexual characteristics. The aetiology can either be constitutional, functional or permanent hypogonadotropic hypogonadism, permanent hypergonadotropic hypogonadism or unclassified. Despite the importance of this subject, there are no publications from Sudan. A retrospective hospital-based study. Records of all patients who were seen in the endocrinology unit at Gaffar Ibn Auf Children's Hospital and were diagnosed as having delayed puberty were reviewed and demographic, clinical, and investigations data were obtained. A total of 136 patients were included in this study. Presentation includes short stature in 52.2%, both short stature and delayed puberty in 27.2%, and delayed puberty in 20.6%. The most common aetiologies were permanent hypogonadotropic hypogonadism and functional hypogonadotropic hypogonadism presented in 37.5% and 36% respectively, while constitutional delay of growth and puberty was found in only 14.7%. Type 1 diabetes mellitus (T1DM) was the most frequent chronic illness followed by coeliac disease. Hypergonadotropic hypogonadism was diagnosed in 11.7%, the majority of which were females. The aetiological pattern reported in this series highlights the role of nutrition and general well-being in pubertal development, as well as the major impact of genetics and consanguinity on disease patterns. Data from African countries are limited and this is the first reported cohort on delayed puberty from Sudan.

A Study of Factors Associated With Carrying Angle of the Human Elbow in Pediatric Age Group.

PurposeThis prospective cohort study aims to determine the factors that are associated with the carrying angle of the human elbow in the pediatric age group.MethodsOne hundred forty children up to 15 years of age were assessed for age, sex, forearm lengths of both sides, arm length of both sides, trans-trochanteric diameter, height, BMI, the inter-epicondylar distance of both sides, Baumann’s angle of both sides, presence or absence of secondary sexual characteristics, clinical carrying angle (CCA) of both sides, and radiological carrying angle (RCA) of both sides. Unpaired t-test was used to compare the means of carrying angle in the unrelated groups, namely gender and secondary sexual characteristics. The strength and direction of the relationship between carrying angle and continuous variables were tested by calculating Pearson’s correlation. Variables found to be associated with carrying angle at significance level >0.25 on bi-variable analysis were used to design a linear regression model to identify factors associated with carrying angle.ResultsThe mean age was 5.84±4.76 years. Ninety-eight (70%) were males, and forty-two (30%) were females. The mean CCA on the right side was 8.55±2.01. The mean CCA on the left side was 8.77±2.03. The mean RCA on the right side was 8.85±2.09. The mean RCA on the left side was 9.07±2.13. On bi-variable analysis, the CCA was found to be associated with age, secondary sexual characteristics, weight, height, arm length, forearm length, inter-epicondylar distance, trans-trochanteric distance, and Baumann’s angle. CCA was found to be significantly negatively correlated with BMI. On multivariate linear regression, the CCA was found to be associated with age and inter-epicondylar distance.ConclusionAge and inter-epicondylar distance are the true associations of carrying angle.

Evaluating Underlying Endocrine Abnormalities in Adolescents with Menstrual Disorders Presenting at a Tertiary Care Hospital

Introduction: Adolescence is a significant period between childhood and adulthood when physical and psychological changes occur along with menstruation. The onset of puberty is governed by genetic, endocrinal, neuronal, socioeconomic, and environmental factors. Endocrine abnormalities in adolescents are not uncommon and can lead to menstrual disorders. This study's objective is to identify the prevalence of underlying endocrine abnormalities and their association with menstrual disorders among adolescents at a tertiary care hospital in Pakistan. Material and Methods: We conducted a cross-sectional study of adolescent girls presenting with menstrual disorders at the Department of Obstetrics and Gynecology at Liaquat National Hospital, Karachi, Pakistan, from January 1, 2020, to January 1, 2021. We collected a detailed history from each patient. All physical examinations were performed in the presence of a female nurse, and we carefully maintained patient privacy. The physical examinations consisted of recording the patient's height, weight, body mass index (BMI), and thyroid examination. We also noted the patient's hirsutism score and the presence or absence of secondary sexual characteristics. All the patients received a hormonal evaluation in which we measured their thyroid-stimulating hormone levels, and follicle-stimulating hormone (on day two of their menstrual cycle and random FSH was measured for amenorrhea patients), prolactin, and free androgen index. Results: The study included 143 adolescent girls aged 10 to 19 with menstrual disorders such as primary amenorrhea, secondary amenorrhea, frequent menstrual bleeding, infrequent menstrual bleeding, shortened menstrual bleeding, heavy menstrual bleeding, and intermenstrual bleeding. The mean menarcheal age of the patient population was 12.1 ± 0.4 years, and the mean BMI was 25.27 ± 5.02 kg/m2. One hundred twenty-four patients (86.7%) reported polycystic ovarian syndrome (PCOS). Most PCOS patients had infrequent menstrual bleeding (85.5%), 46% had biochemical signs of hyperandrogenism, and 18.5% of PCOS patients showed clinical signs of hyperandrogenism. The most common menstrual problems reported by the patients were infrequent menstrual bleeding (74.1%), followed by shortened menstrual bleeding (61.5%), and heavy menstrual bleeding (9.8%). Thyroid dysfunction was present in the form of hypothyroidism (67.4%) and hyperthyroidism (32.6%). Over half of the hypothyroid patients (58.1%) presented with infrequent menstrual bleeding,41.9% presented with shortened menstrual bleeding and 41.9% with heavy menstrual bleeding .Infrequent menstrual bleeding (73.3%) and shortened menstrual bleeding (66.7%) were the most common menstrual problems in hyperthyroid patients. We found a significant association between thyroid disorder and infrequent menstrual bleeding (p=0.037), heavy menstrual bleeding (p<.001), and shortened menstrual bleeding (p=0.051). Heavy menstrual bleeding was also significantly related to hyperprolactinemia (p=0.036). Conclusions: Our study showed that endocrine abnormalities in thyroid dysfunction, PCOS, hyperprolactinemia, and hyperandrogenism could cause various menstrual problems in adolescent girls. Hence, underlying endocrine abnormalities need to be investigated and treated to improve adolescents' physical and mental well-being.

New STAG3 gene variant as a cause of premature ovarian insufficiency

RESUMENObjetivos: describir un caso de falla ovárica secundaria a una variante patogénica homocigota en el gen STAG3 no reportada previamente.Materiales y métodos: paciente de 16 años con amenorrea primaria y ausencia de características sexuales secundarias, en quien se documentó hipotiroidismo autoinmune, pobre desarrollo genital y cintilla gonadal, por lo cual se realizó secuenciación de exorna clínico. Se identificó una variante homocigota patogénica previamente no reportada en el gen STAG3, el cual ha sido relacionado con insuficiencia ovárica prematura (IOP).Conclusiones: en este caso, la realización de exorna clínico fue determinante para identificar una alteración del gen STAG, probablemente asociada a la IOP y el pronóstico a largo plazo de la paciente. Se establece una nueva variante patogénica c.2773delT; p.Ser925Profs*6 del gen STAG3 asociada a la IOP.

442 A rare case of gonadal dysgenesis, 46 XY

Introduction: Pure form of gonadal dysgenesis, 46 XY - a form of malformation characterized by the presence of female genital organs: hypoplastic uterus, fallopian tubes and dysgenetic gonads, usually represented by fibrous tissue. According to the literature, the above-described pathology can form because various genetic defects at the stage of differentiation from the bipotential gonad into the testicle from 3 to 8 weeks of gestation. Methods and results: A patient with complaints of the absence of secondary sexual characteristics and menstruation, who applied to our Center in order to clarify the diagnosis.

Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.

Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been linked to reduced fertility with teratozoospermia (SPGF36, MIM# 618420) in male carriers. We present eight patients from four unrelated families of Turkish and Indian descent with three different germline homozygous PPP2R3C variants including a novel in-frame duplication (c.639_647dupTTTCTACTC, p.Ser216_Tyr218dup). All patients exhibit recognizable facial dysmorphisms allowing gestalt diagnosis. In two 46,XX patients with hypergonadotropic hypogonadism and nonvisualized gonads, primary amenorrhea along with absence of secondary sexual characteristics and/or unique facial gestalt led to the diagnosis. 46,XY affected individuals displayed a spectrum of external genital phenotypes from ambiguous genitalia to complete female. We expand the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to both XY and XX gonadal dysgenesis. Our findings supported neither ocular nor muscular involvement as major criteria of the syndrome. We also did not encounter infertility problems in the carriers. Since both XX and XY individuals were affected, we hypothesize that PPP2R3C is essential in the early signaling cascades controlling sex determination in humans.

An Uncommon Association of Kallmann Syndrome and Arachnoid Cysts: A Case Report

Objective − To present a rare case of Kallmann syndrome associated with arachnoid cysts, and to emphasize the importance of correlation of radiological analysis with anamnestic data and clinical findings. Case Report − Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in the sense of smell. We report the case of KS in a 17-year old male. The patient presented with an absence of secondary sexual characteristics and anosmia. On the basis of anamnestic data, clinical findings and hormonal assay diagnosis of KS was likely but additional diagnostic workup, such as laboratory tests, karyotyping, scrotal and abdominal ultrasound, bone mineral density and X-ray of the wrist, were made to ensure the correct diagnosis. Brain MRI showed a morphologically normal pituitary gland, an arachnoid cyst on the right temporal lobe, a right frontal arachnoid cyst and hypoplastic olfactory bulbs. Androgen replacement with testosterone was started to induce virilisation. Our patient is now on regular follow-up to monitor his response to treatment. Conclusion − Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This is the sixth reported case of KS associated with arachnoid cysts. Due to the rarity of both KS and arachnoid cysts, it is difficult to establish a relationship between these two conditions. Early diagnosis of this syndrome is important to ensure a better quality of life.

Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty

GnRH neuronal biology has been identified as a critical element in the pathogenesis of self-limited DP, previously implicated exclusively in the pathophysiology of idiopathic hypogonadotropic hypogonadism (IHH). We hypothesise that this condition may be inherited via genetic variants discoverable through whole-exome sequencing (WES), by focusing on genes involved in GnRH neuron development and function, and genes reported in IHH. We analysed WES data from large Finnish cohort with familial self-limited DP, focusing on genes recently reported in IHH. WES data of 100 DP families have been analysed with a total of 193 individuals: 100 probands, 158 affected and 35 unaffected family members. Potentially pathogenic rare variants segregating within cohort families were identified using a virtual panel of recently reported IHH genes (n=13). This analysis identified 6 rare potentially pathogenic variants in CCDC141 in 25 individuals of 8 families which account for almost 10% of self-limited DP cases in this cohort, without variants identified in cohort control cases. Previous studies reported that homozygous or compound heterozygous mutations of CCDC141 cause Kallmann syndrome and IHH, due to impaired GnRH neuronal migration. In this study, all 6 CCDC141 variants were heterozygous missense variants predicted to be deleterious by in silico prediction tools. Most probands were male (n=7) with typical features of self-limited DP, with absence of secondary sexual characteristics, delayed bone age, and low gonadotropins and sex steroids at first presentation and spontaneous entry into puberty later than age of 14 years without treatment. The majority of pedigrees displayed good segregation of variants with the DP trait, following an autosomal dominant inheritance pattern. However, in two families, there was a complex inheritance pattern with compound heterozygosity (p.Ser55Cys and p.Asp767Asn) and possible incomplete penetrance. In vitro study showed that the overexpression of four key CCDC141 variants in HEK293 cells delayed cell migration, 72% in p.Ser55Cys (p=0.04), 66% in p.Gln507His (p=0.04), 65% in p.Asp767Asn (p=0.02), and 83% in p.Ala1073Thr (p=0.01), when compared to WT (100%). Moreover, WT-overexpressed cells increased the rate of cell migration when compared to non-transfected cells (100% vs 65%, p=0.005), reaffirming that CCDC141 has a role in cell migration. In conclusion, heterozygous deficiency of CCDC141, previously reported to cause IHH, can cause self-limited DP due to abnormal GnRH migration during foetal development.

Pituitary Volume and Iron Overload Evaluation by 3T MRI in Thalassemia.

To evaluate pituitary volume and iron overload in beta thalassemia major, with the objective of assessing the reliability of this method in predicting hypogonadism. 3T MRI was used to measure pituitary R2 and T2* in 57 beta thalassemia major patients and 30 controls. Anterior pituitary volume was evaluated by MRI planimetry. Cardiac, hepatic, and pancreatic iron overload were also assessed using MRI T2*. Mean serum ferritin was estimated by sandwich immuno-assay. Short stature was defined as height < 3 rd percentile for age, and clinical hypogonadism defined as absence of secondary sexual characteristics at ages ≥13 y for females and ≥ 14 y for males. Short stature was present in 32 patients (56.1%). Of the 47 patients in the pubertal age group, 11(23.4%) had hypogonadism. Serum ferritin correlated positively with pituitary R2 (p = 0.004) and negatively with anterior pituitary volume (p = 0.006), whereas pituitary R2 correlated negatively with cardiac T2* (p = 0.001). Patients with hypogonadism had lower pituitary R2 (p = 0.186), T2* (p = 0.048), and anterior pituitary volumes (p = 0.012) compared to those with normal sexual maturity. Regardless of stature, no significant difference was observed between pituitary R2 (p = 0.267) and T2* (p = 0.451). Mean pituitary R2 in patients (78.99Hz) was higher than in controls (20.8Hz) (p = 0.0001). Anterior pituitary volume was lower in patients (264.83mm3) than in controls (380.87mm3) (p = 0.0001). A threshold value of 22.85Hz for pituitary R2 gave a sensitivity of 84.2% and a specificity of 73.3% in distinguishing pituitary iron content of patients from controls, with an area of 0.864 under the ROC curve. 3T MRI is a reliable method to detect pituitary iron overload and predict risk of hypogonadism in beta Thalassemia.

Hypogonadotropic Hypogonadism Associated With Obesity: A Case Report

One of the critical factors with a broad impact on health is obesity. Besides its cardiovascular comorbidities, obesity’s probable association with hypogonadotropic hypogonadism inmen will be discussed in this article by reporting a severely obese boy, presenting with the absence of secondary sexual characteristics and hypertension. The hypothalamus-pituitary-gonadal axis can be influenced by several mechanisms at different levels of the axis. Some of these pathophysiological mechanisms, related to our case are explained to explore the association of obesity with reproductive disorders. Adipose tissue plays a prominent role in the metabolism of hormones that are secreted by other glands. Obesity as a preventable risk factor is valuable to be researched, to decrease the burden of its morbidity and mortality. Thus more studies should be done in the future to determine the complex network of factors contributing to hormonal imbalances seen in obese people.

A Rare Cause of Delayed Puberty in Two Siblings: A Case Report

Introduction: 17 alpha-hydroxylase deficiency (17-OHD) is an infrequent autosomal recessive disorder in adrenal and gonadal steroidogenesis due to the CYP17A1 defect. Affected girls are characterized by delayed puberty, absence of secondary sex characteristics at puberty, and primary amenorrhea. Affected boys show female or ambiguous genitalia. Hormone imbalances result in varying degrees of hypertension and hypokalemia. The increase in corticosterone levels prevents the development of typical adrenal insufficiency symptoms. Glucocorticoid and sex steroid supplementation is the preferred treatment. Case Presentation: We reported two phenotypically female siblings, aged 14 and 25 years, with the 17-OHD from Ankara, the capital city of Turkey. The younger child had a 46,XX karyotype and the older had a 46,XY chromosome pattern. Another feature of the second patient (aged 25 years), was the presence of a large myelolipoma in her right adrenal gland. Conclusions: 17 alpha-hydroxylase patients are usually diagnosed late, and unlike patients with other forms of congenital adrenal hyperplasia, hypertension is the major finding, and 10% - 15% of patients have normal blood pressure at diagnosis. The delay in diagnosis causes hypertension and renovascular changes, psychological problems, osteoporosis, and irreversible damage to breast tissue.

Hypertension, hypokalemia, and left adrenal tumor mimicking primary aldosteronism in a patient with 17α-hydroxylase deficiency

17α-hydroxylase deficiency (17OHD) is a rare disorder of secondary hypertension caused by congenital adrenal hyperplasia. In addition, co-occurrence of an adrenal tumor with 17OHD is extremely rare and easily misdiagnosed. A 33-year-old female with sicca syndrome, persistent hypertension, hypokalemia, and a left adrenal tumor was referred for confirmation of primary aldosteronism. However, the absence of secondary sexual characteristics, persistent growth beyond puberty, and laboratory data of low plasma renin activity, high aldosterone, low cortisol, low sex hormones, elevated adrenocorticotropic hormone, elevated luteinizing hormone, elevated follicle-stimulating hormone, and most importantly, decreased 17-hydroxypregnenolone, supported a diagnosis of 17OHD. We sequenced the CYP17A1 gene of the patient and her parents, which demonstrated genetic defects (D487-S,488-F489 deletion and Y329K418X). 17OHD was diagnosed. The left adrenal tumor was assessed, and a non-functional adrenal incidentaloma was confirmed; NP-59 adrenal cortical scintigraphy and adrenal venous sampling showed no functional activity and non-lateralization. Hormone replacements with estrogen, spironolactone, and prednisolone were given. The patient became more feminized and confident, and her hypertension was controlled. Early diagnosis and treatment of 17OHD not only can prevent delay development of secondary sexual characteristics but also help the patient maintain mental health and improve their quality of life. In addition, the concomitant presence of a left adrenal tumor makes misdiagnosis of a functional adenoma more likely, possibly causing unnecessary surgery and delay inappropriate treatment.

Study on six patients with 17α-hydroxylase/17, 20-lyase deficiency

Objective To improve the understanding of 17α-hydroxylase/17, 20-lyase deficiency(17OHD)disease. Methods The clinical data of six patients suffering from 17OHD were analyzed retrospectively. Results Two patients with complete combined defect had typical clinical presentations, including absence of secondary sexual characteristics, primary amenorrhea, hypertension, hypokalamia, lower gonadal hormone levels, as well as elevated corticotropin and progesterone levels. TAC329AA homozygous mutation, IVS1+ 2T>C, and c. 775_776delAT complex heterozygous mutation were found in 2 cases. Four cases of partial combined defect showed high progesterone, lower gonadal hormones and dehydroepiandrosterone-sulfate levels. Three females(46, XX)showed spontaneous menstrual and primary infertility, and two of them got successful pregnancy with assisted reproductive technology. TAC329AA heterozygous mutation was found in those 4 cases. Conclusions TAC329AA mutation is common in 17OHD, and heterozygous or homozygous mutation of TAC329AA may be the genetic and molecular basis for determining whether these patients present as partial or complete defect. The elevated plasma progesterone in non-pregnancy combined with lower gonadal hormones and dehydroepiandrosterone-sulfate is the main character of patients with partial 17OHD. Less severe patients may be able to get successful pregnancy with assisted reproductive technology. Key words: 17α-hydroxylase/17, 20-lyase deficiency; CYP17A1 gene; Progesterone; Dehydroepiandrosterone-sulfate

Etiological factors of primary amenorrhoea: A prospective study

Amenorrhoea is absence of menses in women of reproductive age. Primary amenorrhea is defined either as absence of menarche by 14 years of age in the absence of secondary sexual characteristics or absence of menses by 16 years in the presence of normal growth and secondary sexual characteristics. Secondary amenorrhea is characterized as the cessation of previously regular menses for three months or previously irregular menses for six months. According to World Health Organization estimates, amenorrhea stands as sixth largest major cause of female infertility and affects 2–5% of all women in the child bearing age.1,2 In the present study, 3 patients presented before 15yrs of age, 12 patients presented in the age group of 16 -20 years, 5 patients of 21-25yrs age group, 1 patients of 26-30 years age group, 1 patients of 30-40 years age group and past 40yrs was seen in 2 patients. The complaint of not having attained menarche is seen in only 11 cases, dyspareunia in 4 cases, cyclical pain abdomen in 3 cases, dysuria were seen in 2 cases, infertility and short stature was seen in 2 cases each and malnutrition was in one case. Our study found MRKH syndrome in 10 cases and HGH in 8 cases. Next most important cause is cryptomenorrhoea in 3 cases. AIS was seen in 2 cases followed by PCOS and imperforate hymen each in one case. Treatment for primary amenorrhea may start with watchful waiting, depending on the person's age and the result of the ovary function test. If there is a family history of late menstruation, periods may start in time. If there are genetic or physical problems that involve the reproductive organs, surgery may be necessary. This will not guarantee, however, that normal menstrual cycles will occur.

Turner's Syndrome: Approach to Diagnosis and Treatment

Turner's syndrome is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It is characterized by short stature and absence of secondary sexual characteristics. It is diagnosed by increased plasma FSH and LH level with low level of estrogen i.e. hypergonadotrophic hypogonadism. Ultrasound abdomen reveals streak ovaries and atrophic uterus. Karyotype confirms the diagnosis of Turner's syndrome (45XO).&#x0D; We present here a 15 years girl who presented with primary amenorrhea with short stature with breast development corresponds to Tanner stage I. Her FSH was raised. Ultrasound abdomen showed uterine agenesis and streak ovaries. Karyotype showed 45XO which confirmed the diagnosis of Turner's syndrome. She is now on estrogen therapy and her height has increased and breast development corresponds to Tanner stage II.&#x0D; Keywords: hypergonadotrophic hypogonadism, primary amenorrhea, Turner's syndrome

Study of Primary Amenorrhea with etiology in out door patient of Rupganj Upazilla Health Complex

Background : Amenorrhea means without menstruation. Primary Amenorrhea is the absence of menstruation by 16 years of age in the presence of normal secondary sexual characteristics or by 14 years of age if secondary sexual characteristics have not developed.Objectives : To explore the prevalence of Primary Amenorrhea with etiology in outdoor patient with limited investigation sourcesMethods : This was a cross sectional study conducted at Rupganj Upazila Health Complex (UHC) from January 2014 to June 2016. During this period total 2500 patients attended at Gynae out patient department (OPD). Among them 45 patients was sorted out with Primary amenorrhea. History and physical examination was done for presence or absence of secondary sexual characteristics, external genital abnormalities. Investigations were ultrasonogram (USG), Hormonal test were Follicle stimulating Hormone (FSH), Lutilizing hormones (LH), Serum Prolactin, Thyroid Stimulating Hormone. Karyotyping done. Data were analysed by using SPSS version 20.Result : In our study prevalence of Primary Amenorrhea was 1.8%. Among them infantile uterus was 17.78%, imperforated hymen was 13.33%. Turner mosaic 11.4%, mullarian agenesis 6.66%, gonadal agenesis-4.45%. hypothyroid 8.89%, hyperprolactenemia-8.89%, and 11.11% patients were with positive progesterone challenge test without anatomical and hormonal abnormalities.Conclusion : Considering the study result, Infantile uterus was the most prevalent etiological factor of amenorrhoea followed by imperforated hymen and Turner mosaic.Northern International Medical College Journal Vol.9(2) Jan 2018: 300-303