Dyshormonogenetic goitre is a rare thyroid entity which occurs due to enzymatic deficiency in the physiological process of thyroxin synthesis resulting in goitre formation. This has to be differentiated from iodine deficiency goitres for their similarity in clinical presentation, hormonal profile and on scintigraphy studies. This differentiation is vital for the reason that Dyshormonogenetic goitre (DHGG) needs to be treated with thyroxin while Iodine deficiency disorder (IDD) requires simple dietary iodine supplementation. 

Maharajan, Chandrasekaran

Vedachalam, Sucharitha

English

Otolaryngology online journal

 
 
http://jorl.net/ 
 
 
 
 
 
 
Review Article 
 
Volume 3 Issue 3 2012                                                  ISSN 2250-0359 
    
 
 
Retrospective analysis of Dyshormongenetic Goitre 
 
* Chandrasekaran Maharajan   Sucharitha Vedachalam 
 
* Madras Medical College 
   
 
Abstract: 
    Dyshormonogenetic goitre is a rare thyroid entity which occurs due to enzymatic 
deficiency in the physiological process of thyroxin synthesis resulting in goitre formation. This has 
to  be  differentiated  from  iodine  deficiency  goitres  for  their  similarity  in  clinical  presentation, 
hormonal  profile  and  on  scintigraphy  studies.  This  differentiation  is  vital  for  the  reason  that 
Dyshormonogenetic  goitre  (DHGG)  needs  to  be  treated  with  thyroxin  while  Iodine  deficiency 
disorder (IDD) requires simple dietary iodine supplementation. 
 
Key Words 
    Dyshormonogenetic  goitre,  Hypothyroidism,  Perchlorate  discharge  test,  Pendred 
syndrome, Iodine deficiency disorder, Tc99 scan  
 
Materials and Methods 
    52  DHGG  patients  were  identified  and  diagnosed  out  of  2364  patients  treated 
between December 2001 to December 2011 in our department a referral centre for whole of South 
India for thyroid disorders. Details collected include age, sex, grade of goitre, nodularity, associated 
deafness, The  tests  done  include Thyroid  function  tests,  Perchlorate  discharge  test,  USG  neck, 
Scintigraphy study, Fine needle aspiration cytology & histopathological examination. In these 52 
patients, fifty patients were between 15 and20 years of age; 30 patients were males and 22 patients 
were females. Siblings  belonging to 3 different families showed features of DHGG. All the 52 
presented with grade III goitres.  All patients had hypothyroidism at the time of presentation. USG 
showed nodularity in all cases. 1 Patient presented with mental retardation. This was present in the 
families were siblings were affected. One patient had associated deafness, Pendred syndrome. None 
of them had malignancy.I-131 scan was done in 35 patients and Tc 99 scan was done in 17 patients. 
Scintigraphy study showed increased uptake. I131 scan also showed low liver counts. In order to 
differentiate DHGG from IDD perchlorate discharge test and 24 hour urinary iodine measurements 
were done. 24 hour urinary iodine was above 200 ug/day. These specific investigations revealed the 
defect to be at the organification level. None of these patients showed iodine deficiency status thus clearly showing the distinction from iodine deficiency goitre. 
    All 52 patients were subjected to Total thyroidectomy after one month preparation 
with thyroxin. Thyrotherapy not only corrects the hypothyroid status but also helps to reduce the 
vascularity of the gland. 
 
 
Discussion: 
 
    In DHGG there is defect in the hormone synthesis (
1) indicated by low T3, T4 and 
high TSH.  Scintigraphy shows high uptake (
2) except DHGG due to trapping defect. There are 
three important steps in thyroxin synthesis: 1) Trapping - Iodide is trapped by the thyroid gland 2) 
Organification – trapped iodide is converted to iodine and with thysine Monoiodothyrosine (MIT) 
and  diiodothyrosine  (DIT)  are  formed.  3)    Coupling  -  MIT  and  DIT  couple  to  form  T3  and 
T4.Trapping defect DHGG has low uptake in scintigraphy studies. It also shows a low salivary: 
plasma radioiodide ratio of 1:1 (Normal: 10:1) (
3). Organification defect is confirmed by perchlorate 
discharge test (
4). This is done in the following way; radiotracer is given and an uptake test is done, 
following which 1 Gm of potassium perchlorate is given orally and an uptake is repeated after 2 
hours. A fall in uptake between 10-20% indicates organification defect. Coupling defect will show 
MIT and DIT in plasma whereas it is normally absent. They are usually present in the first or 
second decade with or without a family history. When DHGG runs in families it is associated with 
mental retardation (
5) and Pendred syndrome (
6,  7). DHGGs are due to TG gene mutation (
8) or 
DHGG presents with huge goiters (
9), soft and highly vascular. 
    Differential diagnosis of IDD should be thought of when there is hypothyroidism 
with increased uptake by scintigaphy studies. IDD has a low 24 hour urinary iodine level.  Aa a 
result of long standing hypothyroidism with sustained high levels of TSH in DHGG the thyroid 
gland  shows  a  highly  cellular  picture  in  FNAC  and  a  HPE  of  such  a  gland  shows  papillary 
proliferation with papillary fronds, nuclear atypia and minimal amount of colloid and hence it is 
mistaken for thyroid cancer (
10). There is increased incidence of malignancy due to overexpression 
of EGF and EGF-R m RNAs in DHGG (
11). 
 
Conclusion: 
    Whenever Dyshormonogenetic goitres present as diffuse goitres they must be treated 
with thyrotherapy. Only when they present as nodular goitres surgery is indicated. Carcinomatous 
change  can  occur  if  DHGGs  are  not  treated  with  thyrotherapy.  Surgery  of  choice  is  total 
thyroidectomy. After thyroidectomy they require lifelong replacement with thyroxine. 
 
References 
1. J.S.Kennedy  J Path (1969) The pathology of dyshormonogenetic goitre 99(3):251 
2. R.F Harvey,etal.   Proceedings of Royal college of Medicine (1971) Dyshormono genetic goitre 
with high circulating levels of TSH  64(3): 299 
3.  Fukate  S,etal. Thyroid  (2010)  Diagnosis  of  iodine  transport  defect:  do  we  need  to  measure 
salivary/serum radioactive iodide to diagnose iodide transport defect 20(12):1419 
4. J Clerk,H Mfnpeyssen,etal. Hormone research in Paediatrics (2008) Scintigraphic imaging of 
paediatric thyroid dysfunction 70(1) 
5.  J Maenpaa  Arch Dis Child(1972) Congenital Hypothyroidism-Aetiology and clinical aspects 
47:914 
6. Bangkova K ,etal. Cas Lek Usk (2008) Pendred syndrome among patients with hypothyroidism- 
genetic diagnosis ,phenotypic variability and occurence of phenocopies 147(12) :616 
7. Borch G etal. J Clin Endocrinol Metab (2009) Genetic cause of goitre and deafness 94(6):2106 
8. Rubio,Ileana G S ,etal. Cuur Opinion Endocrinol, Diab & Obesity(2009) Mutation of Tg gene 
and its relevance to thyroid disorders.16(5):373 
9.  B  C  Reynolds,etal.  Acta  Padiatrica(2006)  Goitrous  congenetal  hypothyroidism  in  a  twin  
 
http://jorl.net/ 
 
pregnancy causing respiratory obstruction at birth: implication for management 95(11):1345 
10.  Ronald  A      Ghossein  ,etal.    Endocrine  Path  (1997)  Dyshormonogenetic      goitre:    a 
clinicopathological study of 65 cases 8(4):283 
11.  Fillipo  Pedrinolo,etal.  Thyroid  (2004)  Overexpression  of  EGF,EGF-R    mRNAs  in 
Dyshormonogenetic goitre 11(1):15 
 
 
 
 
 
 
 
 
 
 
Images: 
 
 
 
 
Image showing perchlorate discharge test 

A Ghossein ,etal. Endocrine Path

Acta Padiatrica(2006) Goitrous congenetal hypothyroidism in a twin http://jorl.net/ pregnancy causing respiratory obstruction at birth: implication for management 95(11):1345

Arch Dis Child(1972) Congenital Hypothyroidism-Aetiology and clinical aspects

Cas Lek Usk

Cuur Opinion Endocrinol, Diab & Obesity(2009) Mutation of Tg gene and its relevance to thyroid disorders.16(5):373

Dyshormono genetic goitre with high circulating levels of

Genetic cause of goitre and deafness 94(6):2106

Mfnpeyssen,etal. Hormone research in Paediatrics

The pathology of dyshormonogenetic goitre 99(3):251

Thyroid

Thyroid (2010) Diagnosis of iodine transport defect: do we need to measure salivary/serum radioactive iodide to diagnose iodide transport defect 20(12):1419

RETROSPECTIVE ANALYSIS OF DYSHORMONGENETIC GOITRE

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RETROSPECTIVE ANALYSIS OF DYSHORMONGENETIC GOITRE

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