A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency

Maria Alessandra Saltarelli, Rossella Ferrante, Francesca Di Marcello, Daniela David, Silvia Valentinuzzi, Lucrezia Pilenzi, Luca Federici, Claudia Rossi, Liborio Stuppia and Stefano Tumini
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Maria Alessandra Saltarelli: Department of Maternal and Child Health, UOSD Regional Center of Pediatric Diabetology, Chieti Hospital, 66100 Chieti, Italy
Rossella Ferrante: Department of Psychological, Health and Territory Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
Francesca Di Marcello: Department of Maternal and Child Health, UOSD Regional Center of Pediatric Diabetology, Chieti Hospital, 66100 Chieti, Italy
Daniela David: Department of Maternal and Child Health, UOSD Regional Center of Pediatric Diabetology, Chieti Hospital, 66100 Chieti, Italy
Silvia Valentinuzzi: Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
Lucrezia Pilenzi: Department of Psychological, Health and Territory Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
Luca Federici: Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
Claudia Rossi: Department of Psychological, Health and Territory Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
Liborio Stuppia: Department of Psychological, Health and Territory Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
Stefano Tumini: Department of Maternal and Child Health, UOSD Regional Center of Pediatric Diabetology, Chieti Hospital, 66100 Chieti, Italy

IJERPH, 2022, vol. 19, issue 11, 1-9

Abstract: Disorders of sexual development (DSDs) are characterized by a heterogeneous group of congenital conditions associated with atypical development of the sex chromosomes, gonadal or anatomical sex. We report the case of a child with an isolated micropenis, a typical feature of the 46,XY DSD showing low basal testosterone levels and post-stimulation with the hCG test. Molecular analysis using a next-generation sequencing (NGS) panel of 50 genes involved in DSDs was performed, revealing a heterozygous mutation, c.1040G > ANM_000102.4, in the CYP17A1 gene. Sanger sequencing was used to confirm the gene variant detected by NGS; it was also performed to his parents, revealing the presence of the same mutation in the mother, who presented no features of the disease. Then, the serum steroid profile was determined by liquid chromatography coupled to tandem mass spectrometry analysis. Interestingly, this analysis highlighted low levels of testosterone, progesterone, and dehydroepiandrostenedione, as also confirmed by a stimulus test with ACTH. These results suggest that, in some cases, heterozygous mutations in recessive genes involved in adrenal steroidogenesis can also affect the patient’s phenotype.

Keywords: 17,20-lyase deficiency; micropenis; CYP17A1 gene; heterozygous mutation; next-generation sequencing; mass spectrometry; steroid profiling (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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