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- Decker, Ralph, 1968, et al.
(författare)
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Case report of a girl with secondary amenorrhea associated with aurantiasis cutis
- 2016
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Ingår i: Hormone Research in Paediatrics. - : S. Karger AG. - 1663-2818 .- 1663-2826.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: --- Aurantiasis cutis is a condition of yellowish or golden skin discoloration that can result from eating excessive amounts of foods containing carotene leading to hypercarotenemia(1), described causing secondary amenorrhea(2). Objective & hypothesis: --- Hypercarotenemia can cause secondary amenorrhea without overconsumption of excessive quantities of carotene. Results: --- Laboratory tests showed a ß-Carotene level more than the 2-fold above the upper reference level. Hyperbilirubinemia could be excluded. Hypogonadotropic hypogonadism was not present. There was no evidence for adrenal dysfunction. Liver function tests were normal. Material/ Methods: --- A 16-year-old girl presented to our endocrine outpatient clinic with a 2-year history of varying yellow discoloration of her skin and secondary amenorrhea. The findings of the general physical examination were normal, but there was a marked yellow discoloration of the palms, soles, and nasolabial folds. A dietary history revealed a low carotene diet, but also a low carbohydrate diet. BMI was 19.9 kg/m² (-0.2 SDS) without signs of anorexia. Discussion: --- In this girl we observed hypercarotenemia associated with secondary nonhypothalamic amenorrhea in absence of excess external intake of carotenes. This suggests an intrinsic reason due to a polymorphism(3) in ß-carotene 15,15'-monooxygenase (BCO)(4), an enzyme breaking down carotenes to vitamin A(5). Phenotype-genotype association studies are needed to confirm this hypothesis. Conclusion: --- Secondary non-hypothalamic amenorrhea can be associated with hypercarotenemia. References: --- 1. Tanikawa K, Seta K, Machii A, Itoh S 1961 [Aurantiasis cutis due to overeating of dried laver (nori): a case report]. Jpn J Med Sci Biol 50:414-419 2. Kemmann E, Pasquale SA, Skaf R 1983 Amenorrhea associated with carotenemia. JAMA 249:926-929 3. Leung WC, Hessel S, Meplan C, Flint J, Oberhauser V, Tourniaire F, Hesketh JE, von Lintig J, Lietz G 2009 Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers. FASEB j 23:1041-1053 4. Frumar AM, Meldrum DR, Judd HL 1979 Hypercarotenemia in hypothalamic amenorrhea. Fertil Steril 32:261-264 5. Lindqvist A, Andersson S 2002 Biochemical properties of purified recombinant human beta-carotene 15,15'-monooxygenase. J Biol Chem 277:23942-23948
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| 2. |
- Decker, Ralph, 1968, et al.
(författare)
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Laboratory tests - Endocrinology : ENDOKRINOLOGISCHE LABORFUNKTIONSTESTS
- 2018
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Bok (övrigt vetenskapligt/konstnärligt)abstract
- Die Durchführung von Funktionstests in der pädiatrischen und in der Erwachsenen-Endokrinologie erfordert eine ganz besondere Präzision und zum Teil langjährige Erfahrung in der Indikationsstellung, Durchführung und Bewertung. Diese Fibel soll einen pragmatischen Zugang zur endokrinologischen Diagnostik ermöglichen. Die Autoren verfügen über eine mehr als 20-jährige eigene Expertise und führen alle beschriebenen Funktionstests selbst wie hier beschrieben durch. Die Funktionstests sind im Laufe der Jahre auch immer wieder angepasst worden, die Testabläufe und auch die Bewertungen haben sich etwas verändert, zum Teil fehlen für ältere Testbeschreibungen essenzielle Medikamente (z. B. Pentagastrin), andere Substanzen sind aktuell wieder verfügbar (z. B. Metyrapon [Metopiron® HRA Pharma]). Weiterhin konnten Fehler in früheren Publikationen berichtigt werden. Besonderes Augenmerk wurde auf die Praktikabilität gelegt: Indikationstellender Arzt, der Patient, die Arzthelferin oder Krankenschwester und das endokrinologische Spezial-Labor bilden ein gemeinsames Team als Garant für ein verwertbares Ergebnis. Alle endokrinologischen Funktionstests werden in einem einheitlichen Schema dargestellt. Alle Hormonwerte werden in konventionellen und in SI-Einheiten angegeben. Aktuelle Literaturangaben ergänzen die vorliegende Übersicht. Diese Auflage enthält bewusst nicht alle theoretisch möglichen endokrinologischen Funktionstests, wir haben uns auf die wichtigsten Indikationen und auf die Durchführbarkeit in einer ambulanten Praxis beschränkt, heute obsolete Funktionstests (z. B. Fludrocortisontest) werden nicht aufgeführt.
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| 3. |
- Decker, Ralph, 1968, et al.
(författare)
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Severe osteoporosis in transwomen due to cessation of estrogen replacement after gender-confirming surgery
- 2018
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Ingår i: 25th WPATH Symposium in Buenos Aires, Argentina.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Background The effect of sex steroids on the bone health of transgender individuals has been scarcely studied (1). In some male-to-female transgender, there was a lack of Estradiol treatment after gender-confirming surgery (GCS) in the 1980th and 1990th in a subgroup of patients. Lack of Estradiol is known to decrease bone mineral density (BMD) and increase the risk of fracture, especially in postmenopausal women (2). Objective & hypothesis Cessation of cross-sex hormonal treatment after GCS leads to osteoporosis. Material/ Methods A We studied prospectively a cohort of 288 transgender individuals male-to-female between 2009 - 2017. In 37 (12.8%) out of 288 patients, Dual-Energy-X-ray Absorptiometry (DXA) was performed using a DXA Luna Prodigy when hypogonadism was present (3). BMD references were used according to the original biological sex. Results In 28 cases out of 37 (76%) in whom DXA was performed, either osteopenia (BMD -1.0 to -2.5) or osteoporosis (BMD < -2.5) was detected 15.5 years after GCS without or insufficient Estradiol treatment postoperatively. Low BMD was correlated to low estradiol values before estradiol treatment was reintroduced. While lumbar osteopenia was improved after 2.3 years, osteoporosis could only be slightly enhanced, but none of the cases was fully reverted. Additionally, a significant number (23/37; 62%) of patients dropped out of further follow-up and compliance to take the Estradiol medication was moderate in the remaining. Discussion Lack of sufficient Estradiol treatment after successful gender-confirming surgery in male-to-female transgender causes osteopenia in up to 49% of these trans-women and osteoporosis in up to 38%. Both lumbar as well as femoral BMD were markedly decreased. Nevertheless, a fracture was detected solely in one case. The relationship between bone density and fracture risk, however, is a continuum, without a clear “fracture threshold” (3). The fracture risk in the future remains high in these mean 45 year old patients, ranging from 21 to 78 years. References 1.Singh-Ospina N, Maraka S, Rodriguez-Gutierrez R, Davidge-Pitts C, Nippoldt TB, Prokop LJ, Murad MH (2017) Effect of Sex Steroids on the Bone Health of Transgender Individuals: A Systematic Review and Meta-Analysis. J Clin Endocrinol Metab, 102(11):3904–3913 2.Black DM, Rosen CJ (2016) Postmenopausal osteoporosis. N Engl J Med 374(3):254–262 3.Camacho PM et al (2016) American association of clinical endocrinologists and american college of endocrinology clinical practice guidelines for the diagnosis and treatment of postmenopausal osteoporosis. Endocr Pract. 2016 Sep 2;22(Suppl 4)
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| 4. |
- Decker, Ralph, 1968, et al.
(författare)
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Trans-location of different CYP21A2 mutations in a family with late-onset congenital adrenal hyperplasia (CAH) : Compound CYP21A2-gene mutations in late-onset CAH
- 2017
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Ingår i: JA-PED Meeting 17-19 Nov 2017 (German Paediatric Endocrine Society).
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by different mutations in the CYP21A2-gene. To confirm if the symptoms of a heterozygous 21-hydroxylase deficiency are due to a trans- or a cis-location of the different mutations. The patient was a 18-year-old adolescent female. She presented with hirsutism with 26/48 scores of the Ferriman-Gallwey scoring system. At the age of 16, she presented with oligomenorrhea. We detected a hyperandrogenemia (testosterone 2.42 nmol/L; reference 0.29 - 1.67), slightly elevated serum 17-OH-progesterone (17-OHP) levels (2.4 μg/L; reference follicle phase 0.32 – 1.47 μg/l), normal ACTH and plasma renin. No signs of cortisol deficiency (serum early morning cortisol 378 nmol/L; reference 6-10 h: 133 - 537 nmol/L) or salt-wasting were present. ACTH-testing revealed a sufficient cortisol response after 60 min. (645 nmol/L; reference >550 nmol/L) but a substantial increase of 17-OHP (6.2 µg/L; reference <2.6 µg/L), indicating a heterozygous 21-hydroxylase deficiency. The heterozygous mutations were confirmed by DNA sequence analysis of the CYP21A2-gene in this family: 1.) Mother - heterozygous Val281Leu (1). She is a conductor of the late-onset CAH. 2.) Father - IVS2-13A>G (2) and Pro453Ser (3), on the same allele and c.*13G>A on the other allele. He is conductor of the late-onset CAH and the classical CAH at the same time. Both parents have no complains and show no signs of CAH. The mutations in all three children are positioned in trans-locations, consistent with late-onset CAHs: 3.) 18-yo index patient inherited one allele with Val281Leu (maternal) and the other allele with c.*13G>A (paternal). He is conductor of the late-onset CAH and the classical CAH at the same time. 4.) Her 17-yo brother – on one allele IVS2-13A>G and Pro453Ser (paternal) and the other allele Val281Leu (maternal). 5.) Her 12-yo brother Val281Leu and c.*13G>A. Genetic testing confirmed the suspected diagnosis late-onset CAH in our patient as well as in her siblings due to trans-locations of different mutations of the CYP21A2-gene. The wife of the 17-yo brother became pregnant recently. The fetus in the 10th gestational week is at risk to inherit both the classical CAH and late-onset CAH. Examinations of families with late-onset CAH and genetic counseling is mandatory in order to evaluate compound heterozygosity.
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