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Refetoff-RTH-JCEM67.Pdf Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone12 SAMUEL REFETOFF,3 LOREN T. DEWIND,4 AND LESLIE J. DEGROOT5 The Hospital of the Good Samaritan Medical Center, Los Angeles, California, and the Clinical Research Center, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139 ABSTRACT. The occurrence of a bizarre famil- 70% as T4. The T4 was identified on paper ial syndrome combining deaf-mutism, stippled chromatography in 3 solvent systems. The free epiphyses, goiter and abnormally high PBI in 2 thyroxine level was 4.9 m/ig/100 ml. An infant of 6 children of a consanguineous marriage is de- of 8 weeks had a mean PBI of 19.3 Mg/100 ml, scribed. Mean PBI levels were 14 and 21 jug/100 TBG of 15.8 /ig/100 ml, and presumably also has ml; BEI 9 and 15 /ag/100 ml; T4-by-column 11 the syndrome. Another sib had a mean PBI of and 14 /ag/100 ml; 24-hr 131I uptake 49 and 70%; 11 /ig/100 ml. Two sibs and the parents are nor- 24-hr PB13lI conversion ratios 40 and 41%; mal. A hypothesis is advanced suggesting the thyro-binding index 0.81 and 0.93; TBG 17 and possibility of inhibition of thyroid hormone 20 /ug/100 ml; antithyroglobulin titer less than transport into tissue, or end-organ resistance to 1:16. Potassium perchlorate discharge test was the hormone in view of the eumetabolic state of normal. Iodine metabolism studied in one subject the subjects in the presence of high circulating revealed thyroid iodine clearance of 24 ml/min levels of blood thyroxine and normal thyroxine and renal clearance of 26 ml/min. Urinary iodide binding capacity. (J Clin Endocr 27: 279, 1967) excretion was 294 /*g/day, and PB131I was over OITER and hypothyroidism are often thyroid metabolism (1). Each of these G associated and are responsible for the heritable thyroid anomalies presumably is recognition of five known inborn errors of caused by the inheritance of a recessive genetic factor interfering with a specific Received August 1, 1966; accepted November 11, 1966. step in the thyroid hormone biosynthesis. 1 Supported in part by USPHS Grant AM 06400 Deaf-mutism is also commonly associ- and American Cancer Society Grant P-298 and in ated with hypothyroidism. In fact, percep- part by the Medical Research Fund of The Hos- pital of the Good Samaritan, Los Angeles, Calif. tive deafness is a constant finding in Pen- Presented in part at the Forty-eight Meeting of dred's syndrome. The presence of goiter in The Endocrine Society, Chicago, 111., June 1966. this syndrome is known to be caused by an 2 This is Contribution No. 964 from the Depart- ment of Nutrition and Food Science, Massachu- inborn failure of the thyroid to organify setts Institute of Technology, Cambridge, Mass. iodide (2). 3 Resident in Internal Medicine, Lahey Clinic High PBI values in the presence of nor- Foundation, Boston. Formerly Resident in Internal Medicine at The Hospital of the Good Samaritan mal thyroid function have been recognized Medical Center, Los Angeles. Present address: Peter in families with abnormalities in the thy- Bent Brigham Hospital, 721 Huntington Avenue, roxine binding globulin, a character trans- Boston, Mass. 02115. 4 Attending Physician, Internal Medicine, The mitted as a simple mendelian dominant Hospital of the Good Samaritan Medical Center, (3). Los Angeles. A single case of severe hypermetabolism 6 Associate Professor of Experimental Medicine, Massachusetts Institute of Technology; Assistant of nonthyroid origin has been also de- Physician, Massachusetts General Hospital. scribed and was attributed to a defect in 279 280 REFETOFF, DEWIND AND DEGROOT Volume 27 dent. Radiological skeletal survey disclosed stippling of the major secondary ossification centers, and the epiphyses appeared to have developed from multiple centers (Fig. 1). Epi- physial dysgenesis due to hypothyroidism was considered, even though clinically she did not appear cretinoid, and the thyroid gland was not found abnormal on palpation. She did not present symptoms or signs of hyper- or hypo- thyroidism. The PBI was recorded as 19.8 jiig/100 ml and the BEI on another occasion 12.8 jug/100 ml. The serum cholesterol, calcium, phosphorus and alkaline phosphatase were within normal limits. The VDRL (Venereal Disease Research Laboratory) was nonreactive. Further inquiry in the family history revealed that an older brother (m.G.) was also deaf from birth. A radiological survey of the brother re- vealed similar stippling of the major secondary ossification centers. The PBI and BEI were 14.6 and 9.2 /xg/100 ml, respectively. Contact with the family was lost until 2| yr later, when an effort was made to locate them for investiga- tive purposes. The subjects studied comprise the parents and 5 children. Preliminary studies on a new- born infant are included. Only members of one generation are affected; and there is no familial history of goiter, deafness, or other congenital abnormality in other generations on either the paternal or maternal sides. The affected genera- tion is a product of a consanguineous union in FIG. 1. Roentgenogram of the proximal end of the which the father is also a second cousin to his right femur of v.G. Mottled areas of increased den- children. Three other half-siblings, from a pre- sity are present throughout the ossification centers vious marriage of the mother, are normal (Fig. of the head of the femur. The appearance is that of 2). All the children of the affected generation an epiphysis formed from multiple minute centers were born in southern California, where goiter is which have coalesced to a degree. The gross outline of the epiphysis is normal. nonendemic. With the exception of the last child, who was prematurely born by cesarean section, they were products of full-term, uncom- the mitochondrial enzyme organization, plicated pregnancies and deliveries, and ap- peared at birth normal in every respect. Their resulting in a severely lowered capacity for birth weights varied from 8^ to 5 pounds (Table respiratory control (4). 1). Both parents are third generation Americans This communication presents observa- of Mexican extraction. The mother (J.G.) was tions on a sibship with heritable thyroid, born in Tempe and the father (G.G.) in Glen- osseous and auditory abnormalities and dale, Arizona. which is euthyroid in spite of abnormally Only 2 of the children (m.G. and v.G.) pre- sent the complete syndrome of deaf-mutism, elevated PBI levels. Evidence suggests that stippled epiphyses, goiter and abnormally high the underlying problem is that of peripheral PBI. Past history and physical examination of resistance to thyroid hormone action. the parents and 2 of the nonaffected siblings (e.G. and t.G.) are noncontributory so that Case Presentation detailed descriptions of these subjects will be omitted. During the time the study was done, Our attention was first attracted to the G. the mother was in her last trimester of the preg- family when v.G., a 6-yr-old girl deaf from nancy which later terminated in the induced birth, was brought to another hospital for the premature birth of ma.G. care of minor injuries sustained in a car acci- February 1967 FAMILIAL TISSUE RESISTANCE TO THYROXINE 281 TABLE L Growth and development ~ I ^ I BONE AGE I 1 2 (according to ossification a! centers) TEETH P PRIMARY SECONDARY 1 mG I2 /* 80 6'/4 8-9 12 14- 20 mute + llyrs 9yrs6mos eG lOfc 56 82'yfe 8'/2 6 6 10 14 18 0 llyrs llyr. tG 9fc 7 6 6 10 12 18 ,o 9yr. 9yf. A A vG 8'/2 ^i DD|DB ii0» 45K2 42 5 6 6 15 24 mute + 6yr. lOmos 3yr. 6mos IG 3K2 35 28/2 6'/2 4 6 9 12 18 o 22mo. 22mo. maG 8wk. 7J2 414 0 0 0 0 0 - normal newborn D- INCISOR, PERMANENT A - CANINE I- INCISOR, DECIDUOUS M" PRE-MOLAR tt&- MOLAR m.G. is a 12|-yr-old boy, 6j pounds at birth. stature somewhat smaller. Except for being His early development was somewhat delayed prone to many minor household accidents dur- (Table 1), and deafness was noted during early ing early childhood, her record of previous ill- infancy. Past medical history included measles, nesses is noncontributory. Although inferior to chickenpox, and tonsillectomy-adenoidectomy that of her brother (m.G.), her record from the at the age of 6. His school record from Hyde school for deaf children ranged well within the Park School for deaf children classified him well average in general performance, intelligence above the average in general performance, and learning abilities. intelligence and learning abilities. He was a She was a thin, small girl with normal body well-developed boy with normal body propor- proportions, normally erupted teeth (Table 1), tions and normally erupted teeth for his age deaf-mute but alert, very active, and compre- (Table 1). He was deaf-mute, able to enunciate hending communication by gestures. She could only a few words, but alert and able to compre- not enunciate words but emitted squeaking hend communication by gestures. He exhibited sounds. The resemblance of her facial features bird-like facies, pigeon breast and winged scap- to those of her brother was striking, for she ulae (Fig. 3). The thyroid gland was diffusely exhibited the bird-like facies, pigeon breast and enlarged on palpation, estimated to be about 4 winged scapulae (Fig. 4). Her thyroid gland was times the size of a normal gland. There was no also diffusely enlarged on palpation and esti- thrill or bruit. Otoscopic examination was mated to be approximately 3 times the expected within normal limits.
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