Aromatase Deficiency in Two Siblings with 46, XX KaryotypeRraised as Different Genders: A Novel Mutation (p.R115X) in CYP19A1 Gene

In conclusion, 46, XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if no history of maternal virilisation during pregnancy is present. PMID: 30968679 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Related Links:

BACKGROUND: Maternal exposure to major stressors during pregnancy has been found to increase the risk of neurodevelopmental, cognitive and psychiatric disorders in the offspring. However, the association between prenatal exposure to earthquake and the risk...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Disaster Preparedness Source Type: news
Femoral fractures in pregnancy are a rare complication, with an incidence of approximately 1%. Case reports and small trials leave perioperative obstetric management and route of delivery largely unclear. Three cases of femoral fracture are presented that ...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
For many women who want to defer having children, embryo pooling is a very viable strategy . We can create embryos when they are young, and then transfer these when they are ready to start their family. This way, they don't need to worry about the impact their ticking biological clock will have on their fertility !This option allows us to collect many embryos , freeze them, and then transfer them back one at a time after thawing them.The question , however , is how many embryos is the right amount to pool? Is it okay if we have just two or three ? Or should we repeat the IVF cycle until we have at least four?Obviously the ...
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
What began as a diet to lose her post-pregnancy weight in 1994 spiralled into a life-threatening illness. Now, 25 years on, it has destroyed more than half of South Londoner Angela Whiteford's life.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
ConclusionOur results suggested HBV infection did not appear to be detrimental to the outcome of IVF/ICSI treatment.
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
CONCLUSION The available evidence, limited to low evidence level case reports and series, indicates cutaneous laser treatment during pregnancy is safe for both mother and fetus. Furthermore, laser physics and optics dictate there should theoretically be no risk of fetal laser exposure from commonly used cutaneous lasers.
Source: Dermatologic Surgery - Category: Dermatology Tags: Review Article Source Type: research
CONCLUSION Treatment with pneumatic injection is safe and effective in reducing atrophic acne facial scars; it results in quantitative improvement in scar volumes.
Source: Dermatologic Surgery - Category: Dermatology Tags: Original Article Source Type: research
In conclusion, prenatal and recent MeHg exposure had no consistent pattern of associations to support the hypothesis that they are adversely associated with heart rate variability in this study population that consumes large amounts of fish.
Source: Neurotoxicology and Teratology - Category: Toxicology Source Type: research
CONCLUSIONS: Benzodiazepine monotherapy is utilized in nearly 1 in 10 patients treated for depression. Adults aged 45 to 65 years, patients prescribed opioids, patients seen by primary care providers, and those with underlying anxiety, epilepsy, or pulmonary disorders are at highest risk. PMID: 31120203 [PubMed - in process]
Source: Journal of Clinical Psychiatry - Category: Psychiatry Tags: J Clin Psychiatry Source Type: research
CONCLUSION: We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency. Key words: aromatase deficiency, CYP19A1 gene, maternal virilization, ambiguous genitalia. PMID: 29553041 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
More News: Acne | Congenital Adrenal Hyperplasia | Endocrinology | Genetics | Pediatrics | Pregnancy | Study