, Volume 17, Issue 3, pp 419–421 | Cite as

Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive

  • Dimitrios T. PapadimitriouEmail author
  • Christina Bothou
  • Diagoras Zarganis
  • Maria Karantza
  • Anastasios Papadimitriou
Case Report


The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene—SCC). SCC deficiency has been characterised as an autosomal recessive disorder, although it may also be inherited as an autosomal dominant trait in humans. Here, we describe a family of three members carrying the same novel heterozygous CYP11A1 mutation, a c.235G > A missense variant in exon 1: pVal79Ile. A 46 XY boy (P1) was presented at the age of 3 months with early onset adrenal insufficiency and life-threatening failure to thrive, with low adrenal androgens but normal external genitalia. Five years later, the parents had twin girls, one of whom (P2) presented acute adrenal crisis a few hours after birth. The father (P3), born at term, was reported as having suffered from failure to thrive during the neonatal period, though not his only male sibling. This report of severe early adrenal insufficiency caused by a heterozygous mutation of the CYP11A1 gene clearly demonstrates that SCC deficiency may be inherited as an autosomal dominant trait in humans.


SCC CYP11A1 Neonatal adrenal crisis Failure to thrive 



We thank Gendia Laboratories (Antwerp, Belgium) and specifically geneticists Kristel De Boulle and Patrick Willems for the genetic analysis.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Hellenic Endocrine Society 2018

Authors and Affiliations

  • Dimitrios T. Papadimitriou
    • 1
    • 2
    Email author
  • Christina Bothou
    • 1
  • Diagoras Zarganis
    • 3
  • Maria Karantza
    • 4
  • Anastasios Papadimitriou
    • 2
  1. 1.Department of Pediatric-Adolescent Endocrinology & DiabetesAthens Medical CenterMarousiGreece
  2. 2.Division of Pediatric Endocrinology, Third Department of PediatricsAttikon University HospitalHaidariGreece
  3. 3.Department of PediatricsAthens Medical CenterAthensGreece
  4. 4.Department of Pediatric EndocrinologyMitera Children’s HospitalAthensGreece

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