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o f P e d i a t r i c s , A t l a n t a and Tel-Aviv U n i v e r s i t y , I n s t i t u t e of P e d i a t r i c Endocrinology, I s r a e l .We have analyzed DNA r e s t r i c t i o n fragment l e n g t h polymorphism t o determine whether t h e mutation r e s p o n s i b l e f o r Laron Type hrarfism (LTD) is l i n k e d t o t h e human growth hormone (hGH) gene. An hGH haplotype r e p r e s e n t s t h e combination of presence o r absence of v a r i a b l e r e s t r i c t i o n s i t e s f o r B& 11, Hinc I1 and &Q I a t 5 l o c a t i o n s i n a s i n g l e 55 kb hGH gene c l u s t e r . We s t u d i e d 3 I s r a e l i f a m i l i e s with LTD. D i f f e r e n t haplotypes a r e i n d i c a t e d by c a p i t a l l e t t e r s A-D: The a f f e c t e d s i b l i n g s i n Family I have i n h e r i t e d d i f f e r e n t hGH genes from t h e i r normal f a t h e r . LTD p a t i e n t s i n 3 f a m i l i e s show a t o t a l of 4 d i f f e r e n t hGH haplotypes. Discordance f o r haplotype between a f f e c t e d s i b l i n g s and l a c k of a s s o c i a t i o n of LTD with a p a r t i c u l a r hGH haplotype i n d i c a t e t h a t LTD i s n o t l i n k e d t o t h e hGH gene. T h i s r e s u l t excludes mutation of hGH t o a n a n t a g o n i s t molecule a s a n e x p l a n a t i o n f o r hGH r e s i s t a n c e and abnormal r e c e p t o r f u n c t i o n i n LTD. I f a n hGH r e c e p t o r gene i s mutated i n LTD, then t h i s gene i s n o t l o c a t e d i n proximity t o t h e hGH gene. EamilrL ULTRASOUND EVALUATION OF NEWBORN THYROID STRUCTURE:463 VISUALIZATION WITHOUT RADIATION. Matthew P a s t o , Gar G. Carpenter. Thomas J e f f e r s o n U n i v e r s i t y , D e p a r f ? ments o f ~i a g n o s t i c Ultrasound and Radiologic Imaging and Pedia t r i c s , P h i l a d e l p h i a , Pa.I n f a n t s with s With t h e a p p l i c a t i o n o f ultrasound r e a l time (10 MHz high r es o l u t i o n r e a l time, prototype ATL, B e l l e v e r e , WA) 8 e v a l u a t i o n s have revealed information a i d i n g d i a g n o s i s and counseling potent i a l f o r p a r e n t s . I n f a n t s with prematurity and low T4 s t u d i e s compatible with t h e d i a g n o s i s o f " s i c k e u t h r o i d " when seen t o have a normal gland may be observed with l e s s a n x i e t y than those found t o have no s t r u c t u r e resembling t h y r o i d . Gland s i z e of i n f a n t s whose mothers r e q u i r e d a n t i t h y r o i d medication d u r i n g pregnancy can be s e r i a l l y followed. Term newborns with s c r e e n i n g values i n t h e f i r s t weeks of l i f e t h a t i n d i c a t e p o s s i b l e a t h y r eo s i s can have r a p i d confirmation when t h e gland i s found a b s e n t ; t h o s e with d y s g e n t i c t h y r o i d s t r u c t u r e may be followed with o r w i t h o u t t r e a t m e n t depending on o t h e r individual balances of t h y r o i d s t u d i e s . Parents have i n d i c a t e d a p p r e c i a t i o n of t h i s newer v i s u a l i...
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