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ea0020p319 | Clinical case reports and clinical reports | ECE2009

Dwarfism and female extenal genitalia due to congenital partial hypopituitarism in a 46XY Seckel syndrome with microcephaly and multiple skeletal deformities

Kebapci Nur , Efe Belgin , Yakut Ayten , Adapinar Baki , Basmak Hikmet

Seckel syndrome (SS) is a rare disorder of severe growth retardation and craniofacial-skeletal abnormalities. In scant number of reports, neonates had intact hypothalamic–pituitary–adrenal axis before they die because of cardiopulmonary abnormalities. We present an unique case of SS at the age of 18 years and discuss the possible explanations of his growth retardation and sex reversal.Case: A 18-year-old female presented with short stature and ...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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