Successful Pregnancy in Isolated 17,20-lyase Deficiency Without Glucocorticoid Use or Assisted Reproduction Techniques.

Isolated 17,20-lyase deficiency (ILD) is a partial form of 17α-hydroxylase/17,20-lyase deficiency that typically presents with infertility and lack of pubertal development. Successful live births have been achieved using assisted reproductive techniques. We present a case of spontaneous pregnancy in an 18-year-old female with ILD without reproduction treatments or glucocorticoid use. She presented to our clinic with absence of pubarche and oligomenorrhea and had typical external genitalia and complete breast development. Follicular phase progesterone and estradiol were within reference values, and androgen levels were undetectable. Corticosterone was increased, and cortisol responded partially to the ACTH-stimulation test. This profile raised a suspicion for ILD, which was confirmed by the finding of the homozygous p.R347H variant in the CYP17A1 gene. Sex steroid replacement and glucocorticoid use during stress were prescribed. She returned 2 years later 20 weeks pregnant. Her gestation was uneventful, and a full-term healthy male was born. This phenomenon could be partially explained by sufficient estrogen synthesis via residual 17,20-lyase enzymatic activity. Intermittent estradiol use may have favored uterine development and fine-tuned the pituitary-gonadal axis rhythm. Normal progesterone levels may have permitted an adequate endometrial "implantation window" without glucocorticoid use. Finally, elevated corticosterone may have compensated for the partial cortisol deficiency.

Synovial cyst of the thoracic spine: case report.

Spinal cord compressing syndrome due to synovial cyst (SC) of the thoracic spine is a rare clinic condition. We report a case of SC located in the thoracic spine causing spastic paraparesis in a 14 year-old female patient. The SC was removed thoroughly by laminectomy. The patient had an excellent recovery. The etiological and therapeutic aspects are discussed.

Synovial cyst of the thoracic spine: case report

Spinal cord compressing syndrome due to synovial cyst (SC) of the thoracic spine is a rare clinic condition. We report a case of SC located in the thoracic spine causing spastic paraparesis in a 14 year-old female patient. The SC was removed thoroughly by laminectomy. The patient had an excellent recovery. The etiological and therapeutic aspects are discussed.

Síndrome de compressão medular causada por cisto sinovial (CS) da coluna torácica é patologia rara e pouco descrita na literatura. Descrevemos um caso de CS da coluna torácica causando paraparesia espástica em uma paciente de 14 anos de idade. O cisto foi removido através de laminectomia e a paciente apresentou uma excelente recuperação. Discutimos os aspectos etiológicos e terapêuticos.