Clinical Case Studies

[Michael Scally MD]

Ashby HL, Gama RM, Sur H, Inglis J, Ford C, Gama R. Hypergonadotrophic hypogonadism due to testicular adrenal rest tumours presenting with hypogonadotrophic hypergonadism. Ann Clin Biochem. http://acb.rsmjournals.com/content/early/2012/06/22/acb.2011.011236.abstract (Hypergonadotrophic hypogonadism due to testicular adrenal rest tumours presenting with hypogonadotrophic hypergonadism)

Primary testicular failure is characterized by low serum testosterone with appropriately high serum gonadotrophins, that is hypergonadotrophic hypogonadism. We report on a 27-year-old man with congenital adrenal hyperplasia (CAH) and infertility due to testicular adrenal rest rumours (TART) resulting in primary testicular failure but presenting with azoospermia, elevated serum testosterone and very low serum gonadotrophins. Hypergonadotrophic hypogonadism was unmasked by increasing glucocorticoid dosage. It is important to recognise the limitations of follicle-stimulating hormone, luteinising hormone and testosterone in assessing testicular function in men with CAH. Abnormal semen analysis may be the best indicator of testicular dysfunction in men with CAH.

 

[Michael Scally MD]

A Crusted Plaque On The Right Nipple

Chiu H TT. A crusted plaque on the right nipple. JAMA: The Journal of the American Medical Association 2012;308(4):403-4. JAMA Network | JAMA: The Journal of the American Medical Association | A Crusted Plaque on the Right Nipple

A healthy 27-year-old heterosexual man presents with a crusted plaque on his right nipple. The lesion formed gradually over a week after a bite during sexual intercourse and has persisted for a month. The patient reports that over the following 2 to 3 weeks, no significant change in size or morphology of this lesion occurred. The lesion is not painful; neither fever nor associated systemic symptoms are noted. Now, 1 month later, the patient presents with a generalized asymptomatic skin eruption. Physical examination reveals generalized pink macules on the trunk and extremities (Figure 1A). A crusted, erythematous plaque is noted over the enlarged right nipple (Figure 1B).



DIAGNOSIS - Chancre Of The Nipple With Secondary Syphilis

The key clinical feature is to recognize the association between the crusted nipple lesion and the subsequent development of a generalized macular rash after sexual contact. Physicians should include syphilis in the differential diagnosis, not just treat the lesion as a human bite, even though the nipple is not a common site for syphilitic chancre.

This patient received a rapid plasma reagin test and skin biopsy at his first visit to confirm the exact cause of the nipple lesion. The laboratory investigations showed a positive rapid plasma reagin result (titer, 1:64) and TPHA (titer, 1:2560). Enzyme-linked immunoassay test for human immunodeficiency virus was negative. Skin biopsy demonstrated epidermal hyperplasia with focal ulceration and a dense, superficial dermal infiltration. Under higher magnification, there was a lichenoid infiltrate composed of lymphoplasma and histiocytic cells around the dermoepidermal junction and perivascular areas. Immunohistochemistry demonstrated numerous spirochetes in the epidermis and dermis. Both the nipple lesion and the generalized pink macules gradually resolved after 2 weekly intramuscular injections of benzathine penicillin G, 2.4 million units.

 

[Michael Scally MD]

Unexpected Swallowing of a Knife

A 30-year-old woman with a history of bulimia presented to the emergency department after swallowing a knife. She inserted the knife into the posterior oropharynx to demonstrate to her companions that she no longer had a gag reflex. When she unexpectedly laughed, the knife migrated into her esophagus, causing chest discomfort and hematemesis. Anteroposterior chest and abdominal radiographs (Panels A and B) revealed a knife within the distal esophagus and proximal stomach, without evidence of pneumothorax, pneumomediastinum, or pneumoperitoneum. A rigid esophagogastroduodenoscopy was performed to remove the knife. The esophagus and stomach otherwise appeared grossly normal. A swallowing study showed no extravasation of contrast material from the upper gastrointestinal tract, and the patient subsequently resumed eating without complications. Her husband later disclosed that 4 years earlier she had swallowed a knife that required surgical removal with exploratory laparotomy. Consultation with a psychiatrist was recommended, and the patient was later transferred to an inpatient psychiatric unit.



Venado A, Prebil S. Unexpected Swallowing of a Knife. New England Journal of Medicine 2012;367(5):451. MMS: Error

 

[Michael Scally MD]

Bilateral Anterior Shoulder Dislocation
MMS: Error



A 34-year-old man with a history of recurrent dislocations of both shoulders presented with sudden excruciating pain in both arms and an inability to move either of them, after attempting to lift a weight equal to his body weight above his head in the gym. On physical examination, the patient was unable to move either shoulder, and squaring of the normal shoulder contour was observed bilaterally (Panel A). Radiographs showed the anterior and inferior positions of the humeral head relative to the glenoid fossa (Panel B). The patient received a diagnosis of bilateral anterior shoulder dislocation. After the patient received morphine for pain relief, the shoulder dislocations were reduced individually with the use of gentle external rotation. Anterior shoulder dislocation accounts for the majority of joint dislocations seen in the emergency department. The diagnosis of dislocation is based on a number of factors, including pain and range of movement of the afflicted joint. Asymmetry of the joint typically heralds a dislocation. When bilateral dislocation occurs, this clinical asymmetry is absent, so attention must be paid to the clinical history and physical findings.

 

[Michael Scally MD]

Burton's Line
MMS: Error



An 18-year-old nonsmoking man presented to the emergency department with a 1-week history of diffuse, colicky abdominal pain. He had had no change in his bowel or bladder function. He had worked in a battery-recycling factory for the past year. Examination revealed diffuse abdominal tenderness, as well as a bluish line around the gums, known as Burton's line. Results of routine hematologic, liver-function, and kidney-function tests were normal. Ultrasonography of the abdomen was unrevealing. The blood lead level was elevated at 81 ng per deciliter (3.9 nmol per liter) (reference range, <10 ng per deciliter [0.5 nmol per liter]). The patient was admitted to the hospital and started on chelation therapy with penicillamine. He was discharged in 2 weeks, after the pain had subsided and the blood lead level had declined; the Burton's line had disappeared. He was counseled regarding potential occupational exposure.

In developing countries, occupational exposure is the main cause of lead poisoning. Persons working at sites where batteries or plastics are manufactured, at printing or recycling factories, or in the paint or ceramics industries are at greatest risk. Preventing exposure is the most critical intervention. In developing countries such as India that have a growing recycling industry, education regarding the hazards of heavy-metal poisoning is important.

 

[Michael Scally MD]

A Tickling in the Ear
MMS: Error



A 63-year-old man presented with acute pruritus and bubbling tinnitus in his right ear, without hearing loss. Otoscopy revealed a tick anchored to the anterosuperior portion of the right tympanic membrane. The tick was removed by suction after a topical anesthetic agent was applied to the patient's ear. The tinnitus resolved immediately. Aside from mild hyperemia, no visible damage to the tympanic membrane was observed. The tick was identified as the nymph form of Ixodes ricinus, a species frequently found on cats throughout Europe. This tick can serve as a vector for Borrelia burgdorferi. In addition to being able to transmit disease, ticks and other insects can be found as foreign bodies in the outer ear canal. The differential diagnosis for acute tinnitus and pruritus without hearing loss should prompt evaluation for a foreign body in the outer ear canal. Two weeks after presentation, this patient had a normal tympanic membrane. Serologic studies for B. burgdorferiremained negative. On review, the patient remembered having had close contact with his domestic cat the evening before the symptoms began.

 

[Michael Scally MD]

Bicalutamide Gynecomastia

Michalopoulos NV, Keshtgar MR. Gynecomastia Induced by Prostate-Cancer Treatment. New England Journal of Medicine 2012;367(15):1449. MMS: Error

A 60-year-old man presented to the breast clinic with gynecomastia. A high-grade, advanced prostate cancer (T3N1M0; Gleason score, 9 [grade 4 plus grade 5]) had been diagnosed 4 years earlier, and the patient was treated with radiotherapy and adjuvant hormonal therapy. Hormonal treatment consisted of an androgen-receptor inhibitor (bicalutamide at a dose of 150 mg daily) for 2.5 years. Six months after the initiation of treatment, progressive enlargement of the breasts developed, with pain bilaterally. After therapy was discontinued, the pain resolved; however, the size of the breasts remained static and caused the patient considerable social embarrassment. Examination of the breasts did not reveal any suspicious abnormality. Surgical correction was performed. Gynecomastia occurs in up to 80% of patients who receive nonsteroidal antiandrogens (e.g., bicalutamide, flutamide, or nilutamide), usually within the first 6 to 9 months after the initiation of treatment.

 

[Michael Scally MD]

Mydriasis in the Garden
MMS: Error

A healthy 3-year old boy was brought to our emergency department because of an acutely dilated right pupil (Panel A), which developed after he had played in the garden. Half an hour before presentation, his parents noticed he had been crying. They reported no fall and no ocular or head trauma. The right eye showed no pupillary light reflex and no accommodation. Physical examination was otherwise normal. A detailed history revealed that he had touched and held a flower from an angel's trumpet plant (Panel B) and then rubbed his right eye. Angel's trumpet, a member of the genus brugmansia, is an ornamental plant from South America that is increasingly found worldwide and contains parasympatholytic alkaloids such as scopolamine, hyoscyamine, and atropine. In cases of sudden, unilateral, nonreactive mydriasis in healthy children, exposure to angel's trumpet should be suspected. Severe intoxication resulting from ingestion can lead to hallucinations, hyperthermia, convulsions, flaccid paralysis, and death. In the absence of any other sign of toxicity, we reassured the parents and discharged the child. The mydriasis disappeared spontaneously within 3 days.

 

[Michael Scally MD]

Cutis Verticis Gyrata

A 21-year-old man presented with scalp changes that had begun 2 years earlier. Physical examination revealed excessive growth of the scalp, with the formation of convoluted folds and furrows in a cerebriform pattern. A 4-mm punch-biopsy specimen from the scalp revealed no inflammatory or neoplastic changes. This clinical presentation was consistent with a diagnosis of cutis verticis gyrata, which is an unusual morphologic condition of the scalp characterized by ridges and furrows resembling the brain's surface. No intervention was attempted because the patient had no associated disorders and the condition did not bother him cosmetically. At the 1-year follow-up, there were no changes in the patient's presentation.

Schons KRR, Beber AAC. Cutis Verticis Gyrata. New England Journal of Medicine 2012;367(16):e23. MMS: Error

 

[Michael Scally MD]

Hepatic Failure During Anabolic Steroid [Danazol] Therapy

Question: A 78-year old man was referred to our center because of rapidly worsening liver dysfunction. He was diagnosed as having idiopathic thrombocytopenic purpura at the age of 68, and has been treated with an anabolic steroid, danazol, for nearly 2 years.

On admission, his physical examination was unremarkable except for marked jaundice, appetite loss, and general fatigue. Laboratory studies showed the following: white cell count, 10000/mm3; total bilirubin, 11.7 mg/dL; aspartate aminotransferase, 95 IU/L; alanine aminotransferase, 185 IU/L; alkaline phosphatase, 677 IU/L; and gamma-glutamyl transpeptidase, 2152 IU/L. Viral markers for hepatitis B or hepatitis C were all negative, and serologic tests for autoantibodies were also all negative. He had no history of heavy alcohol consumption.

Abdominal ultrasonography and computed tomography showed no evidence to substantiate a diagnosis of obstructive jaundice or hepatic tumor. However, magnetic resonance imaging (MRI) showed that the both liver lobes have low signal intensity on T1 weighted images (Figure A) and high signal intensity on T2 weighted images (Figure B). After admission, his clinical condition deteriorated rapidly. He received palliative care and died of hepatic failure on hospital day 26.

What is the diagnosis?

Answer: Peliosis Hepatis

At autopsy, the liver weighed 1170 g. Innumerable, irregularly shaped, minute cavities were scattered throughout the liver, and the liver had a sponge-like appearance. Microscopically, multiple cystic cavities filled with blood and sinusoidal dilation was observed. On the basis of a history of anabolic steroid therapy and histologic findings, peliosis hepatis was diagnosed.

Peliosis hepatis is a very rare entity of liver disease, and was first described by Schloenlank in 1916. Although the pathogenesis of peliosis hepatis is not understood well, peliosis hepatis is associated with many diseases (including tuberculosis, AIDS, malignancy, post-transplantation immunodeficiency) and drugs. Notably, anabolic steroids are often associated with the development of peliosis, although the pathogenic role of an anabolic steroid in the occurrence of peliosis is also unclear.

Clinically, peliosis hepatis is asymptomatic, and it is generally difficult to make an early diagnosis of peliosis hepatis. The diagnosis of peliosis hepatis may be suggested by imaging, but radiologic diagnosis remains a challenging and histologic examination of the liver is essential for definite diagnosis. However, MRI may be the preferred imaging modality for a diagnosis of peliosis hepatis, because MRI can show hepatic lesions with increased signal on T1 and T2 weighted images because of the presence of cystic cavities filled with blood. Indeed, in our case, MRI enabled us to make a diagnosis of peliosis hepatis. With regard to treatment, no specific treatments have been identified, except for treatment of the underlying disease or discontinuation of suspected causative agents. However, it is not clear whether withdrawal of causative agents result in reversal of the disease once peliosis was completed.

Peliosis hepatis can be a life-threatening complication of anabolic steroid therapy. Peliosis hepatis should be included in the differential diagnosis when patients receiving anabolic steroid therapy show signs of liver dysfunction.


Kou T, Watanabe M, Yazumi S. Hepatic Failure During Anabolic Steroid Therapy. Gastroenterology. ScienceDirect.com - Gastroenterology - Hepatic Failure During Anabolic Steroid Therapy


FYI: Danazol – DANOCRINE (DANAZOL) CAPSULE [SANOFI-SYNTHELABO INC.]

 

[BBC3]

Sorry, just cant help this one. I DONT THINK THEY SAID WHAT HE WAS BEING TREATED FOR IN THAT PRIMER...?! The only common reason for males would appear to be angioedema. So, is this some form of steroid that bridges the span between non-anabolic anti-inflamatory type AND mild anabolic as well.??

It just seems odd that a doc would keep writing an oral steroid which clearly is similar in liver activity to common Dbol, and yet also appears to have some of the Cortico Steroid negatives as well. The best of both worlds in NASTY it would seem..

The only thing that makes sense about that is the fact that the guy was 78, and who could give a shit really. They might as well have tried adderall, or seroquell for that matter. The saddest truth of all is that this is a prime example of poor common protocal in medical science as to not be more creative and "mix it up" a bit more actively. But really, there has to be some kind of standard of bloodwork that should probably shorten in interval with duration on - one would think.. OR dont call the bastard in any more...

Hepatic Failure During Anabolic Steroid [Danazol] Therapy

Question: A 78-year old man was referred to our center because of rapidly worsening liver dysfunction. He was diagnosed as having idiopathic thrombocytopenic purpura at the age of 68, and has been treated with an anabolic steroid, danazol, for nearly 2 years.

On admission, his physical examination was unremarkable except for marked jaundice, appetite loss, and general fatigue. Laboratory studies showed the following: white cell count, 10000/mm3; total bilirubin, 11.7 mg/dL; aspartate aminotransferase, 95 IU/L; alanine aminotransferase, 185 IU/L; alkaline phosphatase, 677 IU/L; and gamma-glutamyl transpeptidase, 2152 IU/L. Viral markers for hepatitis B or hepatitis C were all negative, and serologic tests for autoantibodies were also all negative. He had no history of heavy alcohol consumption.

Abdominal ultrasonography and computed tomography showed no evidence to substantiate a diagnosis of obstructive jaundice or hepatic tumor. However, magnetic resonance imaging (MRI) showed that the both liver lobes have low signal intensity on T1 weighted images (Figure A) and high signal intensity on T2 weighted images (Figure B). After admission, his clinical condition deteriorated rapidly. He received palliative care and died of hepatic failure on hospital day 26.

What is the diagnosis?

Answer: Peliosis Hepatis

At autopsy, the liver weighed 1170 g. Innumerable, irregularly shaped, minute cavities were scattered throughout the liver, and the liver had a sponge-like appearance. Microscopically, multiple cystic cavities filled with blood and sinusoidal dilation was observed. On the basis of a history of anabolic steroid therapy and histologic findings, peliosis hepatis was diagnosed.

Peliosis hepatis is a very rare entity of liver disease, and was first described by Schloenlank in 1916. Although the pathogenesis of peliosis hepatis is not understood well, peliosis hepatis is associated with many diseases (including tuberculosis, AIDS, malignancy, post-transplantation immunodeficiency) and drugs. Notably, anabolic steroids are often associated with the development of peliosis, although the pathogenic role of an anabolic steroid in the occurrence of peliosis is also unclear.

Clinically, peliosis hepatis is asymptomatic, and it is generally difficult to make an early diagnosis of peliosis hepatis. The diagnosis of peliosis hepatis may be suggested by imaging, but radiologic diagnosis remains a challenging and histologic examination of the liver is essential for definite diagnosis. However, MRI may be the preferred imaging modality for a diagnosis of peliosis hepatis, because MRI can show hepatic lesions with increased signal on T1 and T2 weighted images because of the presence of cystic cavities filled with blood. Indeed, in our case, MRI enabled us to make a diagnosis of peliosis hepatis. With regard to treatment, no specific treatments have been identified, except for treatment of the underlying disease or discontinuation of suspected causative agents. However, it is not clear whether withdrawal of causative agents result in reversal of the disease once peliosis was completed.

Peliosis hepatis can be a life-threatening complication of anabolic steroid therapy. Peliosis hepatis should be included in the differential diagnosis when patients receiving anabolic steroid therapy show signs of liver dysfunction.


Kou T, Watanabe M, Yazumi S. Hepatic Failure During Anabolic Steroid Therapy. Gastroenterology. ScienceDirect.com - Gastroenterology - Hepatic Failure During Anabolic Steroid Therapy


FYI: Danazol – DANOCRINE (DANAZOL) CAPSULE [SANOFI-SYNTHELABO INC.]

 

[Michael Scally MD]

Idiopathic Thrombocytopenic Purpura:

he was diagnosed as having idiopathic thrombocytopenic purpura at the age of 68, and has been treated with an anabolic steroid, danazol, for nearly 2 years.

 

[Michael Scally MD]

Evans LJ. Thoracolumbar Fracture with Preservation of Neurologic Function. New England Journal of Medicine 2012;367(20):1939. MMS: Error

A 44-year-old man presented to the emergency department with severe pain after an accident at the gym. He reported he had been doing squats while balancing a 200-kg bar across his trapezius. His knee gave way and he fell to the floor, with the weight landing on his lower back. The patient managed to crawl out from under the weight but did not attempt to walk.

On arrival at the emergency department he had full power in both lower limbs and normal sensation to light touch in all dermatomes of the lower limbs. The area over vertebral bodies T11 through L2 was exquisitely tender. Initial frontal and lateral plain films (Panels A and B, respectively) and an axial computed tomographic study of the area from T12 through L1 (Panel C) showed fracture–dislocation.

The patient was taken to the operating room that night for open reduction and internal fixation of the fracture–dislocation of vertebral bodies T12 through L1. Postoperatively, he had preservation of normal neurologic function, with the exception of mild paresthesia on both sides of his trunk in a T12 dermatomal distribution.

 

[Michael Scally MD]

Chamoun R, Layfield L, Couldwell WT. Gonadotroph Adenoma with Secondary Hypersecretion of Testosterone. World Neurosurg. ScienceDirect.com - World Neurosurgery - Gonadotroph Adenoma with Secondary Hypersecretion of Testosterone

OBJECTIVE: Gonadotroph pituitary adenomas are common, but the overwhelming majority are classified as non-functioning adenomas. Approximately one-third secrete follicle-stimulating hormone (FSH) and/or luteinizing hormone (LH), resulting in an increase in serum levels; however, the sex hormone levels are typically not elevated and the secreted gonadotropin hormones are thought to be biologically inactive. Rarely, gonadotroph adenomas induce an ovarian hyperstimulation syndrome in females. In males, an increase in testosterone level is even more rare. The authors report the case of a male patient with a gonadotroph pituitary adenoma causing hypersecretion of testosterone and review the medical literature.

CASE REPORT: A 45-year-old man had progressive bilateral visual loss over a 4-year period. Bitemporal hemianopsia was diagnosed by an ophthalmologist, but no other symptoms were reported. Neurosurgical evaluation was otherwise normal. MRI of the brain showed a large enhancing sellar and suprasellar tumor consistent with pituitary macroadenoma. Levels of FSH, LH, alpha subunit, testosterone, free testosterone, and prolactin were elevated. The patient underwent transsphenoidal resection of the pituitary tumor. Pathological analysis confirmed the diagnosis of pituitary adenoma, and immunohistochemistry demonstrated a population of cells with cytoplasmic staining for FSH but not for LH. The postoperative hormonal profile showed normalization of FSH and low LH, testosterone, morning cortisol level, and free thyroxine. The patient was treated with levothyroxine and hydrocortisone therapy for replacement. His vision subjectively improved, with formal visual testing follow-up to monitor the degree of improvement.

CONCLUSIONS: Gonadotroph adenomas are considered a type of non-functioning pituitary tumors, since the commonly associated increase in serum FSH and LH does not typically result in elevated sex hormone level. Herein, we report a rare case of high testosterone level caused by a gonadotroph adenoma successfully treated with transsphenoidal resection. Interestingly, in adult males the increase in sex hormones does not seem to lead to a recognizable clinical syndrome, and the clinical presentation remains similar to that of non-functioning adenomas.

 

[Michael Scally MD]

Unlocking the value of medical case reports: BioMed Central launches Cases Database
BioMed Central | Unlocking the value of medical case reports: BioMed Central launches Cases Database

BioMed Central the open access publisher today announced the launch of a valuable new medical resource, Cases Database - Home - BMC Cases Database. Cases Database is a freely accessible and continuously updated tool, developed by BioMed Central, which allows clinicians, researchers, teachers and patients to explore thousands of peer-reviewed medical case reports from multiple journal publishers, including BioMed Central, Springer and BMJ Group.

 

[Michael Scally MD]

Hypogonadism with Two Novel Mutations of the Luteinizing Hormone ?-Subunit Gene Expressed in a Compound Heterozygous Form

A 31-yr-old, 46,XY man was referred for investigation of sexual infantilism. He was 182 cm tall, weighed 89 kg, had an arm span of 187 cm, and his waist circumference was 108 cm. He was phenotypically male at birth, with descended testes. He had bilateral gynecomastia, scant normally distributed pubic and axillary hair (Tanner stage 2), and a juvenile voice. Penile length was 4 cm, and testicular volume was 8 ml.

The LH level was not detectable; FSH was normal; testosterone, ACTH, and estradiol levels were low; and inhibin B, prolactin, IGF-I, cortisol, and TSH were normal. After iv administration of GnRH (100 ?g), the patient's level of FSH rose from 8.7 to 10.7 mIU/ml at 60 min, whereas LH remained undetectable. Serum testosterone increased after 5000 IU human chorionic gonadotropin administration from 0.49 to 4.32 ng/ml. The patient had azoospermia with low semen volume (0.2 ml). Magnetic resonance imaging of the brain and pituitary gland showed no abnormalities.

A diagnosis of hypogonadism due to selective LH deficiency was made. Treatment with im testosterone (250 mg every 3 wk) (Sustanon; Organon, Roseland, NJ) was initiated. Over a 6-month period, the testosterone induced virilization, penile growth to 8 cm in length, and an increase in testicular volume to 18 ml. During testosterone replacement therapy, the plasma levels of testosterone and 17?-estradiol increased, reaching the normal adult range (5.8 ± 1.0 ng/ml and 30 ± 1 pg/ml, respectively; mean ± SD of four determinations), LH remained undetectable. All the other hormones, assayed on three to four occasions, were within the normal range.

The treatment with testosterone was discontinued because of worsening of gynecomastia, and the therapy was shifted to chorionic gonadotropin 2000 IU three times a week (Gonasi HP; Amsa, Como, Italy). Although the treatment was irregular because of poor adherence, after 12 months the testicular volume was 18.6 ml, testosterone secretion was maintained within the normal adult range (4.92 ± 0.98 ng/ml; mean ± SD of six determinations), and the patient became oligospermic (0.38 × 106spermatozoa per ejaculate; semen volume, 0.38 ml), although the spermatozoa predominantly had abnormal shape and motility. All the other hormones studied were within the adult normal range except for LH, which remained undetectable.

In response to the administration of chorionic gonadotropin, the patient had a further increase in testicular volume and an enhanced production of testosterone, suggesting that the few Leydig cells observed in the testicular biopsy, although reduced in number and size, remained capable of steroidogenesis. Furthermore, the therapy with chorionic gonadotropin allowed for some spermatogenesis to take place. Thus, the absence of exposure to endogenous LH only partially altered the subsequent capacity for spermatogenesis. This treatment success improved the quality of life of the patient substantially.

This report expands the understanding of the genetics of hypogonadism and the knowledge of the mutation spectrum in isolated hypogonadotropic hypogonadism. Both affected siblings were compound heterozygous, whereas their unaffected parents were heterozygous and had a normal phenotype. This indicates that one copy of the LH ?-subunit gene is sufficient for normal LH secretion and function of the gonadotropic axis, ruling out haploinsufficiency. In conclusion, the LH ?-subunit mutations reported here are probably rare; however, they should be considered in girls with oligomenorrhea and boys with delayed puberty and selective deficiency of LH.


Basciani S, Watanabe M, Mariani S, et al. Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone ?-Subunit Gene Expressed in a Compound Heterozygous Form. Journal of Clinical Endocrinology & Metabolism 2012;97(9):3031-8. http://jcem.endojournals.org/content/97/9/3031.abstract (Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone ?-Subunit Gene Expressed in a Compound Heterozygous Form)

Context: LH gene mutations are rare; only four mutations have been described. The affected individuals are hypogonadal.

Patient: We describe the clinical features of a 31-yr-old man who presented with delayed puberty and azoospermia and was found to have hypogonadism associated with an absence of circulating LH.

Main Outcome Measures and Results: The patient had a 12-bp deletion in exon 2 in the LH?-subunit gene and a mutation of the 5? splice site IVS2+1G?T in the same gene present in a compound heterozygous state. The first mutation predicts a deletion of four leucines of the hydrophobic core of the signal peptide. The second mutation disrupts the splicing of mRNA, generating a gross abnormality in the processing. The patient's heterozygous parents were clinically normal. The phenotype of a 16-yr-old sister of the proband, carrying the same mutations, was characterized by normal pubertal development and oligomenorrhea.

Conclusion: This report unravels two novel mutations of the LH gene critical for synthesis and activity of the LH molecule. The insight gained from the study is that normal pubertal maturation in women can occur in a state of LH deficiency, whereas LH is essential for maturation of Leydig cells and thus steroidogenesis, puberty, and spermatogenesis in man. These mutations should be considered in girls and boys with selective deficiency of LH.

 

[Michael Scally MD]

Dermal Swellings and Ocular Injury after Exposure to Reindeer


Hypoderma tarandi, a bumblebee-like fly that is common in subarctic regions, attaches eggs onto the hair of reindeer (also called caribou; Rangifer tarandus). Larvae hatch, penetrate the skin, and mature, leaving the host through holes in the skin in the spring. Among 12 human cases of myiasis caused by H. tarandi reported since 1980, a total of 8 patients had ophthalmomyiasis. We describe myiasis in 5 children who had visited reindeer herding areas in Norway or Sweden for 5 to 17 days during the months of July and August between 2008 and 2010.

Four children observed reindeer, but none of them remembered being attacked by a fly. Enlargement of occipital lymph nodes and migratory 2-to-5-cm dermal swellings appeared 15 days to 3 months (median, 45 days) after the children were exposed to reindeer. Swellings occurred one at a time, persisted for 1 to 3 days, and reappeared after 2 to 34 days. Symptoms developed 3 months apart in two siblings, despite their exposure during the same 5-day trip. Ophthalmomyiasis developed in two children 1 and 4 months after the first symptoms. One child lost vision in the affected eye.

A single living larva, extracted from one eye of each child, was identified asH. tarandi according to its morphologic features or sequencing of mitochondrion target sequences used for hypodermae bar-coding analysis. The diagnosis was confirmed in all patients by assaying serum samples for antibodies against hypodermin C, an enzyme released by the larvae during migration in the host. Eggs on scalp hairs of one child were identified morphologically as H. tarandi. Ultrasonographic examination of swellings revealed 1-to-4-mm subdermal structures in three patients. Infestation with at least two larvae was suspected in two patients.

Ivermectin was administered in single doses of 200 to 350 ?g per kilogram of body weight on three occasions (in one patient) and five occasions (in three patients) when new swellings occurred. Five treatments of ivermectin were administered after eye surgery in one child because swellings recurred on four occasions, indicating residual larvae. Ophthalmomyiasis did not develop in the three other children who received ivermectin for dermal swellings.

Ivermectin was chosen as adjunctive therapy in our patients, since there is substantial experience with its use in humans and it is considered effective against H. tarandi larvae in reindeer. Myiasis due to H. tarandi should be considered in patients presenting with migratory dermal swelling if they recently had visited an area frequented by reindeer.


Kan B, Otranto D, Fossen K, Asbakk K. Dermal Swellings and Ocular Injury after Exposure to Reindeer. New England Journal of Medicine 2012;367(25):2456-7. MMS: Error


Migratory Swellings in a Patient with Myiasis after Exposure to Reindeer.
Panel A shows the first swelling (arrow) on the patient's forehead before treatment. Panel B shows ocular swelling, and Panel C shows a firm nodule on the eyelid. In all four children treated with ivermectin, the swellings transformed into firm nodules, probably because of a “foreign-body” reaction against the dead larva.

 

[Michael Scally MD]

Large Right Inguinal Hernia

Parvanescu H. Large Right Inguinal Hernia. New England Journal of Medicine 2013;368(2):171. MMS: Error

A 67-year-old man presented with a large right inguinal mass that had progressed in size for 25 years. Eighteen years earlier, he had been hospitalized in a general surgery clinic with an inguinal hernia but declined surgical repair because of concern about the complications associated with the procedure. He returned to the clinic after an 8-day period of constipation. On examination, a hernia, 55 cm in length and 30 cm in width, was noted to reach the level of the knees (Panels A and B). The size of the mass suggested that the patient was at risk for intestinal obstruction, intestinal bleeding, and volvulus. Surgical correction was offered, but because of the risks, including bleeding, intestinal perforation, and failed healing of the abdominal wall, he elected conservative medical management, which included a high-fiber diet and the use of laxatives and enemas. He was subsequently lost to follow-up.

 

[idmd]

Holy shit that thing scared me!

 

[BBC3]

If thats a NUT GONE WILD - I have to wonder does the pleasure increase with size cause I'd be polishing that bastard all day long and never leave the house either. And we wonder the REAL reason he doesnt want it removed... LOL

Oh well, I guess he could just do what Steven Segal does when he gets overweight, and put on a robe with a fancy design so that he can wear it in public.

Pop..! Suprise baby...![)]