Normal Secondary Sexual Characteristics Research Articles

Sonographic presentation acute hematometra and massive hematocolpos in a pubertal girl: A case report

Background: Imperforate hymen is an uncommon obstructive congenital anomaly of the female external reproductive channel due to lack of canalization (lower) vaginal plate between the vaginal and urogenital sinus; with a prevalence rate of less < 0.1%. Hematocolpos / imperforate hymen with heamatometra often presents as a pelvic mass that compresses the urinary bladder causing acute urine retention and pain.
 Case presentation: A 14-year-old presented with lower abdominal pain for 5 months. Patient physical examination revealed normal secondary sexual characteristics with a thickened than normal hymen. She presented with delayed menarche; a physician earlier prescribed analgesic and anthelmintic medication for pain management. After conservative hymenotomy about 360ml of dark-tan haem (blood) was drained in few minutes. Postoperative recovery was uneventful; normal menstruation occurred after 4 weeks. 
 Conclusion: Diagnosis through physical examination and ultrasound requires vigilance and a high degree of suspicion; virginity sparing is a viable treatment option due to social reasons and religious beliefs.

English

BACKGROUND Mayer-Rokitansky-Küster-Hauser Syndrome or MRKH Syndrome is a rare condition and is the second most common cause of primary amenorrhea, comprising of vaginal atresia (upper two thirds), rudimentary uterus, normal fallopian tubes, ovaries, broad and round ligaments. The spectrum of uterine anomalies (hypoplasia or duplication) include a partial lumen to a bicornuate or septate uterus with obstruction (unilateral or bilateral). The incidence is 1 in 4500 - 5000 female live births, presenting with primary amenorrhoea. The secondary sexual characteristics, external genitalia, ovaries and karyotype are normal. There are two types - the first type is the isolated form and the second type also termed as MURCS association [Müllerian duct aplasia, renal dysplasia-agenesis, hydronephrosis, horseshoe kidney and cervicothoracic anomalies such as fused vertebrae, scoliosis etc.]. Initial assessment with ultrasound scan of abdomen and pelvis followed by MRI study of the abdomen and pelvis are the imaging modalities of choice. METHODS This is a case series of 9 female patients who had presented to the Department of Obstetrics & Gynaecology and the Department of Radiodiagnosis from July 2019 to June 2020, aged between 15 and 20 years with a chief complaint of anxiety due to primary amenorrhoea. Following a thorough clinical, gynaecological and biochemical evaluation (levels of FSH, LH and 17 beta oestradiol), radiological examination (ultrasound and MRI - abdomen and pelvis) was conducted. RESULTS In our study, out of a total of nine cases, six cases were MRKH Type I and three were MRKH Type 2. All the nine cases presented with primary amenorrhoea, normal secondary sexual characteristics (except one case with ectopic atrophic ovaries) and normal external genitalia. Available hormonal profile was unremarkable. Uterus was not palpable on PV and per speculum examination. Along with the above features, when features of only hypoplastic / infantile / rudimentary / absent uterus with hypoplastic / absent upper two thirds of vagina, normal pelvic ovaries or ectopic inguinal ovaries was present, a diagnosis of MRKH Type–I was given. With additional features of renal abnormalities or skeletal system abnormalities, a diagnosis of MRKH Type–II was given. CONCLUSIONS MRKH syndrome is a condition caused due to the failure of fusion of Müllerian duct derivatives. It affects 1 in 4500 - 5000 female live births. It is a class I Mullerian duct anomaly including vaginal atresia, uterine anomalies & malformations of the upper urinary tract. There are two types in this. USG and MRI of the abdomen and pelvis are helpful in imaging this condition. KEYWORDS MRKH Syndrome, Ultrasound, MRI, MURCS Association

Sigmoid vaginoplasty in Mayer-Rokitansky-Kuster-Hauser syndrome

IntroductionMayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina, with normal female secondary sexual characteristics and a normal karyotype (46, XX). The frequency is 1/4500–5000 female births. The aim of this study was to report the management of MRKH syndrome with sigmoid vaginoplasty.Patients and methodThis study included 4 patients recruited over a 4-year period from February 2016 to January 2019. MRKH syndrome was retained in the presence of normal secondary sexual characteristics with normal external genitalia associated with vaginal aplasia and uterine agenesis. The approach was a laparotomy and a perineal approach under general anesthesia. The procedure involved the removal of a sigmoidal colonic graft that was anastomosed with the vaginal dimple.ResultsThe average age was 23 years. All patients had consulted for primary amenorrhea, infertility, and/or difficulties in sexual intercourse. The diagnosis of MRKH type 1 was retained in all patients. The average length of the vagina was 3.25 cm before surgery and 13.63 cm after surgery. The postoperative outcomes were uneventful in 3 patients. One patient developed anastomotic stenosis that was successfully treated with vaginal dilation for 2 weeks. The average postoperative follow-up was 30 months.ConclusionIn the context of a low-resource setting, sigmoid transposition represents a good procedure to treat vaginal aplasia and restore a satisfactory sexual activity to patients with MRKH type 1.

Long-term outcome of Fowler-Stephens surgical treatment in intraperitoneal cryptochidism: single center report

Fowler-Stephens (FS) Surgical treatment is used widely in intraperitoneal cryptorchidism. There is limited long-term follow up data which is necessary to evaluate the efficacy of FS laparoscopic surgeries. Methods: 19 patients with 28 cryptorchid testes managed by two stage FS orchidopexy at the urology department of Children’s Hospital of CQMU from January 2009 to March 2019 were reviewed. Average age was 5.5 years old. All patients were treated with laparoscopic FS stage 1 surgery, and Stage 2 surgery was performed 3-10 months later. Average time between the two stages was 6.4 months. Testicular volume, blood supply, testicular location, adolescent semen analysis, sex hormone levels and secondary sexual characteristics were reviewed at follow up. All surgeries were successful and all testes could be palpated in the scrotum after surgery. All patients were followed up from 1 month to 10 years, except 5 lost to follow-up. Average time of follow up was 2.8 years. During follow up, growth and good blood supply were detected in all testes except one. There was no significant change in testicular volume compared with average level of the respective ages, and no testicular malignant change was observed. 5 children were reviewed after puberty. They showed normal levels of sex hormone and normal secondary sexual characteristics. FS staged surgery is an effective and safe treatment for high cryptorchidism with a high success rate.

A rare form of Mayer-Rokitansky-Küster-Hauser syndrome: Case report and review of literature

IntroductionPrimary amenorrhea is failure to reach menarche. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea, after gonadal dysgenesis. Herein, we report a rare case of an unusual subtype of MRKH syndrome.Case ReportThis report describes the case of a 28-year-old woman with primary amenorrhea and coital difficulties. On examination, she had normal secondary sexual characteristics but a blind-ending vagina. Her hormonal profile was within normal limits; ultrasound examination was inconclusive due to technical difficulties. Subsequently, she underwent pelvic magnetic resonance imaging, which revealed bilateral rudimentary uterine horns in the presence of normal ovaries and normal length of a blind-ending narrow vagina.ConclusionMRKH syndrome with bilateral rudimentary uterine horns and normal-length vagina is an unusual form of Müllerian agenesis.

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.

Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood

A 53-year-old male referred to our centre because of hypergonadotropic hypogonadism detected during urological follow-up for urethral lithiasis. Physical examination showed short stature, micropenis, ambiguous external genitalia, and normal secondary sexual characteristics. Karyotype: 45 × 0/46XY. Abdominal MRI revealed the presence of uterus-like structure, right annex, and left testes without prostate. He underwent laparoscopic removal of dysgenetic tissues; histologic examination confirmed the presence of little uterus, fallopian tubes, little atrophic ovary, and vaginal tract; left testes was atrophic with sclero-jalinosis of seminal tubes and Leydig's cells hyperplasia. Testosterone replacement therapy was started after surgery and prostate became MRI visible after 2 years.

63: Robotic assisted sigmoid vaginoplasty in an adolescent girl with vaginal agenesis

To demonstrate the approach of a robotically assisted sigmoid vaginoplasty in an adolescent girl with vaginal agenesis. A 17 year-old girl was referred to our center for management options of vaginal agenesis. She presented to her primary OBGYN with complaints of primary amenorrhea. Examination revealed a vaginal “dimple” with normal external genitalia and secondary sexual characteristics. Her work up was notable for MRI of her pelvis showing normal appearing ovaries with absence of a vagina, cervix, and uterus. Additionally, her abdominal ultrasound revealed normal bilateral kidneys. Given her findings in addition to a normal chromosomal analysis, she was diagnosed with vaginal agenesis. During her evaluation at our center, she was counseled extensively on the surgical and non-surgical treatment options including the risks and benefits involved with each method. She opted for the robotic assisted sigmoid vaginoplasty. The procedure was successfully performed by a surgical team that included female pelvic medicine & reconstructive surgery, plastic surgery, and colorectal surgery. The procedure demonstrates the minimally invasive approach to harvesting a sigmoid colon segment for vaginoplasty. The robotic assisted sigmoidvaginoplasty is a feasible and minimally invasive technique to surgically treat vaginal agenesis.

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

G Protein-Coupled Estrogen Receptor Is Not Required for Sex Determination or Ovary Function in Zebrafish.

Estrogens regulate vertebrate development and function through binding to nuclear estrogen receptors α and β (ERα and ERβ) and the G protein-coupled estrogen receptor (GPER). Studies in mutant animal models demonstrated that ERα and ERβ are required for normal ovary development and function. However, the degree to which GPER signaling contributes to ovary development and function is less well understood. Previous studies using cultured fish oocytes found that estradiol inhibits oocyte maturation in a GPER-dependent manner, but whether GPER regulates oocyte maturation in vivo is not known. To test the hypothesis that GPER regulates oocyte maturation in vivo, we assayed ovary development and function in gper mutant zebrafish. We found that homozygous mutant gper embryos developed into male and female adults with normal sex ratios. Adult mutant fish exhibited normal secondary sex characteristics and fertility. Additionally, mutant ovaries were histologically normal. We observed no differences in the number of immature versus mature oocytes in mutant versus wild-type ovaries from both young and aged adults. Furthermore, expression of genes associated with sex determination and ovary function was normal in gper mutant ovaries compared with wild type. Our findings suggest that GPER is not required for sex determination, ovary development, or fertility in zebrafish.

Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene

Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked recessive genetic disease characterized by resistance to the actions of androgens in an individual with a male karyotype and it is caused by mutations in the androgen receptor (AR) gene. We evaluated two siblings with primary amenorrhea, normal secondary sex characteristics, absence of uterus and ovaries, intra-abdominal testis, and elevated testosterone levels. Sequence analysis of the AR gene revealed a splice acceptor site mutation in intron 2 (c.1769-1G > C). The analysis of mRNA showed that this mutation resulted in the activation of a cryptic splice acceptor site located in intron 2 and in the synthesis of an aberrant mRNA transcript with 69 nucleotides insertion between exon 2 and exon 3, leading to an insertion of 23 amino acids in the AR protein instead of generating a premature termination codon. The additional 23 amino acids insertion affects AR intracellular trafficking by impairing its translocation from the cytoplasm to the nucleus after hormone stimulation. The c.1769-1G > C mutation provides new insights into the molecular mechanism involved in splicing defects and expands the spectrum of mutations associated with the androgen insensitivity syndrome.

A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens?

BackgroundThe simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess.Case reportWe report the 4th case of association of KS and CAH in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume. He was the first reported case of association of KS and CAH who started androgen replacement therapy in the pubertal age and whose pubertal development was described and followed up step by step.ConclusionIn a boy with CAH and small testicular volume, it’s important to consider that hypogonadism may be masked by the adrenal androgens excess and a karyotype should be performed once testicular adrenal rests have been ruled out.

Ileum neovaginoplasty for Mayer–Rokitansky–Küster–Hauser: Review and case series

ObjectiveTo review treatment modalities of Mayer–Rokitansky–Küster–Hauser syndrome, and to present further evidence on the successful use of ileum segment as an additional procedure for the creation of a neovagina. MethodsFive women presented with primary amenorrhea, normal secondary female sexual characteristics, normal external anatomy, shortening of the vagina, with only vaginal dimples. Abdominal ultrasound scans suggested the absence of uterus. Both ovaries were present with normal kidneys. Karyotyping confirmed XX genotype. Pelvi-abdominal MRI confirmed the diagnoses. All patients were started on nonsurgical treatment, in the form of graduated dilators, as a first-line approach. This was not acceptable to the patients. Decisions were made to resort to ileum vaginoplasty. ResultsThe mean surgical time was 5h. Three patients sustained intra-operative bladder injury. All patients reported watery vaginal discharge. Four patients were followed up for 5 years, and were satisfied with their results. This was confirmed by clinical examination. The fifth patient failed to attend for immediate postoperative care. The vagina was 6–7cm long with introital stricture. ConclusionWomen with Mayer–Rokitansky–Küster–Hauser syndrome who need vaginal reconstruction have the surgical option of a vascularized free ileum graft that provides a durable, lubricated neovagina without the scarring of skin grafts.

Tratamiento de la ginecomastia. Diferencias entre la incisión periareolar externa y la incisión periareolar inferior en mastectomía subdérmica

IntroductionGynecomastia defines the benign enlargement of the mammary gland in man. There are several surgical approaches for resection of the lesion, each with different results. Material and methodsCross-sectional study. There were included patients with gynecomastia, operated by means of external and inferior periareolar incision. For randomization was took into account degrees IIb and III of Simon, distributing one to one for each type of incision, the cosmetic results were evaluated by an experienced surgeon, taking as excellent results when there was a proper healing without deformity of the area, good results when healing was good without deformity, and bad results when there was deformity of the operated area. ResultsThere were 24 patients, 50% operated by external periareolar incision and 50% by lower periareolar incision. The mean age was 25.58 and 27.58 years old for each group, with no significant statistically differences (P=.513).All patients had normal secondary sexual characteristics. The etiology was idiopathic in 23 (95.83%). The average evolution time was 32.28 months, on all histopathological result was gynecomastia.The evaluation of the aesthetic aspect of the incision and the area affected in patients operated by external periareolar incision (n=12) was bad to 1 (8.33%), good in 2 (16.66%) and excellent in 9 (75%) patients; 100% of the patients operated by inferior periareolar incision presented good results, there were statistically significant differences for both incisions, P=.000. There were no complications. ConclusionBoth incisions are safe, periareolar external incision provides better results than the inferior periareolar incision for patients with gynecomastia in all degrees of Simon.

Primary Amenorrhoea with Pituitary Dwarfism: A rare case report

Females with pituitary dwarfism and a multiple deficiency of pituitary hormones show ovarian dysfunction due to hypogonadotropism. Primary amenorrhea can be diagnosed if a patient has normal secondary sexual characteristics but no menarche by 16 years of age. A 16 year-old female patient admitted in general medicine department with chief complaints of shortness of breath on exertion since 15 days, swelling of both legs since 10 days, loss of weight since 5 months, loss of appetite since 3 months, history of pain during swallowing. Pelvis scan examination reveals that uterus measures 3.2×0.5×0.5cm; uterus is hypo plastic, ovaries not visualized. Patient parents reveled that from patient birth to 11years of age her growth and other developments were normal, after that her growth is stopped and no changes were observed in development since 5 years. Patient has hypothyroidism so pituitary gland make an important role to maintain hormone levels, pituitary gland produces thyroid stimulating hormone (TSH) which stimulates thyroid gland to produce thyroid hormones. Primary Amenorrhea, short stature and poorly developed secondary sexual characters which could have been contributed and should be subjected for karyotyping. This type of Pituitary Dwarfism is very difficult to manage.

Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene

The androgen insensitivity syndrome is an X-linked recessive genetic disorder characterized by resistance to the actions of androgens in an individual with a male karyotype. We evaluated a 34-year-old female with primary amenorrhea and a 46,XY karyotype, with normal secondary sex characteristics, absence of uterus and ovaries, intra-abdominal testis, and elevated testosterone levels. Sequence analysis of the androgen receptor (AR) gene revealed a novel splice donor site mutation in intron 4 (c.2173+2T>C). RT-PCR analysis showed that this mutation resulted in the activation of a cryptic splice donor site located in the second half of exon 4 and in the synthesis of a shorter mRNA transcript and an in-frame deletion of 41 amino acids. This novel mutation associated with a rare mechanism of abnormal splicing further expands the spectrum of mutations associated with the androgen insensitivity syndrome and may contribute to the understanding of the molecular mechanisms involved in splicing defects.

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.

Mayer-Rokitansky-Küster-Hauser (MRKH) patients are characterized by congenital aplasia of the uterus and the upper part of the vagina, with normal secondary sexual characteristics. This disorders affects one in 4000-5000 females and it is classified as typical, type I or isolated, and as atypical, type II, manifesting additional malformations. To date, no specific study has addressed the question of facial features in MRKH patients. The aim of this study is to perform a dysmorphological assessment of a large cohort of patients. We studied 115 women referred to our center from 2008 to 2012. Seventy-two percentage (83/115) of our patients showed isolated uterovaginal aplasia (MRKH type I); 32/115 (28%) had other abnormalities including kidney and cardiac defects, skeletal anomalies, and hearing impairment. Auxologic investigations comprised measurements of height, weight, BMI, head circumference, arm span, span to height ratio, hand length, middle finger length, foot length, inner and outer intercanthal distance, and auricle length. All patients had normal measurements, except for the outer canthal distance-inner canthal distance ratio, which was consistent with elongated eyelids. Women with MRKH syndromes do not present a typical facial feature and a dysmorphological examination of all patients seems unnecessary. However, a multidisciplinary approach is useful with respect to explaining the etiology, interpreting test results, and counseling.

Pure gonadal dysgenesis (46 XX type) with a familial pattern

46, XX gonadal dysgenesis without the phenotype of Turner's syndrome is described as “pure”. Although, previous investigations obtained that commonly gonadal dysgenesis did not cause breast development as a result of low levels of circulating estradiol. However, in this study, we aimed to report a familial pure gonadal dysgenesis with and without normal secondary sexual characteristics. In this study, we reported three siblings with pure gonadal dysgenesis with and without normal secondary sexual characteristics. The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no breast development (B1) and pubic hair. In addition, it seems that the absence of pubic hair occurred due to delayed constitutional puberty. According to results, it seems that clinicians should consider different presentations for pure gonadal dysgenesis with familial pattern.

A rare case of male infertility: Sertoli only syndrome

Sertoli cell-only syndrome (SCOS) is not an uncommon finding in testicular biopsies that are performed in patients with infertility. The salient histopathologic feature of SCOS is the absence of germ cells. Many of these patients have a normal karyotype and normal secondary male sexual characteristics, yet are infertile and azoospermic or severe oligozoospermic. This case report describes a 29-year-old male patient who presented with primary infertility, normal physical characteristics and hormonal profile with SCOS detected on testicular biopsy.

Mutational Analysis of the LHX1 Gene in a French National Cohort of Patients with Mayer-Rokitansky-Küster-Hauser Syndrome

Mutational Analysis of the LHX1 Gene in a French National Cohort of Patients with Mayer-Rokitansky-Kuster-Hauser Syndrome Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH syndrome) is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal secondary sexual characteristics development and a normal 46, XX karyotype. MRKH syndrome is a cause of primary amenorrhea with an incidence of approximately 1 in 5,000 newborn girls. Most cases of MRKH syndrome are sporadic, but some familial cases have been reported, suggesting a genetic cause. The genetic basis of MRKH syndrome remains largely unknown and seems heterogeneous. The LHX1 gene has been suggested to be a strong candidate, because (i) inactivation of the ortholog gene (Lim1) in the mouse model causes a Mullerian aplasia, and (ii) it is located in the chromosomal region 17q12, where deletions including this gene have been identified in approximately 5% of MRKH patients. Recently, three relevant heterozygous mutations of the LHX1 gene have been reported in association with the syndrome.