scholarly journals Hypogonadotropic-hypogonadism (Kallman Syndrome) in Young Adult

2021 ◽  
Vol 5 (1) ◽  
pp. 43-45
Author(s):  
M. Totaganti ◽  
D. Sharma ◽  
Ravi Kant

Background: Kallmann syndrome (KS) is a rare disorder first described in 1856 and later studied by Kallmann in 1944. It is now designated as olfactogenital dysplasia with an association between agenesis of the olfactory bulbs and hypogonadism. The prevalence of KS is still unknown. The reported incidence is 1 in 8000 to 1 in 10 000 in men and rare in women. More than 24 genes are underlying KS that have been identified. Mutations in these genes are thought to interfere with the expression of cell markers that guide migrating neurons, leading to failed migration of GnRH neurons and olfactory neurons to the forebrain during fetal development. The main clinical characteristics of KS include hypogonadotropic hypogonadism and anosmia or hyposmia. Less common phenotypes include cardiovascular anomalies, unilateral renal agenesis, cleft palate and cleft lip, cryptorchidism and osteoporosis. Magnetic resonance imaging (MRI) can show abnormalities of the olfactory system and other forebrain structures. Other exceptions may be discovered using MRI because of its high resolution and multiplanar capabilities, such as pituitary abnormalities.  

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Yukiko Tabuchi ◽  
Tetsuyuki Yasuda ◽  
Hideaki Kaneto ◽  
Tetsuhiro Kitamura ◽  
Junji Kozawa ◽  
...  

We report a case of 42-year-old male patient with hypogonadotropic hypogonadism. He suffered from general fatigue and erectile dysfunction after the treatment with transdermal fentanyl for chronic pain by traffic injury. Endocrine examinations and hormone stimulating tests showed that he had hypogonadotropic hypogonadism. Brain magnetic resonance imaging (MRI) showed no abnormal findings, and he had no past history of accounting for acquired hypogonadotropic hypogonadism. Therefore, his hypogonadism was diagnosed to be caused by opioid treatment. Although opioid-induced endocrine dysfunctions are not widely recognized, this case suggests that we should consider the possibility of endocrine dysfunctions in patients with opioid treatment.


2019 ◽  
Vol 40 (1) ◽  
pp. 497
Author(s):  
Keylla Helena Nobre Pacifico Pereira ◽  
Caio Henrique Paganini Burini ◽  
Elton Luís Ritir Oliveira ◽  
Lucas Emanuel Ferreira Canuto ◽  
Luiz Eduardo Cruz Dos Santos Correia ◽  
...  

Congenital defects can cause changes in the normal function or morphology of organs, thus contributing to neonatal mortality. Malformations in dogs occur as a result of genetic factors or by the action of teratogenic agents during pregnancy. Genetic defects can be inherited from one or both parents. These defects are more common in purebred puppies or can even be the result of consanguinity. Teratogenic agents, such as toxins, drugs, infectious diseases, mechanical influences, and irradiation, may affect the litters during gestational development. Hypoplasia of ribs has been described in human newborns. It is a rare and lethal malformation of autosomal recessive inheritance that prevents thoracic expansion and reduces pulmonary compliance, causing respiratory failure. A pregnant bitch of undefined breed was submitted to caesarean section. At birth, a neonate exhibited respiratory distress, and the palpation of the thorax indicated absence of ribs. In addition, the newborn had cleft palate and cleft lip, which led to perform the euthanasia of the animal. Post-mortem examination indicated hypoplasia of ribs and unilateral renal agenesis. As in the canine neonate, hypoplasia of ribs in human newborns is also associated with other malformations, such as cleft lip, cleft palate, and urogenital defects. The present report describes the first case of hypoplasia of ribs associated with other malformations in a canine neonate, the cause being possibly related to a genetic hereditary factor.


2018 ◽  
Vol 17 ◽  
pp. e181201
Author(s):  
Eduardo Grossmann ◽  
Thales Botomé Cousen ◽  
Rodrigo Lorenzi Poluha ◽  
Marcus Vinícius Martins Collares ◽  
Enio Setogutti

Aim: The aim of this study was to estimate the prevalence of internal derangements (ID) of temporomandibular joint (TMJ) in patients with cleft-lip/palate. Also, to evaluate the correlation of diagnosis between Research Diagnostic Criteria for temporomandibular disorders (RDC/TMD) clinical examination and Magnetic resonance imaging (MRI). Methods: Twenty patients with cleft-lip/palate, were clinically evaluated by RDC/TMD and by MRI. The ID of TMJ evaluate were disc displacement with reduction (DDWR) and disc displacement without reduction (DDWOR). Results: The present study showed that 9 (45%) of the patients were diagnosed with ID of TMJ (8 [40%] patients with DDWR and 1 [5%] with DDWOR) and 11 (55%) present no disorders, by RDC/TMD. MRI examination revealed that 15 (75%) of the patients had ID of TMJ (13 [65%] patients with DDWR and 2 [10%] with DDWOR) and 5 (25%) present no disorders.  The Kappa index between the clinical and imaging diagnosis was 0.01. Conclusion: In the present study, DDWR was diagnosed in 40-65% by the RDC/TMD and MRI, respectively; DDWOR was diagnosed in 5-10% by the RDC/TMD and MRI, respectively. The diagnostic correlation between the clinical examination based on RDC and on MRI was weak.


2001 ◽  
Vol 38 (4) ◽  
pp. 291-298 ◽  
Author(s):  
Johannes Kleinheinz ◽  
Ulrich Joos

Objective: The aim of the study was to visualize different soft tissues in the perioral, nasal, and paranasal region by means of magnetic resonance imaging (MRI) in patients with unilateral cleft lip and palate (UCLP). Design: In this descriptive study, images of different MRI systems were assessed and compared. Method: MRI was applied in five consecutive patients operated on for UCLP who underwent secondary lip and nasal correction, two patients who had not had UCLP operations, and five healthy volunteers as controls. The mimic muscles, vessels, and nasal cartilages were evaluated. Results: It was possible to visualize different parts of the paranasal and perioral mimic muscles and their interlacement in the upper lip. The nasal cartilages were also visible, and the changes after operation were demonstrated. Conclusions: MRI shows differentiated visualization of soft tissues in the cleft region and their changes after surgery. It is a valuable tool in the preoperative planning and postoperative follow-up in patients with UCLP.


1988 ◽  
Vol 29 (1) ◽  
pp. 7-9 ◽  
Author(s):  
N. Malmgren ◽  
S. Laurin ◽  
N.-R. Lundström

Aberrant left-sided pulmonary artery (pulmonary sling) is an uncommon anomaly, which may cause significant respiratory morbidity. The condition should be considered on finding a mass interposed between the trachea and the esophagus on the esophagogram, but diagnosis is usually made with invasive methods. Magnetic resonance imaging (MRI) has been reported as an excellent method for diagnosing cardiovascular anomalies but the findings at MRI in cases of pulmonary artery sling have not been reported previously. In this communication the use of MRI is described for demonstration of pulmonary sling in three patients.


2016 ◽  
Vol 06 (03) ◽  
pp. 61-63
Author(s):  
Rathika D. Shenoy ◽  
Swathi Sunil Rao ◽  
Vijaya D. Shenoy ◽  
Vikram Shetty

AbstractCaudal regression syndrome is a rare congenital malformation and can be associated with lower limb and renal anomalies. However caudal regression syndrome and cleft lip and palate (CLP) rarely occur together, the prevalence of sacral anomalies in children with CLP being 0.1%. We hereby report an eighteen month old male child with sporadic lumbosacral agenesis type III with tethered cord, hypospadias, unilateral renal agenesis and CLP for its rarity.


2020 ◽  
Vol 3 ◽  
pp. 1
Author(s):  
Devimeenal Jaganathan ◽  
Gopinathan Kathirvelu ◽  
Suriyaprakash Nagarajan ◽  
Usha Nandhini Ganesan

Zinner’s syndrome is a rare congenital abnormality consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction. The mutual embryological origins of the seminal vesicle and the ureteral bud from the Wolffian duct result in both anomalous seminal vesicle and urinary tracts. Most cases have nonspecific symptoms such as prostatism, urinary urgency, dysuria, painful ejaculation, and perineal discomfort. The usual presentation is between the third and fourth decades of life, with infertility being the most common complaint. Ultrasound and magnetic resonance imaging can easily detect this condition. We present here an extremely rare developmental anomaly involving the Wolffian ducts, which would remain undiagnosed but for radiologic imaging.


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