ESPE Abstracts (2019) 92 P3-9

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 1Case 2
Age/gender7 years 9 mo-female6,5 years-female
Birth weight (gram)-maturity3250 g-term3450 g-term
Sypmtoms and durationAxillary hair, adult type sweat-2 monthsPubic hair-1 month
Height -cm (SDS)128,3 (0,14)121,6 (0,53)
Genitourinary system ve secondary sex characteristicsT1P1 AK + no cliteromegalyT1p2 AK + no cliteromegaly
Bone age8 years 10 mo8 years 10 mo
DHEASO4 (0-45 µg/dl)121,9152,9
Total testosterone (0-40 ng/dl)2552
Basal 17 hydroksyprogesterone (0-1,5 ng/ml)0,0860,21
Stimulated 17 hydroksyprogesterone (0-1,5 ng/ml)0,30,96
Basal 11 deoxycortisol (0-344 ng/dl)22,640,1
Stimulated 11 deoxycortisol (0-344ng/dl)499806
Mutation (CYP11β1)Exon 1-R43Q Exon 7-A386V Compound heterozygoteExon 1-R43Q Exon 7-A386V Compound heterozygote
hypertensionNoNo
TreatmentHydrocortisone (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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