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Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats

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Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency.

Michael Croxson, C Megan Ogilvie, Stella Milsom

The New Zealand Medical Journal

|June 23, 2012

Summary

Partial 17-alpha hydroxylase deficiency caused primary amenorrhea and delayed puberty in an 18-year-old woman. Treatment with dexamethasone and hydrocortisone normalized hormone levels and blood pressure.

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Area of Science:

Endocrinology
Genetics

Background:

Primary amenorrhea and pubertal delay are significant clinical presentations requiring thorough etiological investigation.
Secondary hypogonadism and hypertension can be manifestations of underlying endocrine disorders.

Observation:

An 18-year-old woman presented with primary amenorrhea, pubertal delay, labile hypertension, and secondary hypogonadism.
Biochemical analysis revealed low renin and normal aldosterone levels, indicative of primary adrenal insufficiency.
Ovarian ultrasound demonstrated bilateral small ovaries with multiple cysts.

Findings:

The patient was diagnosed with partial 17-alpha hydroxylase enzyme deficiency.
Genetic analysis confirmed a homozygous mutation (c.160_162delTTC, p.Phe54del) in the CYP17A1 gene.
Serum anti-Mullerian hormone levels were within the normal range, but future ovulatory potential remained uncertain.

Implications:

This case highlights the importance of considering 17-alpha hydroxylase deficiency in adolescents with specific hormonal and pubertal abnormalities.
Genetic confirmation of CYP17A1 mutations is crucial for accurate diagnosis.
Hormone replacement therapy with dexamethasone and hydrocortisone effectively managed hormonal imbalances and hypertension in this patient.