Filter

Refine by subject

Refine by date

—
  • Print
  • Save
  • Print

Diagnosis and Treatment > Signs and Symptoms

You are looking at 1 - 2 of 2 items for :

  • Prognathism x
  • Teeth gapping x
Clear All
Anne Marie Hannon Departments of Endocrinology and Diabetes, Cork University Hospital, Cork, Ireland

Search for other papers by Anne Marie Hannon in
Google Scholar
PubMed Close
,
Isolda Frizelle Departments of Endocrinology and Diabetes, Cork University Hospital, Cork, Ireland

Search for other papers by Isolda Frizelle in
Google Scholar
PubMed Close
,
George Kaar Departments of Neurosurgery, Cork University Hospital, Cork, Ireland

Search for other papers by George Kaar in
Google Scholar
PubMed Close
,
Steven J Hunter Department of Endocrinology and Diabetes, Royal Victoria Hospital, Belfast, UK

Search for other papers by Steven J Hunter in
Google Scholar
PubMed Close
,
Mark Sherlock Department of Endocrinology and Diabetes, Beaumont Hospital, Dublin, Ireland

Search for other papers by Mark Sherlock in
Google Scholar
PubMed Close
,
Christopher J Thompson Department of Endocrinology and Diabetes, Beaumont Hospital, Dublin, Ireland

Search for other papers by Christopher J Thompson in
Google Scholar
PubMed Close
,
Domhnall J O’Halloran Departments of Endocrinology and Diabetes, Cork University Hospital, Cork, Ireland

Search for other papers by Domhnall J O’Halloran in
Google Scholar
PubMed Close
, and
the Irish Pituitary Database Group
Search for other papers by the Irish Pituitary Database Group in
Google Scholar
PubMed Close

Summary

Pregnancy in acromegaly is rare and generally safe, but tumour expansion may occur. Managing tumour expansion during pregnancy is complex, due to the potential complications of surgery and side effects of anti-tumoural medication. A 32-year-old woman was diagnosed with acromegaly at 11-week gestation. She had a large macroadenoma invading the suprasellar cistern. She developed bitemporal hemianopia at 20-week gestation. She declined surgery and was commenced on 100 µg subcutaneous octreotide tds, with normalisation of her visual fields after 2 weeks of therapy. She had a further deterioration in her visual fields at 24-week gestation, which responded to an increase in subcutaneous octreotide to 150 µg tds. Her vision remained stable for the remainder of the pregnancy. She was diagnosed with gestational diabetes at 14/40 and was commenced on basal bolus insulin regimen at 22/40 gestation. She otherwise had no obstetric complications. Foetal growth continued along the 50th centile throughout pregnancy. She underwent an elective caesarean section at 34/40, foetal weight was 3.2 kg at birth with an APGAR score of 9. The neonate was examined by an experienced neonatologist and there were no congenital abnormalities identified. She opted not to breastfeed and she is menstruating regularly post-partum. She was commenced on octreotide LAR 40 mg and referred for surgery. At last follow-up, 2 years post-partum, the infant has been developing normally. In conclusion, our case describes a first presentation of acromegaly in pregnancy and rescue of visual field loss with somatostatin analogue therapy.

Learning points:

  • Tumour expansion may occur in acromegaly during pregnancy.

  • Treatment options for tumour expansion in pregnancy include both medical and surgical options.

  • Somatostatin analogues may be a viable medical alternative to surgery in patients with tumour expansion during pregnancy.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, Cortisol, GH, IGF1, Insulin, Prolactin, Thyroxine (T4), TSH, Condition/ Syndrome, Acromegaly, Diabetes insipidus - gestational, Pituitary adenoma, Patient Demographics, Age, Pregnant adult, Gender, Female, Ethnicity, White, Country of Treatment, Ireland, Diagnosis and Treatment, Signs and Symptoms, Hands - enlargement, Headache, Hemianopia, Prognathism, Teeth gapping, Visual field defect, Investigation, Cortisol, Cortisol (9am), CT scan, GH, Glucose (blood, fasting), Haemoglobin A1c, IGF1, MRI, Prolactin, Thyroid function, Total T4, TSH, Intervention, Caesarean section, Diet, Medication, Insulin, Octreotide, Somatostatin analogues, Publication Details, Case Report Type, Novel treatment
DOI:
https://doi.org/10.1530/EDM-19-0019
Volume/Issue:
Volume 2019: Issue 1
Open access
Syed Ali Imran Division of Endocrinology and Metabolism, Dalhousie University, Halifax, Nova Scotia, Canada

Search for other papers by Syed Ali Imran in
Google Scholar
PubMed Close
,
Khaled A Aldahmani Division of Endocrinology, Tawam Hospial, Al-Ain, UAE

Search for other papers by Khaled A Aldahmani in
Google Scholar
PubMed Close
,
Lynette Penney Department of Pediatrics, Tawam Hospial, Al-Ain, UAE

Search for other papers by Lynette Penney in
Google Scholar
PubMed Close
,
Sidney E Croul Department of Pathology, Tawam Hospial, Al-Ain, UAE

Search for other papers by Sidney E Croul in
Google Scholar
PubMed Close
,
David B Clarke Department of Neurosurgery, Dalhousie University, Halifax, Nova Scotia, Canada

Search for other papers by David B Clarke in
Google Scholar
PubMed Close
,
David M Collier Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

Search for other papers by David M Collier in
Google Scholar
PubMed Close
,
Donato Iacovazzo Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

Search for other papers by Donato Iacovazzo in
Google Scholar
PubMed Close
, and
Márta Korbonits Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

Search for other papers by Márta Korbonits in
Google Scholar
PubMed Close

Summary

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy.

Learning points:

  • Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.

  • Unusual, previously not described AIP variant with loss of the stop codon.

  • Phenocopy may occur in families with a disease-causing germline mutation.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, Dihydrotestosterone, FSH, GH, IGF1, LH, Prolactin, Thyroxine (T4), TSH, Condition/ Syndrome, Acromegaly, Gigantism, Hypogonadism, Pituitary adenoma, Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, American Indian or Alaska Native, Country of Treatment, Canada, Diagnosis and Treatment, Signs and Symptoms, Arthralgia, Face - coarse features, Fatigue, Hemianopia, Hypogonadism, Leg pain, Paraesthesia, Prognathism, Scoliosis, Skin - texture change, Teeth gapping, Visual impairment, Investigation, Bone age, Cortisol (9am), DNA sequencing, FSH, FT4, Genetic analysis, GH, GH suppression, Glucose tolerance (oral), Haematoxylin and eosin staining, Histopathology, IGF1, Immunohistochemistry, LH, Molecular genetic analysis, MRI, Prolactin, Testosterone, TSH, Visual field assessment, Weight, Intervention, Resection of tumour, Transsphenoidal surgery, Medication, Glucocorticoids, Hydrocortisone, Testosterone, Thyroxine (T4), Publication Details, Case Report Type, Error in diagnosis/pitfalls and caveats
DOI:
https://doi.org/10.1530/EDM-17-0092
Volume/Issue:
Volume 2018: Issue 1
Open access