OB-GYN-L Messages for September, 2003: Re: unilateral puberty

Re: unilateral puberty

From:

Terrence.Jones@kp.org

Wed Sep 10 16:36:36 2003

Think genetics consult would be helpful. Sounds like a somatic mutation in early embryonic organization (homeobox) left a lateralized defect in mammary and sebaceous morphogenesis pathway. Could be related to Hedgehog (in this case Sonic "shh") or its receptor Patched (Ptc). Would guess the w/u might incl hormonal confirmation of eugonadism, along with skin biopsy to confirm undifferentiated gland primordia. For further info see Gallego (9/02), Dev Biol 249: 131-9. For signal pathways see Niemann (8/03) Proc Natl Acad Sci USA [beta-catenin], and Radisky (8/03) Trends Cell Biol 13:426-34 [epimorphin].Would anticipate muellerian and gonadal organization to be nml; had She a sono? tj

DStassenPAC@cox.net (Denise) Sent by: ob-gyn-l@obgyn.net 09/09/2003 09:47 PM Please respond to ob-gyn-l

To: Multiple recipients of list OB-GYN-L <ob-gyn-l@dns.obgyn.net> cc: Subject: unilateral puberty

Help: I have recently seen a patient who is 15 years old and has unilateral primary and seconary sexual characteristics. Her right side from the umbilicus is completeley developed with a normal post-pubescent breast and pubic hair as well as enlargement of the labia. The left side has no pubic hair, a small breast bud and no labial enlargement. As you can imagine, this girl is quite distraught. She does menstruate, and has painful cramps. I have done quite a bit of research and asked quite a few colleagues with no leads as of yet. I did send her to an endocrinologist but have since lost contact with the patient and am quite curious as to the cause of this problem. Thanks to anyone who can help, Denise, PA-C Internal Medicine Gilbert, Arizona

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Think genetics consult would be helpful. Sounds like a somatic mutation in early embryonic organization (homeobox) left a lateralized defect in mammary and sebaceous morphogenesis pathway. Could be related to Hedgehog (in this case Sonic "shh") or its receptor Patched (Ptc). Would guess the w/u might incl hormonal confirmation of eugonadism, along with skin biopsy to confirm undifferentiated gland primordia. For further info see Gallego (9/02), Dev Biol 249: 131-9. For signal pathways see Niemann (8/03) Proc Natl Acad Sci USA [beta-catenin], and Radisky (8/03) Trends Cell Biol 13:426-34 [epimorphin].Would anticipate muellerian and gonadal organization to be nml; had She a sono? tj <table width0%> <tr valign=top> <td> <td>DStassenPAC@cox.net (Denise) Sent by: ob-gyn-l@obgyn.net 09/09/2003 09:47 PM Please respond to ob-gyn-l <td>                To:        Multiple recipients of list OB-GYN-L <ob-gyn-l@dns.obgyn.net>         cc:                 Subject:        unilateral puberty</table> Help: I have recently seen a patient who is 15 years old and has unilateral primary and seconary sexual characteristics.  Her right side from the umbilicus is completeley developed with a normal post-pubescent breast and pubic hair as well as enlargement of the labia.  The left side has no pubic hair, a small breast bud and no labial enlargement.  As you can imagine, this girl is quite distraught.  She does menstruate, and has painful cramps. I have done quite a bit of research and asked quite a few colleagues with no leads as of yet.  I did send her to an endocrinologist but have since lost contact with the patient and am quite curious as to the cause of this problem. Thanks to anyone who can help, Denise, PA-C Internal Medicine Gilbert, Arizona

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