Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency

Zielonka, Matthias; Makhseed, Nawal; Blau, Nenad; Bettendorf, Markus; Hoffmann, Georg F.; Opladen, Thomas

doi:10.1007/8904_2015_450

Cited by 15 publications

(10 citation statements)

References 26 publications

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“…Single case reports add endocrine dysfunction like growth-hormone deficiency (PTPSD) or central hypothyroidism (SRD) to the clinical phenotype [22,23]. An increased frequency of prematurity has been reported in PTPSD and DHPRD.…”

Section: Clinical Patterns Specific Of Ptpsd Dhprd Ar-gtpchd and Srdmentioning

confidence: 99%

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Opladen

López‐Laso

Cortès‐Saladelafont

et al. 2020

Orphanet J Rare Dis

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104

124

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Background: Tetrahydrobiopterin (BH 4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH 4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH 4 deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH 4 deficiencies. Conclusion: Although the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH 4 deficient patients.

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Section: Clinical Patterns Specific Of Ptpsd Dhprd Ar-gtpchd and Srdmentioning

confidence: 99%

“…Prolactin was found normal in AD-GTPCHD subjects [73]. In SRD, no reports on elevated prolactin levels were available [21,23,74]. For AR-GTPCHD and PCDD, no literature evidence was available.…”

Section: Other Diagnostic Tests: Blood Prolactinmentioning

confidence: 99%

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Opladen

López‐Laso

Cortès‐Saladelafont

et al. 2020

Orphanet J Rare Dis

Self Cite

104

124

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“…46,47 IGF-1 may mediate dopamine's effect, because high levels of dopamine could suppress the IGF-1 level. 48 Second, near work may also impose its impact on axial growth by upregulating the IGF-1 receptor in retinal pigment epithelium according to an animal study. 40 Third, short sleep duration could greatly increase the risk of being insulin resistant, 49 which could increase the serum level of IGF-1.…”

Section: Discussionmentioning

confidence: 99%

The association between menarche and myopia and its interaction with related risk behaviors among Chinese school-aged girls: a nationwide cross-sectional study

Jan

Song

et al. 2020

J Dev Orig Health Dis

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Nearly 80% of new cases of myopia arise between 9 and 13 years old when puberty development also progresses rapidly. However, little is known about the association between myopia and puberty. We aim to evaluate the association between myopia and menarche, the most important puberty indicator for girls, and to test whether menarche could modify the effects of myopia-related behaviors. The participants came from two consecutive national surveys conducted in 30 provinces in mainland China in 2010 and 2014. We included 102,883 girls (61% had experienced menarche) aged 10–15 years. Risk behaviors for myopia which included sleep duration, homework time, and outdoor activity were measured by self-administrated questionnaire. Myopia was defined according to a validated method, and its relationships with menarche status and behaviors were evaluated by robust Poisson regression models based on generalized estimated equation adjusting for cluster effect of school. We found that postmenarche girls were at 13% (95% confidence interval: 11%–16%) higher risk of myopia than premenarche girls, after adjusting for exact age, urban–rural location, survey year, and four behavioral covariates. Short sleep duration (<7 h/d), long homework time (>1 h/d) and low frequency of weekend outdoor activity tended to be stronger (with higher prevalence ratios associated with myopia) risk factors for myopia in postmenarche girls than in premenarche girls, and their interaction with menarche status was all statistically significant (P < 0.05). Overall, our study suggests that menarche onset may be associated with increased risk of myopia among school-aged girls and could also enhance girls’ sensitivity to myopia-related risk behaviors.

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“…21 In contrast to GTPCH-D, the vast majority of SR-D patients show signs of cognitive learning disabilities. 17,22 Recently, endocrinological disturbances such as hypoglycemia and growth-hormone deficiency were identified as early symptoms of dopamine depletion in SR-D. 23 Diagnosis of these disorders may be challenging as early signs may be nonspecific and mimic cerebral palsy. In infants, dystonic spasms and oculogyric crises are often misinterpreted as epileptic activity resulting in frequent delayed or misdiagnoses.…”

Section: Sepiapterin Reductase Deficiency (Dyt/park-spr)mentioning

confidence: 99%

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment

et al. 2018

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Neurotransmitter deficiencies are rare neurological disorders with clinical onset during childhood. The disorders are caused by genetic defects in the enzymes involved in synthesis, degradation, or transport of neurotransmitters or by defects in the cofactor biosynthesis such as tetrahydrobiopterin (BH4). With the newly described DNAJC12 deficiency, a chaperon-associated neurotransmitter disorder, the pathophysiological spectrum has been broadened. All deficiencies result in a lack of monoamine neurotransmitters, especially dopamine and its products, with a subset leading to decreased levels of serotonin. Symptoms can occur already in the neonatal period. Classical signs are hypotonia, movement disorders, autonomous dysregulations, and impaired development. Diagnosis depends on quantitative detection of neurotransmitters in cerebrospinal fluid, since peripheral markers in blood or urine are less reliable. Treatment is based on supplementation of the missing neurotransmitter precursors or restoring deficient cofactors for endogenous enzymatic synthesis. In recent years, knowledge about this orphan group of diseases increased substantially among clinicians. However, the difficult task of integrating clinical symptoms and laboratory values still leads to a critical delay in diagnosis and therapy for patients. This review aims at enhancing the understanding of neurotransmitter disorders and should help practicing clinicians to choose useful diagnostic steps on the way to a valid diagnosis.

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Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency

Cited by 15 publications

References 26 publications

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

The association between menarche and myopia and its interaction with related risk behaviors among Chinese school-aged girls: a nationwide cross-sectional study

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment

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