ESPE Abstracts (2019) 92 P2-251

3β-HSD2 Deficiency Due to Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and a Frameshift Deletion (p.Lys273ArgFs*7) in an Under-Virilized Infant Male with Salt Wasting

Sofia Leka-Emiri1, Ludmia Taibi2, Aspasia Fotinou3, Elpis Vlachopapadopoulou1, Stefanos Michalacos1, Nicolas de Roux2


1Department of Endocrinology-Growth and Development, P&A KYRIAKOU Children's Hospital, Athens, Greece. 2Biochemistry-Hormonology laboratory, Robert-Debré Hospital, Paris Diderot University, Paris, France. 3Department of Biochemistry-Hormonology, P&A KYRIAKOU Children's Hospital, Athens, Greece


Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.

Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadias, bifid scrotum, penile chordee and undescended left testicle. From history he was under cortisone treatment that was discontinued 15 days prior to referral to our hospital. Laboratory evaluation revealed hyponatremia, Na: 130 mEq/L ( 135-145 mEq/L) with concurrent hyperkalemia, K: 5.5 mEq/L (3.5-4.5 mEq/L). He was admitted to the pediatric care unit and started on hydrocortisone, fludrocortisone, and sodium chloride supplementation. Steroid hormone testing obtained before treatment revealed a complex pattern suggestive of congenital adrenal hyperplasia (CAH) due to 3β-HSD deficiency. Hormonal determinations revealed the following abnormal values: DHEA-S: 13.35 (<0.600)µgr/ml,17-OH-Progesterone:35.07(0.200-0.800)ng/ml,Testosterone:0.946 (<0.025)ngr/ml, Cortisol: 1.15(6.2-23.00)µgr/dl. Chromosomal karyotype was 46,XY. Scrotal u/s revealed the right testicle in the scrotal area (1.82x1.34x0.92) cm (Vol: 1.12cm3) and the left testicle in the upper inguinal area (1.38x0.89x0.93)cm (Vol:0.58 cm3), both harboring microcalcifications. Molecular analysis performed by next generation sequencing revealed a missense mutation: c.776C>T, p.Thr259Met, transmitted by the mother and a frameshift deletion: c.818-819delAA, p.Lys273ArgFs*7 transmitted by the father. Both mutations are described as pathogenic. The patient recovered from his acute illness, was discharged home on steroids. In the near future he will have urologic surgery to correct his urogenital anomalies.

Conclusions: Deficiency of 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). More than 40 mutations have been found in theHSD3B2gene causing3βHSD2D. To the best of our knowledge, our patient is the first under-virilized male with severe salt wasting presenting compound heterozygosity of missense c.776C>T, p.Thr259Met and frameshift deletion: c.818-819delAA, p.Lys273ArgFs*7.

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