An 18-year-old girl was evaluated for primary amenorrhea. She was diagnosed with hemoglobin E (HbE)/beta-thalassemia during childhood and needed blood transfusions every month to maintain adequate hemoglobin levels. She was started on thalidomide to reduce her transfusion requirements at 12 years of age and became transfusion independent after 6 months. She had normal stature and Tanner stage 4 sexual maturation, but she failed to attain menarche. Investigations revealed that she had elevated serum gonadotropin levels, indicating primary ovarian dysfunction. Her karyotype was 46,XX. Ultrasonographic examination demonstrated the absence of follicles in both ovaries. There was no evidence of abnormalities of the urogenital tract. Thalidomide was stopped, and she attained menarche spontaneously 3 months thereafter. Subsequently, her menstrual cycles were regular. Repeat ultrasound scans demonstrated the presence of ovarian follicles as well as an increase in ovarian volume. Mechanistic links between ovarian dysfunction and thalidomide remain to be found. One possibility is impaired blood flow and follicular development.
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http://dx.doi.org/10.1210/jcemcr/luad057 | DOI Listing |
Endocrinol Diabetes Metab Case Rep
October 2024
Summary: Paediatric pituitary adenomas are rare in children and adolescents and differ from adults in both clinical presentation and management. We present the case of a 14-year-old female with primary amenorrhoea secondary to a macroprolactinoma, showing a modest radiological and biochemical response to dopamine agonist (DA) therapy. Despite a 10-month duration of increasing DA therapy, initial symptoms of primary amenorrhoea and hyperprolactinaemia persisted, with new symptoms of weight gain, lethargy and low mood.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
University of Health Science, Dr Sami Ulus Child Health and Diseases Health Implementation and Research Center, Clinics of Pediatric Endocrinology, Ankara, Türkiye.
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11 beta-hydroxylase deficiency (11βOHD), 3 beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17 hydroxylase deficiency and lipoid CAH may also be encountered in clinical practice. 11βOHD is the most common type of CAH after 21OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21OHD, findings of mineralocorticoid deficiency are not observed.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Turkiye.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21OHD) caused by mutations in CYP21A2. Although 21OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.
View Article and Find Full Text PDFBMC Womens Health
December 2024
Department of Obstetrics and Gynecology, School of Medicine, Debre Markos University, Debre Markos, Amhara Region, Ethiopia.
Background: Hysteroscopy is considered the standard for evaluating the uterine cavity. Limited data exists regarding hysteroscopy in Ethiopia. Therefore, the objective of the study was to describe the diagnostic and operative hysteroscopic procedures at St.
View Article and Find Full Text PDFLancet Reg Health Eur
February 2025
Karolinska Institutet, Oncology/Pathology Department, Stockholm, Sweden.
Background: It is unclear whether some patients with high-risk breast cancer do not warrant adjuvant dose-dense chemotherapy due to small expected absolute benefit.
Methods: The phase 3 PANTHER trial (NCT00798070) compared adjuvant sequential epirubicin/cyclophosphamide (EC) and docetaxel (D) administered in either tailored dose-dense (tDD EC/D) or standard interval schedule (FEC/D) to patients with high-risk resected early breast cancer (n = 2003). We compared outcomes across key subgroups of interest, evaluated the performance of the online prognostication and treatment benefit estimation tool PREDICT and conducted a subpopulation treatment effect pattern plot (STEPP) analysis.
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