scholarly journals Decoding enigma: Turner syndrome with ring chromosome

2021 ◽  
Vol 2021 (11-12) ◽  
Author(s):  
Debarup Das ◽  
Debaditya Roy ◽  
Kaushik Basu ◽  
Anupam Sarkar
Keyword(s):  
Turner Syndrome ◽  
Hormone Replacement ◽  
Ring Chromosome ◽  
Young Female ◽  
Primary Amenorrhea ◽  
Cubitus Valgus ◽  
Mosaic Pattern ◽  
Oral Contraceptive Pills ◽  
Reduced Ejection Fraction ◽  
Contraceptive Pills

ABSTRACT Ring chromosome X is one of the rarest with some unique phenotypical features in Turner syndrome. A young female presented to us with anasarca developed over the past 2 months due to congestive cardiac failure along with jaundice and orthopnea. She had growth retardation, intellectual disability, primary amenorrhea, lack of secondary sexual character development and dysmorphic features like low posterior hairline, shield chest and cubitus valgus. She had dilated cardiomyopathy (DCM) with intracardiac thrombus on echocardiography. Skeletal survey revealed short fourth metacarpal/tarsal on limbs. Karyotyping showed a mosaic pattern, with 45, X/46, X,r(X)(p22.3q28), i.e. Turner syndrome karyotype with ring chromosome. Her heart failure with reduced ejection fraction was managed with vasopressor along with anticoagulant and given oral contraceptive pills for hormone replacement therapy. The ring chromosomal pattern of karyotype in this patient and DCM is a rare cardiological phenomenon that can be associated with Turner syndrome, making this case a unique one.

EXPRESS: Porphyria Cutanea Tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female

2021 ◽  
pp. 000456322098803
Author(s):  
Erum Rasheed ◽  
Sarah Savage ◽  
Elena Walsh ◽  
Nadia Brazil ◽  
Nicola Ralph ◽  
...  
Keyword(s):  
Oral Contraceptive ◽  
Ovarian Stimulation ◽  
Porphyria Cutanea Tarda ◽  
Hormone Replacement ◽  
Oocyte Retrieval ◽  
Fertility Treatment ◽  
Single Cycle ◽  
Oral Contraceptive Pills ◽  
Oral Estrogen ◽  
Contraceptive Pills

We report a case of 33-year old female with underlying genetic susceptibility for familial porphyria cutanea tarda (PCT) due to novel UROD variant (c.636+2 dupT) unmasked by transient exposure to supraphysiological estrogen levels following a single cycle of successful controlled ovarian stimulation for oocyte retrieval. Use of oral estrogen in the form of oral contraceptive pills and hormone replacement therapy has been well known to trigger active PCT phenotype in susceptible women. However, to date the emergence of clinically overt PCT has not been reported in association with fertility treatment in the literature before. Keywords: Familial PCT, UROD mutation, Ovarian stimulation, Estrogen

scholarly journals Reproductive Factors and the Risk of Incident Dementia: Results From the UK Biobank

2021 ◽  
Author(s):  
Jessica Gong ◽  
Katie Harris ◽  
Sanne A E Peters ◽  
Mark Woodward
Keyword(s):  
Smoking Status ◽  
Hormone Replacement ◽  
Reproductive Factors ◽  
Uk Biobank ◽  
Oral Contraceptive Pills ◽  
Number Of Children ◽  
Estrogen Exposure ◽  
Contraceptive Pills ◽  
Endogenous Estrogen ◽  
The Uk

Abstract Background: To examine the risk of incident all-cause dementia associated with reproductive factors in women, and the number of children in both sexes; and whether the effects vary by age, socioeconomic status (SES), smoking status and body mass index in the UK Biobank.Methods: A total of 273,265 women and 228,966 men without prevalent dementia from the UK Biobank were included in the analyses. Cox proportional hazard regressions estimated hazard ratios (HRs) for reproductive factors with incident all-cause dementia.Results: Over a median of 11.3 years follow-up, 1,680 dementia were recorded in women and 2,021 in men. Adjusted HRs (95% confidence intervals (CIs)) for dementia were 1.20 (1.08, 1.35) for menarche <12 years, and 1.24 (1.10, 1.39) for menarche ≥15 years compared to 13 years; 0.86 (0.74, 1.00) for ever been pregnant; 0.80 (0.69, 0.93) for each abortion; 1.29 (1.12, 1.49) for menopause at <47 compared to 50 years; 1.13 (1.01, 1.27) for hysterectomy; 0.80 (0.72, 0.90) for oral contraceptive pills use; and 1.56 (1.40, 1.73) for hormone replacement therapy (HRT) use. The U-shaped associations between the number of children and the risk of dementia were similar for both sexes. There was evidence for early (natural and artificial) menopause, and a greater number of children were associated with a higher risk of dementia among women of relatively lower SES only.Conclusions: Shorter cumulative endogenous estrogen exposure in women is associated with higher dementia risk, although female biological factors involved in childbearing are unlikely to account for risk variation.

scholarly journals Atraumatic Osteonecrosis After Estrogen Replacement Therapy Associated with Low Protein S Level in a Patient with Turner Syndrome

2009 ◽  
Vol 16 (5) ◽  
pp. 599-601 ◽  
Author(s):  
Kemal Üreten ◽  
M. Akif Ozturk ◽  
Ahmet Bostancı ◽  
Özcan Çeneli ◽  
Mustafa Özbek ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Estrogen Replacement Therapy ◽  
Hormone Replacement ◽  
Rare Condition ◽  
Protein S ◽  
Young Female ◽  
Low Protein ◽  
Increased Risk ◽  
Coagulation Defects ◽  
Clinical Conditions

Atraumatic osteonecrosis has been associated with a variety of clinical conditions including corticosteroid usage, alcoholism, infections, hyperbaric events, storage disorders, marrow-infiltrating diseases, coagulation defects, and some autoimmune diseases. Osteonecrosis due to thrombophilia is an extremely rare condition with only few cases reported previously in the literature. Hormone-replacement therapies cause increased risk of venous thrombosis, probably by causing a synergistic effect with inherited clotting defects. In this article, we report a young female with Turner syndrome, who developed avascular necrosis of the femoral head during treatment with oral estrogen, which was associated with low protein S levels.

Study the Relationship Between Estrogen Hormone and Calcium in Normal Females Before and After Menopause in Baghdad / Iraq

2018 ◽  
Vol 2 (1) ◽  
Author(s):  
Sameerah Mustafa ◽  
Asal Tawfeeq ◽  
Hadeel Hasan
Keyword(s):  
Oral Contraceptive ◽  
Healthy Controls ◽  
Serum Samples ◽  
Oral Contraceptive Pills ◽  
Contraceptive Pills ◽  
Menopausal Women ◽  
Before And After ◽  
Group A ◽  
Group B ◽  
Age Range

This study involved the collection of (90) samples of women serum which included (30) serum samples collected from women before menopause (reproductive women) in the age range of (22-43) years and were considered as (group A- control). While, (group B) included (30) serum samples collected from women using oral contraceptive pills between the ages of (22-43) years old. Whereas, another (30) serum samples were collected from women after menopause between the ages of (43-54) years and were considered as (group C). All of the collected serum samples were subjected to a number of serological and chemical tests for the measurement of (E2, HDL, LDL and Ca). Then, the obtained data were statistical analyzed and results showed a significant decrease (p˂ 0.05) in (E2 ,Ca and HDL) levels in menopausal women compared to that of the normal healthy controls. While, there were non-significant decrease (p> 0.05) in (E2, Ca and HDL) levels in women taking oral contraceptive when compared to the normal healthy controls. On the other hand, a significant increase (p˂ 0.05) was recorded in LDL level in menopausal women compared to that of the normal healthy controls whereas, no-significant increase (p˃ 0.05) in the LDL level in women taking oral contraceptives when compared to the control women.

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