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Case Studies

Diabetes:

Advanced therapeutic modalities
Jhanvi is 6 years old. She had been diagnosed Type I diabetes for last 2 years. It was difficult to keep her blood sugars under control due to erratic eating pattern. She was on 4 shots of insulin. Parents and patient werefed up of multiple shots of insulin. Her HbA1c was 9.9 % suggesting poor glucose control requiring modification in doses. They were counseled and put her on Insulin pump. Doses were adjusted. In between she was also put on continuous glucose monitoring device to assess her control and fine-tuning of her insulin dosage. Her HbA1c is now maintained at 6.7% without much of hypoglycemia.

 
 

Thyroid:

Goiter
Mrs. KD, F/38 is no more going out of her house. She is afraid that she has malignancy in her neck. Well, for any layman, such a huge swelling means nothing but cancer. We evaluated her by getting her thyroid function test done and Fine needle aspiration cytology (FNAC). FNAC is simple bedside test to diagnose what is happening in thyroid. FNAC help in 85% of cases in predicting benign vs. malignancy. Patients was explained about the prognosis and her anxiety levels were brought down. Urgency for surgery was curtailed. She was operated after several months as per her convenience.

Hyperthyroid
Mr. RJ, M/40, found difficult to live in his society due to his eyes were protruding day by day. His family and children around found him scary. He knew about his illness for almost an year, but never took the treatment on regular basis.

He was evaluated and found to suffering from Graves’ Disease + Graves’ Opthalmopathy. He was put on medical therapy. His thyroid levels got normal after 3-4 months but his eyes were not getting controlled. He was subjected for orbitoplasty.

 
 

Adrenal:

Addison’s Disease
Mrs. MD, F/24, presented with recurrent vomiting and loss of energy. Every time she has these problems, she was admitted in local hospital and treated with IV fluids. Luckily, she was referred to us and she looked like this (Fig. 1).

Well, any of the family physician would look at her and tell that she was a case of malnourishment or TB. But for us, it was an interesting case. Straight forward we tested her for Adrenal insufficiency. He underwent dynamic hormone testing called SYNACTHEN TEST and we found that she was suffering from ADDISON’s
disease. We treated her with replacement doses of steroid and the response is but obvious seen over here (fig 2).

Cushing’s Disease
Master RD, M/12, had been putting on excess weight for last 1 year. Parent complained that his face has swollen and it’s round shaped now. He was also finding difficulty in getting up from squatting posture. He was referred for further work-up.

We evaluated him and found features of Cushing’s syndrome. He had typical straie over his abdomen. He had dorso-cervial hump, commonly known as ‘buffalo hump’. He underwent dynamic hormone testing for establishing diagnosis. Low dose and high dose dexamethasone suppression tests were performed. Diagnosis of Cushing’s disease with pituitary micro-adenoma was confirmed. He was subjected for Trans-sphenoidal adenectomy. He was relieved for all his symptoms following surgery.

 
 

Obesity:
Mr. SD, M/37 a goldsmith by profession from Saurastra. He was fond of typical kathiawadi food and bhaija’s. His profession was absolutely sedentary. He came with weight of 141 kg and BMI of 58 Kg/m2. He was reluctant for bariatric surgery and was ready to take up challenge with medical therapy. He was evaluated for secondary cause of obesity which were absent. He was treated with medical therapy in form of diet, exercise and drugs. He started losing weight. His weigh loss in initial 3 months was 20 kg. This weight loss led to gain in confidence. His mobility became better and lost another 25 kg in next 6 months. He reached at 95 kg mark and was able to maintain at that level. This amazing result is proof of patients determination and confidence in the treating doctor.

 
 

Rickets:

VDDR
MJ, M/10 years, had been diagnosed Rickets by his pediatrician. His S. Calcium and Phosphorus level had been low. His PTH level was markedly elevated.Several forms of Vitamin D were used in mega doses but there was no effect. Rickets was progressing and at the same time he was losing his scalp hair. It was a difficult case to diagnose. With help of further investigation and the clinical picture, diagnosis of Vitmain D dependent rickets type II was confirmed. Patient was put on high dose of calcitriol. Rachitic changes improved with that.

Hypophosphatemic Rickets
RC, F/7 years, had been complaining of bowing of legs. As usual she wastreared with mega doses of vitamin D but her symptoms did not improve. Her S. Calcium was in normal rangeand Phosphorus level had been low. Her PTH level was mildly elevated. We suspected Hypophosphatemic Rickets. We calculated her TmP/GFR and it was very low. We put her on Phosphate supplement. Her rachitic changes improved in 3 months.

 
 

GHD:
Two brothers – Ram and Laxman. It was difficult to say who was elder and who was younger. B’coz younger one Laxmanwas taller than elder Ram. It was not very difficult to say that elder one Ramwas suffering from growth hormone deficiency. Ram was initiated on GH therapy. He had first year gain of height by 11 cm, which used to in tune of 2 cm earlier. With, 3 years of therapy, now Ram has gained considerable height and looks like a normal child.

Often parent get their child at the age of 16-18 yrs saying that child is not growing. But at time, already time is gone.

PCOS, Hirsutism
Miss AS is 21. She had been studying hard for her CA course and putting on weight also. She had noticed since last 8 months her menses had been delayed for more than 10 days. She had also noticed facial hair growth on upper lips and chin. Neck was getting darker day by day. Parents were worried as she was approaching marriageable age.

Ferriman& Gallway score for her hirsutism was 16/32. She was evaluated for all causes for hyperandorgenemia. She was diagnosed with PCOD. She was put on anti-androgens and insulin sensitizers.

Primary amenorrohea
Miss AK, is 16. She had poor breast bud development and still she has not achieved menarche. USG done at local hospital, revealed absence of uterus. Patient, parent and relatives were worried. We evaluated the patient. We found that she was suffering from Hypogonodotropic hypogonadism. We repeated her USG and found that she had infantile uterus. She was put on estrogen. There was gradual improvement in her breast size and she attained menarche 2 years after starting the treatment.

 
 

Parathyroid :
Hypocalcemia’s
RV, F/19 had been seeing a neurologist for seizures. She had been treated with anti-eplileptics but with variable results. Due to all those medication she had been losing scalp hairs. She was referred to look for some endocrine cause for the same. We evaluated her and found she was suffering from severe hypocalcemia, which could have been probable cause for her seizures. Her PTH level were low. It confirmed the diagnosis of Idiopathic Hypoparathyroidism. Her seizure and tetany disappeared after treatment. Even she re-grew her scalp hairs within few months.

Hypercalcemia PHPT
Mrs. AP, F/29 had renal stone 2 times earlier and had undergone lithotripsy. This time she had presented with fracture on trivial trauma. Husband was worried and had a strong suspicion that there is some other underlying cause which has not been investigated. A self-help use of internet, brought them to us. It is more of delight to have a patient with Primary Hyperparathyroidism. She was evaluated and we found her S. Calcium was 15.2 mg/dl (N: 8.8-10.5). Her PTH level was 336 ng/ml (N: 12-70). There was no other differential diagnosis than Primary Hyperparathyroidism. After localizing the gland, she was operated. Fracture healed uneventful and she did not had any more renal stones.

Sheehan’s
Mrs. KM, F/46 presented with lack of energy and giddiness. She looked quite pale. Her menses had ceased 20 yrs ago after her last delivery. She did not lactate following childbirth. However, due to her busy schedule and lack of proper care, she ignored her symptoms for last many years. But now with each episode of even cold and cough led her to severe weakness and time to convalesce was very long. She was suspected to have Sheehan’s syndrome. She was evaluated and found to have secondary hypothyroidism. Her synacthen test revealed poor response to ACTH stimulation. Her LH, FSH levels were normal despite menses which ceased 20 yrs ago. All this symptoms and lab reports confirmed the diagnosis of “SHEEHAN” syndrome. She responded well to hormone replacement therapy.She is much pink and lot more active than before.

 
 

Precocity:
Early development of sexual characters in children is defined as precocity. There are various causes. Some of uncommon causes are been put over here.

Hypothyroid
UM, F/4 years, was brought to us with full social stress in the family with complains of breast development and single episode of vaginal bleed (spotting). Diagnosis of precocity was obvious. But looking as the child, she looked pale and puffy. We were made to think about her thyroid status. Thyroid test revealed high TSH and very low T3/T4. Diagnosis of Primary Hypothyroidism + Psuedo-precocity was confirmed. We initiated her on L-Thyroxine. Breast size regressed. No more vaginal bleed. Child was pink and active. Clinical judgment saved the child from routine GnRH analog therapy, which would have costed her Rs. 45,000 per annum along with agony of injection.

Ledig’s cell tumour
RP, M/5, presented with appearance of pubic hair stage III, enlargement of penis and frequent penile erections. Parent got worried, and were correctly referred to endocrinologist. We evaluated and confirmed precocious puberty. His S. Testosterone was 1770 ng/ml (Pre-pubertal N: 10 ; Adult N: 280-910). On, evaluation, we found that he had asymmetry in testicular size. Rt. Testis was 4 ml and left was 2 ml. It rose a suspicion of testicular pathology. USG of testis was done and we found a small mass lesion on the upper pole of Rt. Testis. Considering the possibility of Leydig’s cell tumour, he was operated. Clinical diagnosis was confirmed on histopathology. His Testosterone reverted back to normal. His is currently drug free and symptoms have disappeared.

CAH
Md.A, M/5, presented with penile erections and vulgar activity. His change in behavior was not acceptable to the parents. He was often beaten by his parent for such behavior. After surfing on the internet, father could find out which doctor to be consulted.

We evaluated him and found pubic hair stage III, enlargement of penis. Diagnosis of precocious puberty was certain. His S. Testosterone was 430 ng/ml (Pre-pubertal N: 10 ). GnRH stimulation test was favoring peripheral cause. Dexamethsone suppression test was done which showed suppression of testosterone levels. Diagnosis of CAH leading to precocity was established. Pt. was put on hydrocortisone. His Testosterone level gone back to pre-pubertal level with in 4 weeks.

 
 

Hypogonadism:

Kallman’ s
Rl, M/24, had been planning to get married. He came to us with concern that his genitals have not grown as per his age. He also had poor facial hair growth. His voice was also high pitch.

We evaluated him and found that his genitals were pre-pubertal. He had poor pubic hair growth. His testes were small.

We conducted lab test and found FSH levels were 1.2IU/L, LH was 0.71 IU/L and S. Testosterone was in the pre-pubertal range. Looking at his report, he was diagnosis of KALLMAN’S SYNDROME. His MRI of brain was done to rule out any sellar or suprasellar mass lesion. He was put on testosterone supplement along with HCG injections. He has been doing well. His genitals have grown to adult size and he is enjoying his married life. His testicular size has increased from 1 ml to 8 ml now.

Klinefelter’s
ZR, M/17, had been troubled by growing breast tissue. Being tender age, he was not able to convey it to parents for almost an year. His behavior has changed due to this illness. His parents wisely brought him to our centre.

Klinefelter’s ZR, M/17, had been troubled by growing breast tissue. Being tender age, he was not able to convey it to parents for almost an year. His behavior has changed due to this illness. His parents wisely brought him to our centre.

We conducted lab test and found FSH levels were 64IU/L and S. Testosterone was in the pre-pubertal range. Looking at his report, he was further tested for karyotype and we found it to be 47XXY. Diagnosis of KLINEFELTER’S SYNDROME was confirmed. He was put on testosterone supplement and prognosis was explained.