Maby, S L, Vallet, H L, Degnan, M, Urizar, R, Risemberg, H M, Cower, M L, and Porter, I H
Controversy exists regarding differentiation of the MGS and UFS. Because of variation in features in MGS, and question of the existence of UFS, a better definition of the hormonal pathophysiology should permit precise delineation. We have studied a neonate with the following anatomic defects: occipital protuberance (increased transillumination), coronal synostosis, low set ears, Brushfield spots, bulbous nose, micrognathia, bilateral hydronephrosis, a 2.5 cm hooded phallus, 1° hypospadias and absent scrotum; a posteriorly displaced anus, loose skin, joint contrictures, simian creases, bilateral talipes equinovarus, bilateral duplication of the first toes and absent toenails on digits 3-5/6 on the left. Many of these features are shared by MGS and UFS. Chromosomal analysis was normal. 46, XY.Endocrinological investigations included thyroid studies: absent epiphyseal centers. T41.6. FT40.5 ng/dl, TSH < 160 μμ/ml, antithyroid antibodies-neg; pituitary-adrenal axis: urinary steroids (mg/da) 17KS < 0.44.17OH < 0.5. P'triol < 0.2. ACTH-pending; pituituary-gonadal axis: FSH 10.4 mlu/ml, LH 32.6 mlu/ml, testosterone 17 ng/dl;hGH > 50 ng/ml: no abnormalities of Ca/P or glucose homeostasis. These studies demonstrate primary thyroidal, gonadal, and probably adrenal failure. Previous anatomic descriptions of the endocrine abnormalities in these syndromes have implied functional relationships with an inability to define 1° vs 2° hormonal dysfunction.The morphological abnormalities described here are consistent with UFS and lend support to it being a distinct nosologic entity. As a result of this study end-organ failure should now be included as a diagnostic feature of the UFS. The infant expired before other hormonal studies were completed. Necropsy findings will be discussed.