hrp0082p3-d3-655 | Autoimmune Endocrine Disease | ESPE2014

A Conservative Approach to the Management of Endocrine Neoplasia in Carney Complex in an Adolescent Male

Frerichs Carley , Didi Mohammed , Abernethy Laurence , Kenny Simon , Ellis Ian , Blair Joanne

Background: Carney complex (CC) is a rare, dominantly inherited condition due to mutations of the tumour suppressor gene PRKAR1A. Endocrine manifestations include: Cushing’s syndrome (CS) due to primary pigmented nodular adrenocortical disease, pituitary adenomas, testicular neoplasms, thyroid tumours, and ovarian cysts. The management of some of these tumours is controversial.Objective and hypotheses: To describe conservative management of CC.<...

hrp0082p2-d1-287 | Bone | ESPE2014

Case report: A Novel mutation in the Calcium Sensing Receptor in a Welsh Family with Hypercalcaemia

Soni Astha , Frerichs Carley , Ramakrishnan Renuka , Dharmaraj Poonam

Background: Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder due to inactivating mutations in the calcium sensing receptor (CASR). FHH is generally benign with asymptomatic hypercalcaemia, low urinary calcium excretion and normal or mildly elevated PTH.Objective and hypotheses: We report a novel mutation in CASR in a family with three generations affected with hypercalcaemia.Method: A 15 -month-old boy ...

hrp0082p2-d3-510 | Perinatal and Neonatal Endocrinology | ESPE2014

Neonates with Acute Kidney Injury Continue to be at Risk of Iatrogenic Iodine Toxicity and Hypothyroidism with Attendant Risk to the Developing Brain

Frerichs Carley , Holt Richard , Morgan Henry , Jones Caroline , Didi Mohammed

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...

hrp0082p3-d2-682 | Bone (1) | ESPE2014

Cautionary Tales in the Management of Transient Neonatal Hypoparathyroidism

Mulvey Ian Robert , Frerichs Carley , Dharmaraj Poonam , Ramakrishnan Renuka

Background: Transient hypoparathyroidism is a recognised cause of hypocalcaemia during the neonatal period and difficult to differentiate from permanent forms.Objective and hypotheses: We present the challenges of monitoring and managing neonates with hypocalcaemia and inappropriately low PTH.Method: Cases 1 and 2 had congenital heart disease (CHD) but were FISH negative for 22q11 deletion. Both were treated with supplemental doses...

hrp0086p1-p371 | Gonads &amp; DSD P1 | ESPE2016

Androgen Profile Differs to Adults in Adolescent Girls with Polycystic Ovary Syndrome

Frerichs Carley , Das Urmi , Garden Ann , Williams Cara , Dharmaraj Poonam , Didi Mohammed , Ramakrishnan Renuka , Blair Jo

Background: Diagnostic criteria for polycystic ovarian syndrome (PCOS) are well established in the adult population, but may not be appropriate for adolescent girls. Clinical and/or biochemical hyperandrogenism is one important diagnostic criterion. Screening for hyperandrogenism is often restricted to measurements of testosterone in adult practice. It was our impression that this strategy would under-diagnose PCOS in our adolescent population.Objective ...

hrp0086p1-p828 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Study of Bone Health Index (BHI) in Girls with Turners Syndrome

Frerichs Carley , Jenkinson Carly , Povall Anne , Abernethy Laurence , Das Urmi , Ramakrishnan Renuka , Senniappan Senthil , Didi Mohammed , Blair Jo

Background: Turners Syndrome (TS) is associated with osteoporosis in later life. ‘BoneXpert’ has enabled the automated assessment of bone age (BA) and Bone Health Index (BHI). Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry and peripheral quantitative computed CT measurements are reported. BoneXpert produces a standard deviation score for BHI (BHI-SD) relative to a healthy cohort of children according to BA.Object...

hrp0097p2-193 | Adrenals and HPA Axis | ESPE2023

Patient with Carney complex syndrome due to PRKAR1A mutation.

Ioannis-Anargyros Vasilakis , Barouti Konstantina , Sertedaki Amalia , Giannopoulou Effrosyni , Markopoulou Panagiota , Zosi Paraskevi , Lykopoulou Evangelia , Christopoulos Nikolaos , N. Zografos George , Valari Manthoula , Stefanaki Kalliopi , A. Stratakis Constantine , Charmandari Evangelia , Kanaka- Gantenbein Christina

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...

hrp0095p1-139 | Multisystem Endocrine Disorders | ESPE2022

“Cushing’s syndrome in a girl with Carney Complex: a case report”

Rivetti Giulio , Caterina Luongo , Aiello Francesca , Miraglia Del Giudice Emanuele , Marzuillo Pierluigi , Di Iorio Giovanni , Pellino Valeria , Grandone Anna

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

hrp0097lb4 | Late Breaking | ESPE2023

A novel variant in PRKAR1A at the exon-intron border leads to aberrant splicing in patients affected by carney complex.

Grosse Martin , Abicht Angela , Gebhard Christian , Grasemann Corinna , Kiewert Cordula , Unger Nicole , Weber Frank , Bierkamp-Christophersen Dirk , J Kaiser Frank , Munteanu Martin

Carney complex 1 (CNC, OMIM# 160980) is an autosomal-dominantly inherited complex tumor predisposition syndrome associated with skin pigment abnormalities and neoplasms of heart, endocrine glands and other organs. CNC is caused by heterozygous constitutional loss-of-function variants in the PRKAR1A-gene. PRKAR1A codes for the cAMP-dependent protein kinase type I-alpha regulatory subunit, an enzyme that represents an integral part of protein kinase A (PKA) tha...

hrp0097p2-157 | Adrenals and HPA Axis | ESPE2023

ACTH-independent hypercortisolemia: onset clinical picture in a 10-year-old boy with Carney complex

Lugarà Cecilia , Bertherat Jerome , Aversa Tommaso , Pasmant Eric , Valenzise Mariella , Pepe Giorgia , Ferraù Francesco , Cannavò Salvatore , Wasniewska Malgorzata , Corica Domenico

Background: “Carney complex” is an autosomal dominant inheritance extremely rare genetic syndrome, usually determined by PRKAR1A (17q22-24) gene mutations. The clinical picture is characterized by speckled skin pigmentation; cardiac, cutaneous and mammary myxomas; schwannomas; endocrinopathies (acromegaly, Cushing syndrome due to primary pigmented nodular adrenocortical disease) and tumors of the endocrine glands.Case...