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Objective: To characterize the inferior adrenal artery (IAA) pulsatility index (PI) in intrauterine growth-restricted (IUGR) fetuses without brain sparing.Methods: Twenty-three IUGR fetuses with a normal Doppler cerebroplacental ratio (CPR) and 23 normal controls were included in this prospective cross-sectional study. The PI of the IAA was recorded using routine transabdominal Doppler ultrasound. The differences in Doppler characteristics, perinatal outcomes, and steroidogenesis in the umbilical vein at birth (adrenocorticotropic hormone [ACTH] and cortisol [F] levels) were compared between the 2 groups. The correlations between IAA-PI and steroidogenesis were assessed in the IUGR group.Results: IAA-PI was significantly lower in IUGR fetuses than in normal controls (0.85 vs 1.18 at first scan, 0.78 vs 0.92 at last scan; both P < 0.001). The plasma F and ACTH levels in IUGR cases were significantly higher than those of the normal controls (18.2 vs 12.4 µg/dL and 280.5 vs 125.6 pg/mL for F and ACTH, respectively; both P < 0.001). There were negative correlations between IAA-PI and plasma F values and between IAA-PI and ACTH values in the IUGR group (r = -0.774 and -0.82 at first scan, r = -0.525 and -0.45 at last scan, respectively; P < 0.001).Conclusion: Increased adrenal gland blood flow with concomitant increases in ACTH and F levels were observed in IUGR fetuses. IAA-PI is useful to assess early blood redistribution and may be beneficial for evaluating the steroidogenic response in high-risk pregnancies. [ABSTRACT FROM AUTHOR]

Background: Myasthenia gravis (MG) is the most common disorder of neuromuscular transmission, and it is typified by fluctuating degrees and variable combinations of weakness in the ocular, bulbar, limb, and respiratory muscles. Under rare circumstances, MG can be accompanied by Addison's disease. Case presentation: Here, we reported the case of a 57-year-old Chinese woman with MG. She experienced progressive muscle weakness for 1 week. MG with acute exacerbation was initially suspected. However, further biochemistry tests found mild hyperkalemia (5.6 mEq/L) and a lower renal potassium excretion rate. Consequently, low aldosterone action was highly suspected. Further findings included a suppressed cortisol level, a higher adrenocorticotropic hormone concentration, and 21-hydroxylase antibody positivity, supporting a diagnosis of primary adrenal insufficiency due to autoimmune adrenalitis. Conclusion: We successfully demonstrated that adrenal insufficiency could be diagnosed, due to the presence of hyperkalemia. This case suggested a need for clinicians to consider the possible coincidence of adrenal insufficiency in a patient with MG and hyperkalemia. Early hormone supplementation should be begun. [ABSTRACT FROM AUTHOR]

Background: Congenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with fatty accumulation. Case presentation: We report a case of CLAH caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The patient had typical early-onset adrenal crisis at 2 months of age. She had normal-appearing female genitalia and a karyotype of 46, XY. The serum cortisol and adrenal steroids levels were always nearly undetectable, but the adrenocorticotropic hormone levels were extremely high. Genetic analysis revealed compound heterozygous mutations at c. 229C > T (p.Q77X) in exon 3 and c. 722C > T (p.Q258X) in exon 7 of the StAR gene. The former mutation was previously detected in only two other Chinese CLAH patients. Both mutations cause truncation of the StAR protein. The case reported here appears to be a classic example of CLAH with very small adrenal glands and is the second reported CLAH case with small adrenal glands thus far. In a 15-year follow-up, the patient's height was approximately average for females before age 4 and fell to − 1 SDS at 10 years of age. Her bone age was similar to her chronological age from age 4 to age 15 years. Conclusions: In conclusion, this is a classic case of CLAH with exceptionally small adrenal glands. Q77X mutation seems to be more common in Chinese CLAH patients. Additionally, this is the first report of the growth pattern associated with CLAH after a 15-year follow-up. [ABSTRACT FROM AUTHOR]