46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

Context. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway. Case Description. A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and...

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Published in:Case reports in endocrinology 2018-01, Vol.2018 (2018), p.1-6
Main Authors: Pontecorvi, Alfredo, Di Donato, Carlo, Concolino, Paola, Paragliola, Rosa Maria, Papi, Giampaolo, Corsello, Salvatore Maria
Format: Article
Language:English
Subjects:
Adrenal glands
Amenorrhea
Biochemistry
Case Report
Case reports
Congenital diseases
Cytochrome
Endocrinology
Enzymes
Females
Fractures
Gynecology
Hormones
Hyperplasia
Hypertension
Laboratories
Males
Metabolism
Molecular biology
Mutation
Patients
Pediatrics
Potassium
Thyroid gland
Tomography
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Summary:Context. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway. Case Description. A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of the CYP17A1 gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively. Conclusions. We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.
ISSN:2090-6501
2090-651X
DOI:10.1155/2018/2086861