So we have a son. He is born with severe hypospadias with a chordee. This is actually fairly common for males. Not such a big deal.... especially after he is diagnosed with CAH. 

 We have always been told that he had the more common 21 hydroxylase type of CAH... the salt wasting part of it changes with the doctor. The current doctor says it is salt wasting. However, Brayden has never had the genetic blood testing done. He HAS been to NIH. None of the doctors he has seen has said anything about the hypospadias being related to the CAH. Something I read recently made me think otherwise. Why would a baby bathed in EXTRA male hormones have a hypospadias?? Doesn’t make sense. Til you read about 3 Beta Hydroxysteroid.....

the below text was taken from the only article I could find so far... it is by J Paul Frindik.

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• Males

 ( this first line describes Brayden )

• Most newborn males are incompletely masculinized and have varying degrees of hypospadias. Testes usually are palpable.

• Patients with milder defects may present as adolescents with ambiguous genitalia and poor virilization. However, virilization or spontaneous puberty has been reported in some males.

• Gynecomastia is a common finding in pubertal males.

Causes: 3B HSD deficiency is inherited as an autosomal recessive trait.

(are these the mutations?)

• 3B HSD is encoded by an 8 kb gene located on the p11–13 region of chromosome 1.

• Two isoenzymes of 3B HSD have been described, differing by only 23 amino acids. Type I 3B HSD isoenzyme occurs in the peripheral tissues, primarily the liver, and type II 3B HSD almost exclusively occurs in the gonads and adrenal glands.

• Type I 3B HSD isoenzyme is normal in 3B HSD deficiency, whereas at least 31 different mutations in the type II 3B HSD gene have been identified in 32 unrelated families with 3B HSD deficiency. Patients with classic, salt losing 3B HSD deficiency have been shown to have a variety of mutations, including splicing (1 patient), in-frame (1 patient), nonsense (3 patients), frameshift (4 patients) and missense (22 patients) mutations in the type II 3B HSD gene with no mutation in the type I gene. No functional 3B HSD type II enzyme is found in the adrenals or gonads of patients with severe salt losing disease. The non–salt-losing form results from missense mutations causing only partial deficiency in enzyme activity. Different missense mutations of the type II 3B HSD gene have been identified in female patients with late onset 3B HSD deficiency.

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  When I became pregnant again I had the CVS done. My husband and I also did the bloodwork for our mutations. My daughter is a carrier. According to the lab at Cornell, my husbands mutation is at Exon 8 (Q318X) and mine is at Exon 4 (I172N)

Does this confirm the 21 hydroxylase? Does it confirm anything? Does it mean anything compared to the above information?

 In what I have read so far it just is not possible to have a male with 21 hydroxylase and a hypospadias too. BUT..... it doesnt mean it cant happen or that is hasnt happened before. I am questioning everything now. It also seems that the TREATMENT for him is no different.... I think.

 Anyone else, anyone at all, have any thoughts on this? 

 

Susan