The authors describe a case of a 35-year-old man with 5-year duration infertility. History, clinical examination, and laboratory tests have established the diagnosis of late-onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency. Treatment with dexamethasone resulted in improvement of sperm quality, and 4 months later a pregnancy was achieved. Two years after the patient fathered his first child, and while he had discontinued dexamethasone treatment, he succeeded at a second pregnancy. The authors conclude that (1) late-onset congenital adrenal hyperplasia presents with significant variation during the patient's lifetime; (2) glucocorticoid administration is necessary in infertile men with nonclassic form of 21-hydroxylase deficiency; and (3) in cases of male infertility of unknown origin, the patient must be scrutinized for congenital adrenal hyperplasia, especially the nonclassic form.
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http://dx.doi.org/10.1080/014850102753385198 | DOI Listing |
Medicina (Kaunas)
December 2024
Medical College, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria.
Situs anomalies, including situs inversus and situs ambiguous (SAMB), are rare congenital conditions typically noted in pediatric populations, with SAMB being particularly uncommon in adults. This case study addresses the incidental discovery of situs ambiguous with polysplenia in a 65-year-old man evaluated for suspected adrenal adenoma. The patient's medical history included benign prostatic hyperplasia and tuberculous pleurisy.
View Article and Find Full Text PDFIntroduction: Screening for congenital adrenal hyperplasia through the measurement of 17-hydroxyprogesterone on the neonatal blood spot aims to: a) prevent neonatal deaths; b) allow earlier identification and thereby decrease the severity of the initial salt-wasting episode; and c) shorten the time during which a severely virilized genetic female newborn may be assigned the male sex. It is now practiced in the majority of high-income countries, although the positive predictive value of the test is very low in infants born preterm, who seem to be infrequently affected. In almost all low- and middle-income countries, it has not yet been implemented.
View Article and Find Full Text PDFJ Perinat Med
January 2025
Department of Obstetrics and Gynecology, University Hospital of Münster, Münster, Germany.
Objectives: The aim of this study was to compare the adrenal gland size of fetuses with congenital heart diseases (CHD) and normal fetuses.
Methods: In this cross-sectional prospective study we measured the fetal adrenal gland size (total width, cortex width, medulla width, adrenal gland ratio of total width divided by medulla width) in 62 fetuses with CHD and 62 gestational-age-matched controls between 20 + 0 and 39 + 3 weeks of gestation. First, we clustered three CHD subgroups: CHD group_1 with a normal outflow tract (n=7), CHD group_2 with an altered outflow tract and anterograde flow in the ascending aorta (n=39) and CHD group_3 with an altered outflow tract and retrograde flow in the ascending aorta (n=16).
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
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