scholarly journals Severe depression and rhabdomyolysis as “masks” of primary hypothyroidism: clinical cases

2019 ◽  
Vol 47 (2) ◽  
pp. 186-194 ◽  
Author(s):  
T. I. Kulagina ◽  
N. V. Koriakova ◽  
O. A. Rodionova ◽  
N. N. Vezikova ◽  
I. I. Kannoeva

Rationale: Primary hypothyroidism is one of the most common endocrine disorders. Difficulties in its diagnosis are related to the lack of specific and pathognomonic clinical symptoms of the disease. It is not infrequent that before the right diagnosis is made, patients with hypothyroidism go a  long way of examinations and consultations of various specialists; we have illustrated this by two clinical cases.Clinical case No. 1 was a 69-year old woman with a  late diagnosis of severe primary hypothyroidism. Despite the presence of typical clinical signs of hypothyroidism, such as epidermal and edematous syndromes, encephalopathy, depression, and anemia, some clinical patterns (significant weight loss, ascites, low cholesterol, protein, electrolyte levels, and severe anemia) directed the diagnostic search towards oncology. It was the oncologist who was the first to suggest hypothyroidism that was later confirmed by high thyroid-stimulating hormone (TSH) levels.Clinical case No. 2 was a case of hypothyroidism in a young man with a baseline history of kidney disease. Fatigue, myalgia, neurological abnormalities, cytolysis and hypercholesterolemia were the leading symptoms that progressed steadily and led to disability.Conclusion: These clinical cases demonstrate the variety of clinical symptoms in manifest hypothyroidism and emphasize the significance of high awareness of this disorder among various medical specialties. It is of note that laboratory tests to diagnose primary hypothyroidism are very simple and available (high serum TSH level is enough for the diagnosis) and treatment with levothyroxine sodium is very effective. 

2015 ◽  
Vol 67 (5) ◽  
pp. 1226-1230
Author(s):  
L. M. Laskoski ◽  
R. Locatelli Dittrich ◽  
C. A. A Valadão ◽  
M. L. Castro ◽  
F. F. Araujo ◽  
...  

ABSTRACTLaminitis in horses is often associated with endocrine disorders, especially the pituitary pars intermedia dysfunction (PPID) in older animals. Morphologic exams of the laminar tissue of the hoof were performed in two horses with suspected PPID, with no clinical signs of laminitis. Changes compatible with laminitis of endocrine origin were observed, such as rounding of the nuclei of the basal cells, thinning and stretching of the secondary epidermal laminae and tissue proliferation. PPID horses with no clinical signs of laminitis may be affected by lesions of the laminar tissue of the hoof that compromise the integrity of the dermal-epidermal junction and may develop clinical symptoms of the disease. It has been suggested that the development stage of endocrine laminitis is longer, but further studies should be conducted to confirm it.


1977 ◽  
Vol 84 (3) ◽  
pp. 449-460 ◽  
Author(s):  
N. A. Samaan ◽  
M. E. Leavens ◽  
J. H. Jesse

ABSTRACT The immunoreactive serum human prolactin (PRL) level was measured before and after intravenous administration of 500 μg of thyrotrophinreleasing hormone (TRH) in 11 patients with "functionless" chromophobe adenomas before and after surgery and after radiotherapy in 6 of these patients. The results were compared to other pituitary function tests. Two of the patients studied had recurrent disease after previous pituitary surgery and radiotherapy. Five patients had pituitary surgery through the transfrontal route, while 6 had adenoma removal via the transnasal transsphenoidal route. Before surgery, the serum PRL concentration was abnormally high in 4 patients, before and after TRH administration. It was normal in 6 and subnormal in 1 patient who had had previous therapy. Two of the patients studied showed high serum thyroid-stimulating hormone (TSH) levels in the presence of low serum T3 and T4 suggesting primary hypothyroidism with a secondary TSH-producing pituitary tumour. After surgery all patients showed a significant decrease of the serum PRL level. This contrasts with more variable results in the measurements of other pituitary hormones. Post-operative radiotherapy produced no significant additional change in serum PRL levels in 5 of the 6 patients measured 6 months to 4 years after radiotherapy. Five of the 6 patients who had adenoma removed via the transsphenoidal route required no cortisol replacement and 4 remained euthyroid, whereas all 5 patients after transfrontal surgery required both cortisol and thyroid hormone replacement. These results indicate: (1) that measurement of serum PRL levels at basal and after TRH administration in patients with "functionless" chromophobe adenomas before and after treatment may be the best index for evaluating the effect of therapy; (2) that adenoma removal may be followed by preservation of normal pituitary function, but this is more likely to occur if the transsphenoidal approach is used; and (3) that primary thyroid insufficiency may be associated with a pituitary adenoma.


2019 ◽  
Vol 47 (1) ◽  
pp. 83-93
Author(s):  
Yu. Yu. Kotalevskaya ◽  
N. M. Marycheva

Background: Epidermolysis bullosa (EB) is a rare hereditary skin disease. It is subdivided into EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. JEB is diagnosed in 2 per 1,000,000 of the population. There are few descriptions of clinical JEB cases in the literature. Clinical diagnosis of JEB and its subtypes is a challenge, especially in the early age. The paper presents 2 clinical cases of JEB in patients of the West Slavonic origin. Clinical case No. 1 was a girl of Ukrainian ethnicity, with confirmed definitive diagnosis of severe generalized JEB. Molecular genetic tests identified mutations of the LAMA3 gene that had not been described previously. The patient died at the age of 24 months from acute respiratory failure. When the patient was alive, her EB type and subtype was not possible to identify, because she had a combination of clinical manifestations typical for various JEB subtypes. Despite such symptoms as hoarse voice, stenoses, granulation tissue of typical location, laryngeal granulations, the girl was steadily gaining weight, with some periods of relative stabilization of the skin disease; she also had longer life longevity than was common for patients with severe generalized JEB. All this made a precise diagnosis difficult. Clinical case No. 2: an ethnic Russian boy with non-classified JEB. Molecular genetic testing helped to identify a homozygote mutation in the LAMA3 gene that had not been previously described; reliable determination of the subtype was not possible. The patient had mixed clinical manifestation similar both to generalized severe JEB and to laryngo-onycho-cutaneous (LOC) syndrome. During his lifetime, the patient was clinically diagnosed with Hallopeau acrodermatitis and LOC syndrome. The differential diagnostic problems were associated with the presence of signs not typical for each of the subtypes. Significant life longevity of the proband is not characteristic for severe generalized JEB (at the time of the publication the patient is 13 years old), whereas for LOC syndrome the absence of eye involvement is not typical, as well as severe laryngeal involvement at adolescence.Conclusion: Detailed descriptions of phenotype of JEB subtypes including rare and minimal clinical signs can be useful to study the clinical manifestations and natural course of the disease, including its differential diagnosis.


Author(s):  
Chee Kin Lim ◽  
Chantal T. Rosa ◽  
Yolanda De Witt ◽  
Johan P. Schoeman

A 3-month-old male domestic short-hair kitten was presented with chronic constipation and disproportionate dwarfism. Radiographs of the long bones and spine revealed delayed epiphyseal ossification and epiphyseal dysgenesis. Diagnosis of congenital primary hypothyroidism was confirmed by low serum total thyroxine and high thyroid stimulating hormone concentrations. Appropriate supplementation of levothyroxine was instituted. The kitten subsequently developed mild renal azotaemia and renal proteinuria, possibly as a consequence of treatment or an unmasked congenital renal developmental abnormality. Early recognition, diagnosis and treatment are vital as alleviation of clinical signs may depend on the cat’s age at the time of diagnosis.


PEDIATRICS ◽  
1979 ◽  
Vol 63 (2) ◽  
pp. 180-191 ◽  
Author(s):  
Stephen H. LaFranchi ◽  
William H. Murphey ◽  
Thomas P. Foley ◽  
P. Reed Larsen ◽  
Neil R.M. Buist

The Northwest Regional Screening Program to detect congenital hypothyroidism in infants born in Oregon, Montana, Alaska, and Idaho (combined birthrate of 69,000/yr) was added to our ongoing screening program in 1975. The program utilizes dried blood filter paper specimens collected routinely in the first few days of life in all four states and again at about 6 weeks of age in Oregon only. The screening tests consist of an initial thyroxine (T4) measurement; a thyroid-stimulating hormone (TSH) determination is performed on those specimens with T4 concentrations in the lowest 3% group. Serum samples obtained by venipuncture are requested for confirmation of the diagnosis. In the first two years of the program, 25 infants with primary hypothyroidism were detected among 110,667 infants screened, a frequency of 1:4,430. Fourteen cases of thyroxine-binding globulin deficiency were also detected, a frequency of 1:7,900. Using the T4 followed by TSH testing approach, the frequency of requests for repeat specimens was 0.4% in Oregon and 0.05% in the other states. The cost per specimen was $1.96. The majority of infants lacked clinical signs or symptoms of hypothyroidism; only one infant was clinically suspected of having hypothyroidism prior to detection. The most common neonatal symptoms were constipation, lethargy, and prolonged jaundice, while the most common physical signs were hypotonia, umbilical hernia, and large fontanels. Thyroid scans showed the most common etiology to be thyroid aplasia, followed by an ectopic gland, hypoplasia, and goitèr. Serum T4 concentrations were lowest in those infants with aplasia, intermediate in infants with an ectopic gland or hypoplasia, and normal in the infant with the goiter. Neonatal hypothyroidism varies in degree and has several different causes; the capacity to secrete thyroid hormone, the duration before hypothyroidism becomes clinically manifest, and possibly the eventual prognosis for intellectual function depend on the nature of the underlying cause. While the mean age at treatment was 59 days, the goal of diagnosing congenital hypothyroidism and treating affected infants by 1 month of age seems realistic.


2021 ◽  
Vol 11 (3) ◽  
pp. 1020-1027
Author(s):  
Qing Duan ◽  
Na Zhuo ◽  
Tong Sun ◽  
Xuening Zhang

Breast mass is one of the clinical signs of breast lesions. Clinically, breast tumors can occur in breast cancer, breast tuberculosis, breast duct dilatation, breast cysts, breast fibroadenoma, and breast hyperplasia. Its pathogenesis is not clear. The occurrence of breast lesions is related to many factors, such as diet, trauma, genetic mutations, inheritance, endocrine disorders, breast development, and chronic stimuli. With the continuous improvement of examination equipment and continuous improvement of the treatment level, the incidence of breast masses is increasing. For a long time, clinicians have mostly used hand palpation methods to complete the diagnosis of breast masses based on the relatively hard properties of breast masses and adjacent tissues. It is more difficult to diagnose patients based on their clinical symptoms and signs, and it is easy to miss the diagnosis. Choosing the appropriate diagnostic method to confirm breast mass disease has become the first task for the diagnosis and treatment of breast mass. Ultrasound elastography is a new ultrasound examination method. It diagnoses the elasticity and hardness of breast masses by using corresponding characteristics. The imaging principle is to apply pressure to the tissue at the lesion site to determine its elasticity and hardness to identify the nature of the tumor. This article explores the clinical value of ultrasound elastography in the effective diagnosis of breast masses. Compared with the diagnosis results of ordinary ultrasound, the parameters such as the position, shape, size, boundary, internal echo, and rear echo of the focused mass were observed. Facts have proved that elastography can be used to make a qualitative differential diagnosis of benign and malignant breast masses from another angle according to the different characteristics of the hardness of the tissue being examined. It is non-invasive, non-radiative, low-cost, and easy for patients to accept. Provide valuable clinical diagnosis basis for early detection and treatment of breast masses.


Author(s):  
Umakanta Mahapatra ◽  
Ram N. Maiti ◽  
Bulbul Purkait ◽  
Dipan Saha ◽  
Sekhar Mandal

Background: One of the common endocrine disorders in India as well as in the world is hypothyroidism. The treatment of choice is giving levothyroxine supplement orally to the patient in an empty stomach mostly in the morning. Often many patients feel uncomfortable or inconvenient to take levothyroxine in the early morning. In those patients changing the administration time of levothyroxine may get necessary to increase the patient compliance.Methods: Drug naïve patients with primary hypothyroidism, randomly selected and assigned into two groups. Patients in group 1 received levothyroxine in the morning minimum one hour before breakfast and in group 2 levothyroxine was given at least two hours after dinner. Thyroid profile of the subjects was assessed at the baseline and reassessed after 8 and 24 weeks and compared with the baseline values.Results: After 24 weeks we found significant differences in the thyroid profile of the subjects between two groups. Serum thyroid stimulating hormone (TSH) was found to be 8.70 ± 3.3 in the morning group and 7.0 ± 2.3 in the evening group. TSH levels in the subjects taking the evening dose got closer to the therapeutic target range earlier than the ones taking the drug in the morning.Conclusions: Levothyroxine intake at bedtime can be a good alternative to levothyroxine intake in the morning for the patients taking concomitant medications.


Author(s):  
V.M. Husiev ◽  
◽  
D.S. Khapchenkova ◽  
V.E. Kleban ◽  
◽  
...  

Acrocephalosyndactyly (ACS) is a group of multiple malformations, the main clinical manifestations of which are acrocephaly and syndactyly. The most common forms are Apert (type I), Pfeiffer (type V), Setra–Hotzen (type II) syndromes. Apert syndrome is the most explored and common form of all types of ACS and Apert syndrome is estimated to occur in 1 in: 100 000 newborns. The syndrome is inherited in an autosomal dominant manner. If the gene is carried by one of the parents, the risk of having a child with Apert syndrome is 50%. The syndrome genome (FGFR2) is located on the long arm of chromosome 10 at locus 10q26. Apert syndrome occurs due to mutations at this locus, but the children karyotype is not changed. The pathognomonic clinical signs of Apert syndrome are craniofacial dysostosis and symmetrical syndactyly of the hands and feet. Acrocephaly («tower skull») — is a consequence of early synostosis of some sutures of the skull. Orbital hypertelorism and exophthalmos are referred to typical facial changes. Among other abnormalities there are heart and vascular defects (25%), cleft palate, malformations of the gastrointestinal tract and kidneys. The diagnosis is made on the basis of clinical symptoms. No treatment has been developed. Life expectancy is short. Purpose — to present a clinical case of a newborn with Apert syndrome. Clinical case. Apert syndrome was suspected prenatally, confirmed after birth. The newborn girl had the characteristic signs of the above-described pathology: «tower head», hypertelorism, saddle bridge of the nose, closed large fontanelle, phalanges of the first finger were wide, the proximal phalanx was triangular, complete cutaneous syndactyly of the II–IV fingers was observed symmetrical on both upper extremities; on the lower extremities — thickening of the proximal phalanges of the big toes, complete cutaneous syndactyly of the II–IV toes. Conclusions. The article describes a clinical case of a child with Apert syndrome. Prenatal diagnosis takes one of the leading places in confirming genetic abnormalities, determining the prognosis for life. Genetic counseling for parents is necessary and important at all stages of pregnancy planning. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Apert syndrome, children, prenatal diagnosis.


Author(s):  
А.G. Babintseva ◽  
◽  
Yu.Yu. Khodzynska ◽  
M.V. Khoma ◽  
S.I. Basistyi ◽  
...  

Congenital diaphragmatic hernia is a defect of diaphragm development which in the majority of cases is associated with penetration of the abdominal organs into the chest. Purpose is to draw attention of pediatricians, general practitioners and family doctors, pediatric surgeons to the issue of timely diagnostics of congenital diaphragmatic hernia since its clinical signs are manifested in patients of a post-neonatal age. Clinical cases. The first review demonstrates a clinical case of a right false congenital diaphragmatic hernia of 6-month child with acute onset of the disease manifested by combination of respiratory disorders and pathological intestinal symptoms, visualization of intestinal loops in the right side of the chest. The second clinical case describes left false congenital diaphragmatic hernia of a 10-month child with subacute onset of the disease, prevailing pathological respiratory symptoms and visualization of the stomach in the left side of the chest. Due to timely diagnostic examination and surgery performed both patients were discharged home in a satisfactory condition. Conclusions. In spite of more favourable course of congenital diaphragmatic hernia in children older than 1 month of age, its development can be of a fulminant character and associated with danger for life. It stipulates the necessity to carry out an appropriate differential-diagnostic complex for all the infants with acute or chronic respiratory disorders and pathological intestinal symptoms including a competent interpretation of the results obtained after plan and contrast radiography of the thoracic and abdominal organs. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: congenital diaphragmatic hernia; Infancy.


2014 ◽  
Vol 83 (6) ◽  
pp. 306-311 ◽  
Author(s):  
S. Cornelissen ◽  
K. De Roover ◽  
D. Paepe ◽  
M. Hesta ◽  
E. Van der Meulen ◽  
...  

In this report, a clinical case of dietary hyperthyroidism in a dog is described. An elevenmonth- old, male, intact Rottweiler was presented because of panting, weight loss and increased serum total thyroxine concentration. A complete history revealed that the dog was fed a bone and raw food diet, which made dietary induced hyperthyroidism very likely. Other possible differentials were excluded after a thorough diagnostic work-up. Finally, after changing towards a traditional commercial maintenance diet, the clinical symptoms resolved and thyroid blood values normalized. In every dog with an increased serum total thyroxine concentration, with or without clinical signs of hyperthyroidism, a thorough dietary history should be obtained. Owners should be informed that raw food diets tend to be nutritionally imbalanced, carry the risk of bacterial contamination, and have other safety problems. Therefore, veterinarians should recommend against feeding these diets.


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