ESPE2019 Poster Category 3 Adrenals and HPA Axis (27 abstracts)
Late Onset 11 Beta Hydroxylase Deficiency: Two Cases
Elvan Bayramoğlu , Zehra Aycan , Şenay Savaş Erdeve & Semra Çetinkaya
Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Introduction: Differential diagnosis should include congenital adrenal hyperplasia (CAH) in premature adrenarche patients. Clinically, it is possible to diagnose late onset and simple virilisation CAH caused by 21 hydroxylase deficiency because the criteria are better defined and genetic tests are widely available. But especially late onset 11 Beta hydroxylase deficiency can be very difficult to diagnose because the diagbostic criteria are not well defined and genetic tests are not available for this rare type of CAH. Hereby we present two patients with premature adrenarche who were diagnosed with late onset 11βHE.
Cases: General information on cases, symptoms, physical examination, laboratory and genetic results are given in Table 1.
| Case 1 | Case 2 | |
| Age/gender | 7 years 9 mo-female | 6,5 years-female |
| Birth weight (gram)-maturity | 3250 g-term | 3450 g-term |
| Sypmtoms and duration | Axillary hair, adult type sweat-2 months | Pubic hair-1 month |
| Height -cm (SDS) | 128,3 (0,14) | 121,6 (0,53) |
| Genitourinary system ve secondary sex characteristics | T1P1 AK + no cliteromegaly | T1p2 AK + no cliteromegaly |
| Bone age | 8 years 10 mo | 8 years 10 mo |
| DHEASO4 (0-45 µg/dl) | 121,9 | 152,9 |
| Total testosterone (0-40 ng/dl) | 25 | 52 |
| Basal 17 hydroksyprogesterone (0-1,5 ng/ml) | 0,086 | 0,21 |
| Stimulated 17 hydroksyprogesterone (0-1,5 ng/ml) | 0,3 | 0,96 |
| Basal 11 deoxycortisol (0-344 ng/dl) | 22,6 | 40,1 |
| Stimulated 11 deoxycortisol (0-344ng/dl) | 499 | 806 |
| Mutation (CYP11β1) | Exon 1-R43Q Exon 7-A386V Compound heterozygote | Exon 1-R43Q Exon 7-A386V Compound heterozygote |
| hypertension | No | No |
| Treatment | Hydrocortisone (7,5 mg/m2/day) | Hydrocortisone (7,5 mg/m2/day) |
Discussion and result: Prevalance of late onset 11βHE among premature adrenarche patients is not known in our country. Ten to twenty times increases in stimulation tests should be carefully evaluated and diagnostic work up should include genetic confirmation when necessary. Diagnostic criteria will be reached by this way.
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