scholarly journals Neonatal Detection of Congenital Hypothyroidism of Central Origin

2005 ◽  
Vol 90 (6) ◽  
pp. 3350-3359 ◽  
Author(s):  
David A. van Tijn ◽  
Jan J. M. de Vijlder ◽  
Bernard Verbeeten ◽  
Paul H. Verkerk ◽  
Thomas Vulsma
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Resonance Imaging ◽  
Pituitary Hormone Deficiency ◽  
Screening Programs ◽  
Central Origin

Due to the high frequency of concurrent pituitary hormone deficiencies, congenital hypothyroidism (CH) of central origin (CH-C) is a life-threatening disorder. Yet only a minority of these patients are detected by neonatal CH screening programs worldwide. We conducted a prospective multicenter study involving a 2-yr cohort of neonatally diagnosed CH-C patients to determine whether a T4-TSH-based neonatal CH screening protocol extended with T4 binding globulin determinations improves early detection of CH-C and to assess the extent of pituitary hormone deficiency among the identified CH-C patients. In all infants with screening results indicative of CH-C, the functional integrity of the hypothalamo-hypophyseal system was investigated by dynamic tests; the anatomical integrity was investigated by magnetic resonance imaging. Initial test results were evaluated after 5 yr of follow-up. Among 385,000 infants screened over the 2-yr period, 19 cases of permanent CH-C were detected (prevalence, 1:20,263; 95% confidence interval, 1:12,976 to 1:33,654), representing 13.5% of all detected cases of permanent CH. The majority (78%) had multiple pituitary hormone deficiency, whereas 53% had pituitary malformations on magnetic resonance imaging. We conclude that infants with CH-C can very well be detected by neonatal screening. The estimated prevalence and the severity of pituitary dysfunction of this treatable disorder call for explicit attention for this entity of CH in neonatal screening programs worldwide.

scholarly journals Long-term follow-up evaluation of magnetic resonance imaging in the prognosis of permanent GH deficiency

2000 ◽  
pp. 493-496 ◽  
Author(s):  
M Bozzola ◽  
F Mengarda ◽  
P Sartirana ◽  
L Tato ◽  
JL Chaussain
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Prognostic Marker ◽  
Gh Deficiency ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Resonance Imaging ◽  
Long Term Follow Up ◽  
Magnetic Resonance Imaging Mri

OBJECTIVE: In patients with GH deficiency (GHD), magnetic resonance imaging (MRI) has revealed morphological abnormalities such as pituitary hypoplasia, pituitary stalk agenesis (PSA) and ectopia of the posterior pituitary (PPE). The MRI anomalies have been more frequently reported in patients with multiple pituitary hormone deficiency (MPHD) than in subjects with isolated GH deficiency (IGHD). The aim of this work was to define which MRI anatomical abnormalities of the hypothalamo-pituitary area can be considered as a prognostic marker of permanent GHD. DESIGN: To investigate the relationship between the neuroradiological images and endocrine findings, we clinically re-evaluated 93 out of the 121 GHD patients with IGHD and MPHD previously studied. RESULTS: No additional hormone deficiencies were observed in 55 out of 60 patients initially classified as having IGHD with a normal (15 cases) or reduced (40 cases) pituitary gland size, without other MRI abnormalities. The remaining five children, who had initially shown an apparently IGHD in spite of PSA and PPE, developed a MPHD over time. In 33 MPHD patients with (25 cases) or without (8 cases) MRI abnormalities, the associated hormone deficiencies were confirmed during follow-up. CONCLUSIONS: The IGHD patients showing PSA and PPE inevitably develop additional hormone deficiencies, while IGHD subjects having no MRI abnormalities maintain IGHD. Moreover, the anatomical abnormalities of the hypothalamo-pituitary area can be considered as a prognostic marker of permanent GHD.

scholarly journals Endocrine Status in Patients with Optic Nerve Hypoplasia: Relationship to Midline Central Nervous System Abnormalities and Appearance of the Hypothalamic-Pituitary Axis on Magnetic Resonance Imaging

2003 ◽  
Vol 88 (11) ◽  
pp. 5281-5286 ◽  
Author(s):  
N. H. Birkebæk ◽  
L. Patel ◽  
N. B. Wright ◽  
J. R. Grigg ◽  
S. Sinha ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Optic Nerve ◽  
Magnetic Resonance ◽  
Optic Nerve Hypoplasia ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Endocrine Dysfunction ◽  
Resonance Imaging ◽  
Hypothalamic Pituitary Axis ◽  
Group 2

Abstract We here: 1) describe the phenotypic spectrum, including magnetic resonance imaging (MRI) appearances of the pituitary stalk and anterior and posterior pituitary [H-P (hypothalamic-pituitary) axis], in children with optic nerve hypoplasia (ONH) with or without an abnormal septum pellucidum (SP); and 2) define endocrine dysfunction according to the MRI findings. Medical records of 55 children with ONH who had been assessed by ophthalmology and endocrine services were reviewed. All had MRI of the brain and H-P axis. Forty-nine percent of the ONH patients had an abnormal SP on MRI, and 64% had a H-P axis abnormality. Twenty-seven patients (49%) had endocrine dysfunction, and 23 of these had H-P axis abnormality. The frequency of endocrinopathy was higher in patients with an abnormal SP (56%) than a normal SP (39%). Patients were divided into four groups based on SP and H-P axis appearance: 1) both normal; 2) abnormal SP and normal H-P axis; 3) normal SP and abnormal H-P axis; and 4) both abnormal. The frequency of multiple pituitary hormone deficiency was highest (56%) in group 4, lower (35%) in group 3, and even lower (22%) in group 2. Precocious puberty was most common in group 2. None of the patients in group 1 had endocrine dysfunction. Thus, SP and H-P axis appearances on MRI can be used to predict the likely spectrum of endocrinopathy.

scholarly journals AN UNEXPECTED COMBINATION OF PROLACTINOMA AND SEPTO-OPTIC DYSPLASIA

2019 ◽  
Vol 5 (5) ◽  
pp. e282-e286
Author(s):  
Marie-Noel Rahhal ◽  
Laure Sayyed Kassem
Keyword(s):  
Magnetic Resonance Imaging ◽  
Pituitary Adenoma ◽  
Magnetic Resonance ◽  
Reference Range ◽  
Serum Cortisol ◽  
Hormone Deficiency ◽  
Resonance Imaging ◽  
Adrenal Androgens ◽  
Recent Onset ◽  
New Onset

Objective: To describe the unusual finding of pituitary adenoma in a patient with septo-optic dysplasia (SOD). Methods: We describe the clinical presentation, biochemical and radiological evaluation, treatment, and outcomes of a patient with macroprolactinoma and previously undiagnosed SOD. Results: A 41-year-old woman with optic nerve hypoplasia and growth hormone deficiency presented with new-onset galactorrhea, polyuria, and polydipsia. Physical exam was notable for bilateral galactorrhea. Laboratory workup showed a prolactin level of 176 μg/L (reference range is 6 to 20 μg/L), serum cortisol of 7.7 μg/dL (reference range is 5.0 to 20.0 μg/dL), and adrenocorticotropic hormone of 54 pg/mL (reference range is 0 to 46 pg/mL). Thyroid function and pituitary-gonadal axis testing were normal. Low-dose cosyntropin test showed a borderline cortisol response and persistently low adrenal androgens, suggestive of partial secondary adrenal insufficiency. A water deprivation test showed evidence of diabetes insipidus (DI). Magnetic resonance imaging of the sella showed a 1.0 × 1.0 × 1.5-cm mass compatible with pituitary adenoma, absence of septum pellucidum, and atrophy of the optic nerves. The patient was diagnosed with SOD with partial hypopituitarism and a concomitant macroprolactinoma of more recent onset resulting in DI. The patient was treated with cabergoline with good clinical and biochemical response including resolution of DI symptoms. Subsequent magnetic resonance imaging of the sella showed near resolution of the prolactinoma. Conclusion: We conclude that a diagnosis of SOD should not exclude the possibility of a pituitary adenoma in the appropriate clinical context, and that the pattern of hormonal deficits in such a combination may be uncharacteristic of the deficits expected with pituitary adenoma alone.

scholarly journals Extrapontine Myelinolysis following Extreme Hypernatremia and Hyperosmolarity

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Jan-Niclas Schwade ◽  
Lior Haftel ◽  
Lars Rühe ◽  
Matthias Endmann
Keyword(s):  
Magnetic Resonance Imaging ◽  
Growth Hormone ◽  
Magnetic Resonance ◽  
Growth Hormone Deficiency ◽  
Medical History ◽  
Hormone Deficiency ◽  
Resonance Imaging ◽  
Cranial Magnetic Resonance Imaging ◽  
Extrapontine Myelinolysis ◽  
Therapeutic Implications

We present a case of a nearly 3-year-old girl who was admitted to hospital due to severe hypernatremia (196 mmol/l). Her medical history included central hypothyreosis and growth hormone deficiency. Rehydration and normalization of sodium was achieved according to guidelines. On the fourth day of hospitalization, the patient developed tremor, ataxia, and rigor. Cranial magnetic resonance imaging (cMRI) was performed and (mis)interpreted for meningoencephalitis, with corresponding diagnostic and therapeutic implications. The patient had extrapontine myelinolysis. The child recovered completely after hospitalization for nearly 2 weeks.

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