Browse

You are looking at 1 - 10 of 55 items for :

  • Patient Demographics x
  • Unique/unexpected symptoms or presentations of a disease x
  • Publication Details x
  • Adolescent/young adult x
Clear All
Emma Towslee Cottage Children’s Medical Center, Santa Barbara, California, USA

Search for other papers by Emma Towslee in
Google Scholar
PubMed
Close
,
Adrienne Macdonald Cottage Children’s Medical Center, Santa Barbara, California, USA

Search for other papers by Adrienne Macdonald in
Google Scholar
PubMed
Close
, and
Zohreh Shoar Cottage Children’s Medical Center, Santa Barbara, California, USA

Search for other papers by Zohreh Shoar in
Google Scholar
PubMed
Close

Summary

A previously healthy 17-year-old female presented to the emergency department with complaints of vomiting, shortness of breath, and tachycardia. She was found to have an elevated blood glucose and was admitted for presumed new onset type 1 diabetes mellitus (T1DM). During the admission, she was noted to have frequent episodes of hypoglycemia despite conservative insulin dosing and high urine output with glucosuria, which seemed out of proportion to her glucose levels and fluid status. She also had persistent hyponatremia despite normalization of blood glucose. Further work-up was initiated to investigate alternative or additional diagnoses to explain these atypical findings. Adrenocorticotropic hormone (ACTH) level was elevated, consistent with the diagnosis of Addison’s disease, which led to the subsequent diagnosis of autoimmune polyglandular syndrome type II (APS-2). This is one of the first reports in the literature of concurrent diagnosis of T1DM and Addison’s disease at initial presentation and demonstrates the importance of not anchoring to one diagnosis.

Learning points

  • This case shows the importance of considering multiple diagnoses and investigating atypical signs and symptoms.

  • This case highlights the importance of a thorough history including review of systems.

  • Hyponatremia and recurrent hypoglycemia in a person with type 1 diabetes should raise suspicion for adrenal insufficiency.

  • This case makes us consider the screening for Addison’s disease in a person with new onset type 1 diabetes in addition to autoimmune thyroid disease and celiac disease.

  • People with an autoimmune disease should be monitored for other autoimmune diseases in the future.

Open access
Stephanie Patrick Division of Endocrinology, Department of Medicine, The University of Tennessee, Memphis, Tennessee, USA

Search for other papers by Stephanie Patrick in
Google Scholar
PubMed
Close
and
Deirdre James Division of Endocrinology, Department of Medicine, The University of Tennessee, Memphis, Tennessee, USA

Search for other papers by Deirdre James in
Google Scholar
PubMed
Close

Summary

Thyroid cancer is one of the most common manifestations of Cowden syndrome, yet the syndrome is rare. The incidence of Cowden syndrome is 1 in 200,000. The diagnosis can be made clinically when patients present with a combination of symptoms such as mucocutaneous lesions with a strong personal or family history of thyroid, breast, endometrial, and colorectal cancer. A high index of suspicion is required to provide a clinical diagnosis utilizing major and minor criteria. Once a clinical diagnosis is made, genetic testing for a PTEN mutation, a tumor suppressor gene, is recommended. Cancer surveillance should be performed for those with positive genetic testing as well as those with negative genetic testing who still meet clinical diagnostic criteria. We present two cases of Cowden syndrome: one case involving an increasing number of thyroid nodules in a patient with known Cowden syndrome and another patient with a strong family history of cancer, personal history of follicular thyroid cancer, and numerous colonic polyps on screening colonoscopy. These cases demonstrate how early diagnosis of Cowden syndrome can help detect early cancer in both the patient and affected relatives.

Learning points

  • Diagnosing Cowden syndrome helps pre-risk stratification for early cancer screening.

  • The diagnosis of Cowden syndrome can be made with a combination of major and minor criteria: any two major criteria with or without a minor criterion; one major and one minor criterion; or three minor criteria.

  • Patients who meet the diagnostic criteria for Cowden syndrome should undergo genetic screening.

Open access
S Chew Sue Mei Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

Search for other papers by S Chew Sue Mei in
Google Scholar
PubMed
Close
,
N Pritchard Department of Renal Medicine, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

Search for other papers by N Pritchard in
Google Scholar
PubMed
Close
,
H Grayton Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Search for other papers by H Grayton in
Google Scholar
PubMed
Close
,
I Simonicova Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Search for other papers by I Simonicova in
Google Scholar
PubMed
Close
,
S M Park Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Search for other papers by S M Park in
Google Scholar
PubMed
Close
, and
A I Adler Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK
University of Oxford Diabetes Trials Unit, Oxford, UK

Search for other papers by A I Adler in
Google Scholar
PubMed
Close

Summary

Kabuki syndrome is a genetic disorder characterised by distinctive facial features, developmental delays, and multisystem congenital anomalies. Endocrine complications such as premature thelarche and short stature are common, whereas disorders of glycaemic control are less frequent. We describe a 23-year-old white female referred to the diabetes clinic for hyperglycaemia during haemodialysis. She was subsequently diagnosed with Kabuki syndrome based on characteristic clinical features, confirmed by detecting a heterozygous pathogenic variant in KMT2D. She was known to have had multiple congenital anomalies at birth, including complex congenital heart disease and a single dysplastic ectopic kidney, and received a cadaveric transplanted kidney at the age of 13. She had hyperglycaemia consistent with post-transplant diabetes mellitus (DM) and was started on insulin. Examination at the time revealed truncal obesity. She developed acute graft rejection and graft failure 14 months post-transplant and she was started on haemodialysis. Her blood glucose levels normalised post-graft explant, but she was hyperglycaemic again during haemodialysis at the age of 23. Given her clinical phenotype, negative diabetes antibodies and normal pancreas on ultrasound, she was assumed to have type 2 DM and achieved good glycaemic control with gliclazide.

Learning points

  • Involve clinical genetics early in the investigative pathway of sick neonates born with multiple congenital anomalies to establish a diagnosis to direct medical care.

  • Consider the possibility of Kabuki syndrome (KS) in the differential diagnoses in any neonate with normal karyotyping or microarray analysis and with multiple congenital anomalies (especially cardiac, renal, or skeletal), dysmorphic facial features, transient neonatal hypoglycaemia and failure to thrive.

  • Consider the possibility of diabetes as an endocrine complication in KS patients who are obese or who have autoimmune disorders.

Open access
Gaayathri Krishnan Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

Search for other papers by Gaayathri Krishnan in
Google Scholar
PubMed
Close
,
Nur Hidayah Mohd Makhatar Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

Search for other papers by Nur Hidayah Mohd Makhatar in
Google Scholar
PubMed
Close
,
Tee Hwee Ching Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

Search for other papers by Tee Hwee Ching in
Google Scholar
PubMed
Close
, and
Serena Khoo Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

Search for other papers by Serena Khoo in
Google Scholar
PubMed
Close

Summary

Pituitary tuberculoma is extremely rare and may pose as a diagnostic challenge especially when encountered as an isolated lesion without other systemic manifestation of tuberculosis. A 21-year-old female was admitted for diabetic ketoacidosis. On the third day of admission following the resolution of diabetic ketoacidosis she developed a sudden onset of headache and blurring of vision suggestive of pituitary apoplexy. An urgent MRI brain revealed a large sellar mass with erosion into the sphenoid sinus and intracranial vasculitis. Transphenoidal surgery was done for tumour debulking which allowed histopathological examination of the sellar mass. Immunohistochemical examination of the sellar mass was positive for Gene Xpert MTB/Rif suggesting a tuberculoma. Anti-tuberculous therapy was commenced with full recovery of pituitary hormonal profile seen 7 months post-treatment. In regions with a high incidence of tuberculosis, a tuberculoma should be a considered in a diagnostic evaluation of a sellar lesion.

Learning points

  • In an endemic area of tuberculosis, tuberculoma should be considered as a differential diagnosis when evaluating sellar lesions.

  • Pituitary tuberculoma can present with pituitary apoplexy-like symptoms.

  • Prompt diagnosis and treatment may lead to recovery of pituitary function.

Open access
Osamu Horikawa Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

Search for other papers by Osamu Horikawa in
Google Scholar
PubMed
Close
,
Satoshi Ugi Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan
Department of Medicine, Omihachiman Community Medical Center, Omihachiman, Shiga, Japan

Search for other papers by Satoshi Ugi in
Google Scholar
PubMed
Close
,
Tomofumi Takayoshi Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan

Search for other papers by Tomofumi Takayoshi in
Google Scholar
PubMed
Close
,
Yasushi Omura Department of Internal Medicine, Kohka Public Hospital, Kohka, Shiga, Japan

Search for other papers by Yasushi Omura in
Google Scholar
PubMed
Close
,
Maya Yonishi Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

Search for other papers by Maya Yonishi in
Google Scholar
PubMed
Close
,
Daisuke Sato Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

Search for other papers by Daisuke Sato in
Google Scholar
PubMed
Close
,
Yukihiro Fujita Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

Search for other papers by Yukihiro Fujita in
Google Scholar
PubMed
Close
,
Tomoya Fuke Department of Medicine, Saiseikai Shiga Hospital, Ritto, Shiga, Japan

Search for other papers by Tomoya Fuke in
Google Scholar
PubMed
Close
,
Yushi Hirota Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan

Search for other papers by Yushi Hirota in
Google Scholar
PubMed
Close
,
Wataru Ogawa Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan

Search for other papers by Wataru Ogawa in
Google Scholar
PubMed
Close
, and
Hiroshi Maegawa Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

Search for other papers by Hiroshi Maegawa in
Google Scholar
PubMed
Close

Summary

A 17-year-old boy was referred to our endocrinology clinic for a clinical investigation of hyperinsulinemia. An oral glucose tolerance test showed plasma glucose concentrations in the normal range. However, insulin concentrations were considerably elevated (0 min: 71 μU/mL; 60 min: 953 μU/mL), suggesting severe insulin resistance. An insulin tolerance test confirmed that he had insulin resistance. There was no apparent hormonal or metabolic cause, including obesity. The patient had no outward features of hyperinsulinemia, including acanthosis nigricans or hirsutism. However, his mother and grandfather also had hyperinsulinemia. Genetic testing showed that the patient (proband), his mother, and his grandfather had a novel p.Val1086del heterozygous mutation in exon 17 of the insulin receptor gene (INSR). Although all three family members have the same mutation, their clinical courses have been different. The onset of the mother’s diabetes was estimated at 50 years, whereas the grandfather developed diabetes at 77 years.

Learning points

  • Type A insulin resistance syndrome is caused by mutations in the insulin receptor (INSR) gene and results in severe insulin resistance.

  • Genetic evaluation should be considered in adolescents or young adults with dysglycemia when an atypical phenotype, such as severe insulin resistance, or a relevant family history is observed.

  • Clinical courses may differ even if the same genetic mutation is found in a family.

Open access
Micah A Fischer Department of Pediatrics, University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, Nebraska, USA

Search for other papers by Micah A Fischer in
Google Scholar
PubMed
Close
,
Ghada A Elmahmudi Department of Holland Regenerative Medicine Program, University of Nebraska Medical Center, Omaha, Nebraska, USA

Search for other papers by Ghada A Elmahmudi in
Google Scholar
PubMed
Close
,
Bracha K Goldsweig Division of Pediatric Endocrinology, University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, Nebraska, USA

Search for other papers by Bracha K Goldsweig in
Google Scholar
PubMed
Close
, and
Salaheddin H Elrokhsi Division of Pediatric Endocrinology, University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, Nebraska, USA

Search for other papers by Salaheddin H Elrokhsi in
Google Scholar
PubMed
Close

Summary

Multiple research studies address the anti-insulinemic effect of growth hormone (GH). We report a case of a patient with anterior hypopituitarism on GH replacement who later developed type 1 diabetes mellitus (T1DM). Recombinant human growth hormone (rhGH) therapy was discontinued at the time of growth completion. Because of significantly improved glycemic control, this patient was weaned off subcutaneous insulin. He regressed from stage 3 to stage 2 T1DM and remained in this status for at least 2 years and until the writing of this paper. The diagnosis of T1DM was established based on relatively low C-peptide and insulin levels for the degree of hyperglycemia as well as seropositivity of zinc transporter antibody and islet antigen-2 antibody. Additional laboratory data obtained 2 months after discontinuing rhGH revealed improved endogenous insulin secretion. This case report calls attention to the diabetogenic effect of GH therapy in the setting of T1DM. It also demonstrates the possibility of regression from stage 3 T1DM requiring insulin therapy to stage 2 T1DM with asymptomatic dysglycemia after discontinuing rhGH.

Learning points

  • Given the diabetogenic effect of growth hormone, blood glucose levels should be monitored in patients with type 1 diabetes mellitus (T1DM) on insulin therapy and recombinant human growth hormone (rhGH) replacement.

  • Clinicians should closely monitor for risk of hypoglycemia after discontinuing rhGH among T1DM patients who are on insulin treatment.

  • The discontinuation of rhGH in the setting of T1DM may cause regression of symptomatic T1DM to asymptomatic dysglycemia requiring no insulin treatment.

Open access
Christine Hvolby Amanoal Department of Internal Medicine, Viborg Regional Hospital, Denmark

Search for other papers by Christine Hvolby Amanoal in
Google Scholar
PubMed
Close
,
Lene Kongsgaard Nielsen Department of Internal Medicine, Viborg Regional Hospital, Denmark
Research Unit for Multimorbidity, Viborg Regional Hospital, Denmark

Search for other papers by Lene Kongsgaard Nielsen in
Google Scholar
PubMed
Close
, and
Henrik Holm Thomsen Department of Internal Medicine, Viborg Regional Hospital, Denmark
Research Unit for Multimorbidity, Viborg Regional Hospital, Denmark
Department of Clinical Medicine, Aarhus University, Denmark

Search for other papers by Henrik Holm Thomsen in
Google Scholar
PubMed
Close

Summary

Iron metabolism and markers hereof are altered in anorexia nervosa (AN) but far from completely understood. We report a case of extreme hyperferritinemia in a patient with AN and discuss the possible mechanisms and current knowledge about the association between hyperferritinemia and AN. A 20-year-old woman with a history of AN presented with bradycardia, weariness, and malaise in addition to an incidentally very high ferritin level. The symptoms disappeared spontaneously after a short admission. There were no signs suggestive of systemic, hematological, or malignant disease causing the very high concentration of ferritin. Her body weight was in decline, leading up to admission, but did initially increase after discharge accompanied by declining ferritin concentration. However, a clear association between ferritin dynamics and weight changes or physical activity was not identified and neither were other causes of the hyperferritinemia. Around one in four patients with AN have increased ferritin concentrations. Our case represents the highest ferritin concentration reported in a patient with AN without other underlying causes or comorbidities.

Learning points

  • Perturbed iron metabolism is frequent in restrictive type anorexia nervosa but incompletely understood.

  • Altered ferritin in anorexia nervosa may be linked to nutritional status.

Open access
David Lin Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA

Search for other papers by David Lin in
Google Scholar
PubMed
Close
,
Jai Madhok Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA

Search for other papers by Jai Madhok in
Google Scholar
PubMed
Close
,
Jason Bouhenguel Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA

Search for other papers by Jason Bouhenguel in
Google Scholar
PubMed
Close
, and
Frederick Mihm Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA

Search for other papers by Frederick Mihm in
Google Scholar
PubMed
Close

Summary

We describe a case of a 47-year-old patient who presented with severe lactic acidosis, troponinemia, and acute kidney injury after receiving 8 mg of intramuscular dexamethasone for seasonal allergies in the setting of an undiagnosed epinephrine-secreting pheochromocytoma. This case was atypical, however, in that the patient exhibited only mildly elevated noninvasive measured blood pressures. Following a period of alpha-adrenergic blockade, the tumor was resected successfully. Steroid administration can precipitate pheochromocytoma crisis that may present unusually as in our patient with mild hypertension but profound lactic acidosis.

Learning points

  • Steroids administered via any route can precipitate pheochromocytoma crisis, manifested by excessive catecholamine secretion and associated sequelae from vasoconstriction.

  • Lack of moderate/severe hypertension on presentation detracts from consideration of pheochromocytoma as a diagnosis.

  • Lactatemia after steroid administration should prompt work-up for pheochromocytoma, as it can be seen in epinephrine-secreting tumors.

  • Noninvasive blood pressure measurements may be unreliable during pheochromocytoma crisis due to excessive peripheral vasoconstriction.

Open access
Matthew J Verheyden Department of Diabetes, Metabolism and Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Search for other papers by Matthew J Verheyden in
Google Scholar
PubMed
Close
,
Natassia Rodrigo Department of Diabetes, Metabolism and Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
Department of Diabetes and Endocrinology, Nepean Hospital, Kingswood, New South Wales, Australia

Search for other papers by Natassia Rodrigo in
Google Scholar
PubMed
Close
,
Anthony J Gill Cancer Diagnosis and Pathology Group, Kolling Institute, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales, Australia

Search for other papers by Anthony J Gill in
Google Scholar
PubMed
Close
, and
Sarah J Glastras Department of Diabetes, Metabolism and Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Search for other papers by Sarah J Glastras in
Google Scholar
PubMed
Close

Summary

Necrobiosis lipoidica (NL) is a rare and chronic disease characterised by yellow-brown, atrophic, telangiectatic plaques usually located on the lower extremities, with pathological features of collagen necrobiosis and dermal inflammation. Most cases are seen in those with diabetes mellitus, particularly type 1 diabetes (T1DM), and many without diabetes have evidence of abnormal glucose tolerance or family history of autoimmune disease. In this study, we describe four patients with NL and T1DM. A common theme is late identification and delay in diagnosis. Hence, we discuss the clinical features, need for clinicopathological correlation, and the management and prognostic implications for this distinctive entity. While most remain relatively asymptomatic, others progress to debilitating disease with pruritus, dysesthesia, and pain. Pain is often intense in the presence of ulcerated plaques, a morbid complication of NL. Diagnosis requires the integration of both clinical and histopathological findings. NL has proven a challenging condition to treat, and despite the numerous therapeutic modalities available, there is no standard of care. Hence, in this study, we provide an overview of current management strategies available for NL.

Learning points

  • Necrobiosis lipoidica (NL) is classically seen in patients with type 1 diabetes.

  • Koebner phenomenon, defined as the appearance of new skin lesions on previously unaffected skin secondary to trauma, is a well-recognised feature in NL.

  • Background skin phototype contributes to variable yellow appearance of lesions in NL.

  • Diagnosis of NL requires careful clinicopathological correlation.

  • NL is a chronic disease often refractory to treatment leading to significant morbidity for the patient and a management conundrum for the multidisciplinary healthcare team.

  • No standard therapeutic regimen has been established for the management of NL.

Open access
Carolina Chaves Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo de Ponta Delgada, EPER, Azores Islands, Portugal

Search for other papers by Carolina Chaves in
Google Scholar
PubMed
Close
,
Teresa Kay Department of Medical Genetics, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisbon, Portugal

Search for other papers by Teresa Kay in
Google Scholar
PubMed
Close
, and
João Anselmo Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo de Ponta Delgada, EPER, Azores Islands, Portugal

Search for other papers by João Anselmo in
Google Scholar
PubMed
Close

Summary

Leptin is secreted by adipocytes in response to fat storage and binds to its receptor (LEPR), which is ubiquitously expressed throughout the body. Leptin regulates energy expenditure and is anorexigenic. In this study, we describe the clinical and hormonal findings of three siblings with a personal history of rapid weight gain during the first months of life. They had delayed puberty, high levels of FSH (15.6 ± 3.7 mUI/mL; reference: 1.5–12.4) and LH (12.3 ± 2.2 mUI/mL; reference: 1.7–8.6), normal oestradiol and total testosterone and successful fertility. None of the patients had dyslipidemia, diabetes or thyroid disease. Next-generation sequencing identified a pathogenic homozygous variant c.2357T>C, p.(Leu786Pro) in LEPR. Their parents and children were heterozygous for this mutation. We compared clinical and biochemical findings of homozygous carriers with first-degree heterozygous family members and ten randomly selected patients with adult-onset morbid obesity. Homozygous carriers of the mutation had significantly higher BMI (32.2 ± 1.7 kg/m2 vs 44.5 ± 7.1 kg/m2, P = 0.023) and increased serum levels of leptin (26.3 ± 9.3 ng/mL vs 80 ± 36.4 ng/mL, P = 0.028) than their heterozygous relatives. Compared with the ten patients with adult-onset morbid obesity, serum levels of leptin were not significantly higher in homozygous carriers (53.8 ± 24.1 ng/mL vs 80 ± 36.4 ng/mL, P = 0.149), and thus serum levels of leptin were not a useful discriminative marker of LEPR mutations. We described a rare three-generation family with monogenic obesity due to a mutation in LEPR. Patients with early onset obesity should be considered for genetic screening, as the identification of mutations may allow personalized treatment options (e.g. MC4R-agonists) and targeted successful weight loss.

Learning points

  • The early diagnosis of monogenic forms of obesity can be of great interest since new treatments for these conditions are becoming available.

  • Since BMI and leptin levels in patients with leptin receptor mutations are not significantly different from those found in randomly selected morbid obese patients, a careful medical history is mandatory to suspect this condition.

  • Loss of leptin receptor function has been associated with infertility. However, our patients were able to conceive, emphasizing the need for genetic counselling in affected patients with this condition.

Open access