Endocrine Abstracts

Introduction

3ßeta Hydroxysteroid Dehydrogenase (3ß HSD) deficiency is a very rare autosomal recessive disorder affecting the synthetic pathways of all active steroids in the adrenals and gonads.

Observation

The 4-year-old child M.A and his 8-year-old sister M.M, from a consanguineous marriage, with a family history of sexual ambiguity. The clinical examination found a sexual ambiguity in the boy: – micro penis; scrotal hypospadias with a single orifice; – scrotum bifid normally wrinkled and pigmented; – absence of palpable gonads in the bursae Concept of salt loss syndrome at the age of 1 month associated with hypomasculinization of the external genitalia. Hormonal exploration: high ACTH levels, low cortisol and testosterone, high SDHEA.

Genitography

Mullerian residue of 18 mm ending in the bulbar urethra.

Barr test

Barr corpuscles: 0%; test in favor of a genetically male sex. Karyotype: 46XY. – Patient put on 10 mg of hydrocortisone and 9 alpha fludrocortisone. – He is referred for childhood surgery for the treatment of hypospadias. For sister Manel: a salt loss syndrome which appeared at birth without sexual ambiguity, treated with hydrocortisone and at 5 years old, onset of precocious pseudo puberty with acceleration of bone age, pubertal stage S2P2, Genitography: female urethra, karyotype: 46 XX. High ACTH (1122 pg/ml), low cortisol (4.64 nmol/l), 17OHP (0.33 ng/ml), SDHEA (8.21 mg/dl); testo (0.26 nmol/l). Put on hydrocortisone 20 mg/day and 9 alpha fludrocortisone.

Discussion

(3ß HSD) deficiency is a very rare form of congenital adrenal hyperplasia encompassing the forms with loss of salt and without loss of salt with a broad clinical spectrum including glucocorticoid deficiency and under-virilization in men manifested by micropenis and severe perineo-scrotal hypospadias. The prevalence is unknown due to the great rarity of the disease. Boys have different levels of under-virilization at birth. In both sexes, the salt loss forms lead to symptoms of dehydration and hypotension in the first weeks of life which can be fatal.The disease is caused by mutations in the HSD3B2 gene located on chromosome1p13.1.

Conclusion

The deficit of 3B HSD has benefited from advances in biochemistry and molecular biology which have opened up new perspectives in the field of pathophysiology, genetic determinism, diagnosis and antenatal treatment.