scholarly journals Atypical genotype in a typical phenotype

2021 ◽  
Vol 5 (3) ◽  
pp. 01-04
Author(s):  
Diksha Shirodkar
Keyword(s):  
Vitamin D ◽  
Cell Lines ◽  
Hormone Replacement ◽  
Medical Attention ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Recurrent Abortions ◽  
Laboratory Investigations ◽  
Carrying Angle ◽  
Maturity Rating

Introduction: Usually, onset of thelarche heralds puberty. Delayed puberty is worrisome and needs medical attention. Our patient in her late adolescence presented with primary amenorrhea, whose evaluation left us surprised. Case report: An eighteen-year-old scholastically backward girl, presented with complaints of not attaining menarche. Physical examination included a height of 156 cm(10th-25thcentile),weight 51 kg(50th centile), wide carrying angle, multiple nevi and a broad chest, however no other Turner stigmata was noted. Her sexual maturity rating (SMR) was A2P2B1 Laboratory investigations revealed increased gonadotropins (FSH:77mIU/ml; LH:25.4mIU/ml), low estradiol (14 pg/ml) and vitamin-D deficiency (21ng/ml). Ultrasonography of abdomen-pelvis showed small infantile uterus with streak ovaries. Karyotype (50 metaphases) demonstrated mosaicism [47,XXX (29)/45,X(19)/46,XX(2)]. Hormone replacement therapy and vitamin D replacement was initiated. Conclusion: 30-40% of the Turner syndrome are mosaics, the most common being 45,X/46,XX. Mosaicism is the presence of 2 or more cell lines with different chromosomal constitutions. The cell lines are derived due mostly to postzygotic mitotic nondisjunction. X/XX/XXX can present with or without classical turner stigmata. Trisomy X has a spectrum of presentation from normal menses and fertility to recurrent abortions and primary/secondary amenorrhea (primary ovarian insufficiency). Varied clinical phenotype due to three cell lines in a Turner mosaic makes this case unique.

scholarly journals Atypical genotype in a typical phenotype

2021 ◽  
Vol 5 (3) ◽  
pp. 01-04
Author(s):  
Shirodkar D
Keyword(s):  
Vitamin D ◽  
Cell Lines ◽  
Hormone Replacement ◽  
Medical Attention ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Recurrent Abortions ◽  
Laboratory Investigations ◽  
Carrying Angle ◽  
Maturity Rating

Introduction: Usually, onset of thelarche heralds puberty. Delayed puberty is worrisome and needs medical attention. Our patient in her late adolescence presented with primary amenorrhea, whose evaluation left us surprised. Case report: An eighteen-year-old scholastically backward girl, presented with complaints of not attaining menarche. Physical examination included a height of 156 cm(10th-25thcentile),weight 51 kg(50th centile), wide carrying angle, multiple nevi and a broad chest, however no other Turner stigmata was noted. Her sexual maturity rating (SMR) was A2P2B1 Laboratory investigations revealed increased gonadotropins (FSH:77mIU/ml; LH:25.4mIU/ml), low estradiol (14 pg/ml) and vitamin-D deficiency (21ng/ml). Ultrasonography of abdomen-pelvis showed small infantile uterus with streak ovaries. Karyotype (50 metaphases) demonstrated mosaicism [47,XXX (29)/45,X(19)/46,XX(2)]. Hormone replacement therapy and vitamin D replacement was initiated. Conclusion: 30-40% of the Turner syndrome are mosaics, the most common being 45,X/46,XX. Mosaicism is the presence of 2 or more cell lines with different chromosomal constitutions. The cell lines are derived due mostly to postzygotic mitotic nondisjunction. X/XX/XXX can present with or without classical turner stigmata. Trisomy X has a spectrum of presentation from normal menses and fertility to recurrent abortions and primary/secondary amenorrhea (primary ovarian insufficiency). Varied clinical phenotype due to three cell lines in a Turner mosaic makes this case unique.

scholarly journals SUN-069 A 14 Year Old Female with Primary Amenorrhea

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Varshini Chakravarthy ◽  
Sehar Ejaz
Keyword(s):  
Hormone Replacement ◽  
Breast Development ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Total Testosterone ◽  
Normal Limits ◽  
Disorder Of Sexual Development ◽  
Slow Progression ◽  
History Of ◽  
Swyer Syndrome

Abstract Background: Swyer Syndrome is an extremely rare disorder of sexual development. These patients often present with primary amenorrhea during adolescence and are phenotypically female with 46 XY chromosomes. Given the association of invasive gonadal malignancies with this disorder, suspicion should be high in patients who present with a stagnant or decreased rate of pubertal progression. We present a case of Swyer Syndrome in a 14-year-old female with primary amenorrhea in the setting of decreased pubertal progression. Case: A 14-year-old female presents with a chief complaint of primary amenorrhea. She first noticed breast budding 2 years prior but reports no significant increase in breast tissue over the last 2 years. She does not appreciate any other signs of puberty. She denies any acne, body odor, hirsutism, hair loss, or abdominal/pelvic pain. She denies any changes in her diet or physical activity and is not on any medication. No history of cancer, surgeries, or radiation exposure. There is no family history of infertility or delayed puberty. Her vitals on presentation are within normal limits. Her growth parameters are the following: weight-69.9 kilos, height-163 cm, and BMI-26.3. Physical exam shows a well-appearing adolescent with grossly female external genitalia and the breast exam is SMR II. No pubic or axillary hair appreciated on the exam. Although our patient did not meet the traditional definition of primary amenorrhea, a workup was started due to the slow progression of puberty. Initial blood testing shows normal blood count, electrolytes and thyroid levels. DHEA-S androstenedione, free and total testosterone were all within normal limits. Further results such as LH (25.4 uIU/mL), FSH (56.5 mIU/mL) and estradiol (22 pg/mL) along with low levels of AMH (0.52 ng/mL) and inhibin A (1pg/mL) confirms suspicion for ovarian insufficiency. Chromosomal analysis and pelvic ultrasound findings of a small uterus and ovaries led to our diagnosis of Swyer syndrome. Our patient had surgical resection of both ovaries and fallopian tubes and the ovarian pathology showed gonadoblastoma with invasive dysgerminoma in both gonads. She was started on hormone replacement after gonadectomy. Conclusion: Although Swyer syndrome is uncommon with an incidence of 1 in 80,000, this case illustrates that suspicion for Swyer Syndrome should be high in patients with slow progression of puberty and primary amenorrhea (1). Early diagnosis is critical, as patients with gonadal dysgenesis are at great risk for germ cell cancers. Though most of these patients have an identifiable genetic mutation, we were unable to elicit the exact mutation in our patient despite whole-genome sequencing. References: Jaideep Khare, Prasun Deb, Prachi Srivastava & Babul H. Reddy (2017) Swyer syndrome: The gender swayer?, Alexandria Journal of Medicine, 53:2, 197–200, DOI: 10.1016/j.ajme.2016.05.006 Varshini Chakravarthy, Sehar Ejaz. A 16-Year-Old With Amenorrhea and Delayed Breast Development - Medscape - Jan 14, 2020

Successful treatment of short stature with growth hormone replacement therapy in a patient with anorexia nervosa

2015 ◽  
Vol 29 (4) ◽  
Author(s):  
Yuji Koike ◽  
Masaya Akibayashi ◽  
Yukako Yokouchi
Keyword(s):  
Growth Hormone ◽  
Anorexia Nervosa ◽  
Replacement Therapy ◽  
Short Stature ◽  
Hormone Replacement ◽  
Bone Age ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Gh Treatment ◽  
Igf I

Abstract A 19-year-old woman visited our outpatient clinic requesting treatment for short stature. She had been repeatedly hospitalized at a psychiatric unit and was subsequently diagnosed with anorexia nervosa (AN). She was 139.3 cm (–3.6 SD) tall and weighed 25.5 kg (23% lower than standard weight). She had primary amenorrhea and her bone age (BA) was 11.8 years. She had low insulin-like growth factor (IGF)-I (80 ng/mL) and a basal growth hormone (GH) level of 1.47 ng/mL. Treatment with recombinant GH was initiated. At 22 years of age, she was 152.2 cm (–1.1 SD) tall and weighed 39.7 kg. As she had shown a favorable response to GH treatment, therapy was discontinued. We suggest that it is worthwhile treating AN patients with GH replacement therapy for short stature, once low IGF-I levels without GH resistance, delayed puberty, delay in BA, and nutritional stabilization are taken into consideration.

scholarly journals XY Female: Two Cases with Different Gonads presenting as Primary Amenorrhea

2012 ◽  
Vol 4 (1) ◽  
pp. 23-25
Author(s):  
Badekai Poornima Ramachandra Bhat ◽  
H Mahesha Navada
Keyword(s):  
Hormone Replacement ◽  
Tumor Development ◽  
Androgen Insensitivity Syndrome ◽  
The Other ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Swyer Syndrome ◽  
Xy Female

ABSTRACT Two 18-year-old female patients admitted to the hospital with the complaints of primary amenorrhea. The clinical examination and investigations revealed one of them as complete androgen insensitivity syndrome and the other Swyer syndrome. Bilateral gonadectomy was performed and hormone replacement therapy started for both the patients. These two conditions should be considered in the differential diagnosis in every adolescent female patient with delayed puberty and the importance of early gonadectomy should be stressed in order to avoid the risk of gonadal tumor development. How to cite this article Bhat BPR, Navada HM. XY Female: Two Cases with Different Gonads presenting as Primary Amenorrhea. World J Endocr Surg 2012;4(1):23-25.

scholarly journals Complete Androgen Insensitivity Syndrome: From Bench to Bed

2021 ◽  
Vol 22 (3) ◽  
pp. 1264
Author(s):  
Nina Tyutyusheva ◽  
Ilaria Mancini ◽  
Giampiero Igli Baroncelli ◽  
Sofia D’Elios ◽  
Diego Peroni ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Hormone Replacement ◽  
Basic Research ◽  
Well Being ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

scholarly journals Menarche in primary ovarian insufficiency after a month of hormone replacement therapy: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Biwen Cheng
Keyword(s):  
Replacement Therapy ◽  
Hormone Replacement ◽  
Estrogen Therapy ◽  
Primary Ovarian Insufficiency ◽  
Hormonal Replacement Therapy ◽  
Delayed Puberty ◽  
Ovarian Insufficiency ◽  
Breakthrough Bleeding ◽  
Hormonal Replacement ◽  
Ovarian Dysgenesis

Abstract Background Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are some of the several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency is reported in the clinical practice of reproductive endocrinology can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis. However, confirmation of Mullerian agenesis by image modalities can be extremely challenging. Once the diagnosis is established, breakthrough bleeding usually occurs 2 to 3 years after hormonal replacement therapy. Case presentation We report a case of a seventeen year old Taiwanese female, 46 XX karyotype, with ovarian dysgenesis and an initial tentative diagnosis of uterine agenesis who experienced a breakthrough bleeding after a month of hormonal replacement therapy. Conclusions The breakthrough bleeding after a month of estrogen therapy in primary ovarian insufficiency is uncommon, and the diagnosis of the absent uterus can have an extensive psychological impact on patients and their families.

scholarly journals Comparative activity of pulsed or continuous estradiol exposure on gene expression and proliferation of normal and tumoral human breast cells

2002 ◽  
Vol 28 (3) ◽  
pp. 165-175 ◽  
Author(s):  
V Cavailles ◽  
A Gompel ◽  
MC Portois ◽  
S Thenot ◽  
N Mabon ◽  
...  
Keyword(s):  
Gene Expression ◽  
Cell Lines ◽  
Hormone Replacement ◽  
Primary Cultures ◽  
Continuous Treatment ◽  
Luciferase Reporter ◽  
Breast Cancer Cell Lines ◽  
Human Breast ◽  
Kinetic Profile ◽  
Breast Cells

Intranasal administration of hormone replacement therapy presents an original plasma kinetic profile with transient estrogen levels giving rise to the concept of pulsed therapy. To further understand the molecular effects of this new therapy, we have compared the effects of pulsed and continuous estradiol treatments on two critical aspects of estradiol action: gene expression and cell proliferation. Cells were stimulated with estradiol as 1-h pulsed or 24-h continuous treatments at concentrations such that the 24-h exposure (concentration x time) was identical in both conditions. In MCF7 cells, the transcriptional activity of estrogen receptors (ER) on a transiently transfected responsive estrogen response element-luciferase reporter construct was shown to be drastically (approximately 10-fold) and similarly stimulated after both treatments. Moreover, the increased mRNA expression of three representative estradiol-sensitive genes (pS2, cathepsin D, progesterone receptor), evaluated by Northern blot, was identical after 1-h pulse with 7 nM estradiol or continuous treatment with 0.29 nM estradiol with the same kinetic profile over 48 h. Proliferation was quantified by a histomorphometric method on primary cultures of human normal breast cells from reduction mammoplasties and using a fluorescence DNA assay in six human breast cancer cell lines which were ER positive or negative. After a 7-day treatment period, estradiol had no effect on the proliferation of the three ER negative cell lines (BT20, MDA MB231, SK BR3) but significantly stimulated the proliferation of the normal cells and of the three tumoral hormone-sensitive cell lines (MCF7, T47D, ZR 75-1); both hormone treatments producing the same increases in cell growth. In conclusion, we have shown that the genomic or proliferative effects of estradiol were identical with pulsed or continuous treatments, thus indicating that estrogenic effects are not strictly related to concentrations but rather to total hormone exposure.

scholarly journals Differential responsiveness of intestinal epithelial cells to 1,25-dihydroxyvitamin D3--role of protein kinase C

2001 ◽  
Vol 169 (1) ◽  
pp. 145-151 ◽  
Author(s):  
HJ Armbrecht ◽  
MA Boltz ◽  
TL Hodam ◽  
VB Kumar
Keyword(s):  
Vitamin D ◽  
Protein Kinase C ◽  
Protein Kinase ◽  
Cell Lines ◽  
Phorbol Esters ◽  
Mrna Levels ◽  
Intestinal Epithelial ◽  
Vitamin D Receptors ◽  
Kinase C ◽  
Crypt Cells

Non-transformed rat intestinal epithelial cell (IEC) lines were used to study the action of 1,25-dihydroxyvitamin D(3) (1,25(OH)2D) in the intestine. The capacity of 1,25(OH)2D to increase the expression of the cytochrome P450 component of the vitamin D 24-hydroxylase (CYP24) was determined in IEC-6 and IEC-18 cell lines. In IEC-6 cells, which are derived from crypt cells isolated from the whole small intestine, 1,25(OH)2D markedly increased expression of CYP24 protein and mRNA within 12 h. In contrast, in IEC-18 cells, which are derived from crypt cells from the ileum only, 1,25(OH)2D did not increase expression of CYP24 until 24-48 h. The maximal levels of CYP24 mRNA seen in the IEC-18 cells were only 31% of the maximal levels seen in the IEC-6 cells. In the presence of 1,25(OH)2D, phorbol esters rapidly increased CYP24 mRNA levels in IEC-18 cells from almost undetectable to levels seen in IEC-6 cells. Protein kinase inhibitors abolished the stimulation by 1,25(OH)2D and by phorbol esters in both cell lines. Stimulation of mRNA levels by phorbol esters required new protein synthesis but stimulation by 1,25(OH)2D did not. These studies demonstrated that the rapid action of 1,25(OH)2D in IEC-6 cells is related to the activation of protein kinase C, an event which is missing in the IEC-18 cells. This differential response to 1,25(OH)2D probably takes place at a post-receptor site, since the number of vitamin D receptors in each cell line was found to be similar.

Vitamin D as Radiosensitizer: A Review in Cell Line -

2020 ◽  
Vol 10 (6) ◽  
pp. 315-324
Author(s):  
Fahmi Radityamurti ◽  
Fauzan Herdian ◽  
Tiara Bunga Mayang Permata ◽  
Handoko Handoko ◽  
Henry Kodrat ◽  
...  
Keyword(s):  
Vitamin D ◽  
Cell Differentiation ◽  
Cell Line ◽  
Cell Lines ◽  
Anticancer Agent ◽  
Medical Literature ◽  
In Vitro Studies ◽  
Anti Cancer

Introduction: Vitamin D has been shown to have anti-cancer properties such as antioxidants, anti-proliferative, and cell differentiation. The property of vitamin D as an anticancer agent triggers researchers to find out whether vitamin D is useful as a radiosensitizer. Multiple studies have been carried out on cell lines in various types of cancer, but the benefits of vitamin D as a radiosensitizer still controversial. This paperwork aims to investigate the utilization of Vitamin D3 (Calcitriol) as radiosensitizer in various cell line through literature review.Methods: A systematic search of available medical literature databases was performed on in-vitro studies with Vitamin D as a radiosensitizer in all types of cell lines. A total of 11 in-vitro studies were evaluated.Results: Nine studies in this review showed a significant effect of Vitamin D as a radiosensitizer agent by promoting cytotoxic autophagy, increasing apoptosis, inhibiting of cell survival and proliferation, promoting gene in ReIB inhibition, inducing senescene and necrosis. The two remaining studies showed no significant effect in the radiosensitizing mechanism of Vitamin D due to lack of evidence in-vitro settings.Conclusion: Vitamin D have anticancer property and can be used as a radiosensitizer by imploring various mechanism pathways in various cell lines. Further research especially in-vivo settings need to be evaluated.

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