ESPE2023 Poster Category 2 Adrenals and HPA Axis (37 abstracts)
Neonatal CAH screening in patients with rare causes of inherited primary adrenal insufficiency
Ilknur Kurt 1 , Metin Eser 2 , Ahmet Kahveci 1 , Ahmet Ucar 3 , Derya Bulus 4 , Bahar Ozcabi 5 & Tulay Guran 1
1Marmara University School of Medicine, Pediatric Endocrinology Department, Istanbul, Turkey. 2Umraniye training and research hospital, Clinic of Medical Genetic, Istanbul, Turkey. 3Sariyer Hamidiye Etfal Training and Research Hospital, Pediatric Endocrinology Department, Istanbul, Turkey. 4Kecioren Training and Research Hospital, Pediatric Endocrinology Department, Ankara, Turkey. 5Acibadem Atasehir Hospital, Pediatric Endocrinology Department, Istanbul, Turkey
Background and objective: 21alpha-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) is the most common etiology of inherited primary adrenal insufficiency (PAI) in children. Neonatal CAH screening is important for early diagnosis of salt-wasting 21OHD and other virilizing CAH (11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase deficiencies) and for avoiding mortality, especially in salt-wasting CAH. Neonatal CAH screening has become nationwide since the beginning of 2022 in Turkey. Nevertheless, neonatal CAH screening is negative in newborns with symptomatic adrenal insufficiency due to rare non-CAH PAI and congenital central adrenal insufficiency. Here clinical data and neonatal CAH screening results of 5 newborn babies with non-CAH PAI are presented.
Patients and Results: Patients (n=5) were presented with hyperpigmentation (n=5), hypoglycemia (n=2), hyponatremia (n=2), hyperkalemia (n=1), respiratory distress syndrome (n=1) between 3rd hour to 2 months of life. All of them had negative neonatal CAH screening with low 17hydroxyprogesterone (0.05-0.85 ng/mL). After critical blood samples were taken, glucocorticoid therapy was started in all patients. Fludrocortisone was also added in two of the patients. In the molecular analysis, biallelic mutations were found in the MC2R (n=3; 2 homozygous, 1 compound heterozygous), MRAP1 (n=1) and StAR (n=1) genes (Table).
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | |
| 1st step 17OHP | 0,16 ng/ml | 0,85 ng/ml | 0,13 ng/ml | 0.05 ng/ml | 0.05 ng/ml |
| presenting time | Postnatal 1t h day | At 2.5 months of age | Postnatal 1th hour and On the 6th day | postnatal 3rd hour and at 2 months of age | postnatal 1th day and on the 6th day |
| symptom | Darkening of skin color | hyponatremia (118 meq/L), hyperkalemia/12 meq/L) Darkening of skin color | RDS and hyponatremia (122 meq/L) darkening of skin color | hypoglycemia and darkening of skin color | hypoglycemia and darkening of skin color |
| etiology | MRAP1 homoz. c.106+1del | STAR homoz. p.Leu157Pro | MC2R homoz. c.560del | MC2R comp.hetero. c560del/c.702del | MC2R homoz. c.560del |
Conclusion: A negative neonatal CAH screening cannot exclude the diagnosis of non-CAH PAI even in severely symptomatic newborns. All newborns with symptoms and signs of adrenal insufficiency should be investigated further and treated with glucocorticoids to avoid poor clinical outcomes.
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