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Gonadal Dysgenesis Diagnosed in Infancy

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Gonadal Dysgenesis Diagnosed in Infancy CLINICAL CONFERENCE GONADAL DYSGENESIS DIAGNOSED IN INFANCY Herbert I. Lerner, M.D. Sarah Morris Hospital for Children, Chicago O NE CAN hardly pick up a medical journal Although these patients usually develop in- these days without finding one or creased urinary gonadotropins at puberty, more articles concerned with chromosomal an investigator has reported’ tllree patients abnormalities. The case presented here is with gonadal dysgenesis who excreted in- that of a patient with gonadal dysgenesis creased amounts of gonadotropins in urine (Bonnivie-Ullrich-Turner syndrome), which before puberty, the youngest being 2 years represents one interesting type of abnor- 8 months old. mality of the chromosomes. Between 2 and 4 months of age the pa- tient developed an infection of the urinary CASE REPORT tract that indicated tile possibility of a The patient was a 11%-month-old white renal anomaly. Intravenous and retrograde female infant, whose mother was gravida urograms revealed normal findings, except III, para III. The pregnancy was entirely for a bifid renal pelvis. A chromosomal normal, with no virus infections or irradia- count revealed five cells, with a diploid tion during the first trimester. The patient number of 45. Buccal smears from the par- had edema of the dorsa of the hands and ents were normal. feet at birth. When she was first seen at COMMENT 23 months the edema of the hands had subsided and the skin was very lax. The Turner’ described a syndrome of sexual dorsa of the feet still exhibited pitting infantilism, cuhitus valgus and webbed edema. In addition, she had a short neck, neck in post-pubertal females. They ila(l low set ears, cutis laxa in the neck region, amenorrhea, no breast development, short a shield-like chest with widely separated, stature and markedly elevated values for hypoplastic nipples, a high arched palate, gonadotropins in urine. Diagnostic pneu- telangiectasia of the cheek and forehead, mopenitoneum or iaparotomy in patients and hypoplasia of fingernails and toenails. with this syndrome usually reveals an in- The blood pressure was normal and femoral fantile uterus and tubes, and no ovaries. pulses were palpable. The external genitalia Various studies demonstrated that fibrous were normal. She was in the third per- strands along the tubes contained ovarian centile for height and weight on the Stuart stroma but no germinal epithelum or foili- growth curve, in contrast to her two older des. Congenital lymphangiectatic edema of siblings, wllo had always been in the nine- the hands and feet, with cutis laxa and tieth percentile. numerous other anomalies (Bonnevie- Buccal smears revealed a negative sex- Ulinich syndrome) was considered a sepa- chromatin pattern. A diagnostic pneumo- rate clinical entity until a few years ago. penitoneum at 53 months of age revealed when it was found that about 80% of pa- an indication of a small uterus with no tients in both groups had a negative sex- demonstrable ovaries. There were no de- chromatin pattern.’ At that time the two tectable levels of urinary gonadotropins at syndromes were combined as Bonnevie- 4%, 5 and 6 months of age, but at 10 months Ulirich-Tunner syndrome or gonadal dys- between 0 and 5 mouse units were reported. 45 (See Table I for associated Presented as part of a Clinical Conference for the Annual Meeting of the American Academy of Pediatrics, October, 1960, under Chairmanship of Dr. Jack Metcoff. ADDRESS: 29th Street and Ellis Avenue, Chicago 16, Illinois. PiuIAm!cs, September 1961 508 Downloaded from www.aappublications.org/news by guest on September 26, 2021 TABLE I SOME RECENT I)EVELOI’MENTS INVOLVING ANOMALIES OF THE SEX CHROMOSOMEs Cliromajin Sex .lithjsomes Dipkii! (‘linical S1a1e References Pastern (‘/zromosome. ( no.) Numbri Normal female Pos (40%, eells xx 44 46 Tjio: Hereditas, 42: 1, 1956 Normal iiiale Neg (>9()%, cells) XV 44 46 Tjio & Puck: Proc. Nat. Acad. Sd., 44: 19, 195$. (.oiiadal l)ysgeia’sis (Bo,i- Neg (80% Pt) XO 44 . 45 Ford: Laiieet, 1: 711, 1959. rievie-Ullrieh-’f,irner svn- Pos ( 1 pt ( ) 44 45 Grut,ihach : Amer. .1 . l)is. lrome)’ Child., 100: 548, 1960. Kliiiefelters’s svndronet Pos XXV 44 4 Jacobs & Strong: Nature, 189:30, 1959. With nioiigolism Pos xx s 48 Ford: L.ancet, I : 709, 1959. In identical twins Pos xx 44 47 Holub: J. Clin. Endoer., 18: 1359, 1958. Primary auientia and Pos (40% double xxxi 44 48 Ferguson-Smith: lauwet, tnicro-oreliidisiu chromatin) 2 : 184, 1959. 1)ouble inle (father Pos XYY 44 48 Mluldalil & Ockey: Laii- XYY) cet, 2: 49, 1960. ‘Friploidyt Pos xx,. 66 69 B#{246}bk:Laneet, 1 : 858, 1960. Superfemale or metafe- Pos in 71% cells: xxx 44 47 Jacobs et a!. : Laneet, 2: mal* double chromatin 4,s, 1959. in 15% cells Frazer et a!. : Lanet, 2 66, 1960. Testicular feminizatiori,1 Neg XV 44 46 Jacobs: Lanect, 2: 591, OI hereditary male 1959. pseudo-hermaphrodism’ Sexual mosaics ; Kline- Pus xx\’/xx 44 46-47 Ford: Nature, 183: 1030, fetter’s syndrome 1959. (;onadal dysgenesis Pos xx/xo 44 45-46 Ford: Amer. J. Human Genet., 12: 104, 1960. (;onadal dysgenesis Pos xxx,xo 44 45-47 Jacobs: Laneet, 1 : 113, 1960. ‘l’rue hermaphrodism Neg xy,ixo 44 45-46 Hirshhorn: Lancet, 2: 319, 1960. * Short stature, shield-like diest, overweight, cuhitus valgus, abnormal facies, webbed neck, abnormal :iails, Iymphedema, cutis laxa, mental retardation, aortic coarctation, renal anomalies, telagiectasia and sexual infantilism t Eunuchoid, small testes, mental deficiency. I-year-old boy with lipomatosis, micrognathia, syndactyly of hands and feet, ataxia, retardation and porencephaly. § May have sexual infantilism and mental deficiency, ovaries postmenopausal. One mentally defective woman had a normal boy. I Testicular feminization is included for comparison with gonadal dysgenesis. #{182}Female habitus, ectopic testes, inguinal hernia, primary amenorrhea, color blindness and mental deficiency. Downloaded from www.aappublications.org/news by guest on September 26, 2021 510 GONADAL DYSGENESIS congenital anomalies.’) It was thought that 2. Turner, H. H. : A syndrome of infantilism, these patients were male pseudohermaph- congenital webbed neck and cubitus valgus. Endocrinology, 23:566, 1938. nodites. Recently, chromosomal counts 3. Grumbach, M. M., Van Wyck, J. J., and Wil- revealed an XO pattern of the sex chromo- kins, L. : Chromosomal sex in gonadal dys- somes,8 and this is now interpreted to mean genesis (ovarian agenesis) : relationship to that the patients are incomplete females, male pseudohermaphrodism and theories of lacking the second X chromosome.9 Recent human sex differentiation. J. Cliii. , 15:1161, 1955. studies indicate that the sex chromatin 4. Oberman, J. \V. : Prepuberal diagnosis of body found in female cell-nuclei is proba- ovarian agenesis and its relationship to bly due to a single X that is heterochro- Status Bonnevie-Ullrich. J. Pediat., 47:48, matic, i.e., stains differently from the other 1955. x chromosome and the autosomes.1#{176} Pen- 5. Rossi, E. , and Caflisch, A. : Le syndrome du pterygimm: status Bonnevie-Ullrich dystro- haps it is this X that is missing in these phia brevicolli congenita, syndrome de patients, accounting for a negative chroma- Turner et arthromyodysplasia congenita. tin pattern. However a 12-year-old patient Helv. Paediat. Acta., 6:119, 1951. with gonadal dsgenesis, chnomatin-positive 6. Haddad, H. M., and Wilkins, L. : Congenital nuclei and an XO chromosome constitution anomalies associated with gonadal aplasia: review of 55 cases. PEDIATRICS, 23:885, has been reported.’#{176} In addition, a female 1959. Witil XO sex chromosome constitution, no 7. Nelson, W. : Textbook of Pediatrics, Ed. 7. stigmata of Turner’s syndrome except short Philadelphia, Saunders, 1959, p. 1199. stature and late menanche, and who gave 8. Ford, C. E., et a!. : A sex-chromosome anomaly birth to a normal male child has been de- in a case of gonadal dysgenesis (Turner’s d” syndrome). Lancet, 1:711, 1959. 9. Tjio, J. H., Puck, T. T., and Robinson, A.: A summary of these variants and other The somatic chromosomal constitution of abnormalities of the sex chromosomes is some human subjects with genetic defects. presented in Table I in an attempt to sum- Proc. Nat. Acad. Sci. U.S.A., 45:1008, 1959. marize some of the interesting new develop- 10. Grumbach, M. M., Morishima, A., and Chu, E. H. Y. : On sex chromatin and the sex ments in the understanding of sexual chromosomes in sexual anomalies in man: anomalies. Relation to origin of sex chromatin. Amer. 1. Dis. Child., 100:548, 1960. REFERENCES 1 1. Bahner, et a!.: A fertile female with XO sex 1. Grossman, E. R. : Pituitary gonadotropins in gon- chromosome constitution. Lancet, 2:100, adal dysgenesis. PEDIA’rmcs, 25:298, 1960. 1960. Downloaded from www.aappublications.org/news by guest on September 26, 2021 CLINICAL CONFERENCE: GONADAL DYSGENESIS DIAGNOSED IN INFANCY Herbert I. Lerner Pediatrics 1961;28;508 Updated Information & including high resolution figures, can be found at: Services http://pediatrics.aappublications.org/content/28/3/508 Permissions & Licensing Information about reproducing this article in parts (figures, tables) or in its entirety can be found online at: http://www.aappublications.org/site/misc/Permissions.xhtml Reprints Information about ordering reprints can be found online: http://www.aappublications.org/site/misc/reprints.xhtml Downloaded from www.aappublications.org/news by guest on September 26, 2021 CLINICAL CONFERENCE: GONADAL DYSGENESIS DIAGNOSED IN INFANCY Herbert I. Lerner Pediatrics 1961;28;508 The online version of this article, along with updated information and services, is located on the World Wide Web at: http://pediatrics.aappublications.org/content/28/3/508 Pediatrics is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. Pediatrics is owned, published, and trademarked by the American Academy of Pediatrics, 345 Park Avenue, Itasca, Illinois, 60143.
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