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Volume 16.1

Sep 2018

In Memoriam:

Lawrence A. Frohman, MD (1935-2018)

Shlomo Melmed, MD



For Debate:

The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome


Lukáš Plachý, MD, Lenka Elblová, Mgr, PhD, Vít Neuman, MD, Filip Fencl, MD, PhD, Květa Bláhová, MD, PhD, Zbyněk Straňák, MD, PhD, Jan Lebl, MD, PhD, Štěpánka Průhová, MD, PhD





Overgrowth syndromes are rare genetic disorders characterized by excessive pre- and postnatal growth accompanied by dysmorphic features and developmental disorders. In addition to other health hazards, the life expectancy of affected children may be compromised due to an increased risk of developing tumors. To demonstrate the need for early recognition, correct diagnostic evaluation and adequate follow-up, we present a family with recurrent Simpson-Golabi-Behmel syndrome (SGBS). SGBS is a X-linked neonatal overgrowth syndrome caused by mutations in the GPC3 or GPC4 genes. All three affected males manifested with congenital diaphragmatic hernia. When fetal overgrowth and congenital diaphragmatic hernia co-occur, the choice for a possible cause is limited among SGBS, Marfan syndrome and Pallister-Killian syndrome. Their different phenotypes allow clinical assessment and correct diagnosis in most cases and should be followed by genetic testing. Regular oncologic screening aimed towards early recognition of malignant tumors may improve long-term outcomes in SGBS as well as in all other overgrowth syndromes.


Ref: Ped. Endocrinol. Rev. 2018;16(1):171-177

doi: 10.17458/per.vol16.2018.pen.fd.etiologicneonates


Is There a Difference between Ultrasonographic (US) Uterine Changes of Oral Versus Transdermal (TD) 17β Estradiol (17β E2) in Girls with Turner Syndrome (TS)? Own Experience and Literature Review

Jonathan Kraus, MD, Nancy Unanue, MD, Aníbal Espinoza, MD, German Iniguez, PhD, Lournaris Torres-Santiago, MD, Ravinder Singh5,PhD, Nelly Mauras, MD, Veronica Mericq, MD




Background: Among patients with Turner Syndrome (TS), premature ovarian failure is a main feature. Recently published consensus guidelines recommend that transdermal (TD) estradiol is the preferred route for estrogen replacement. Studies related to ultrasound (US) measurements during estrogen replacement in TS patients using estradiol (17β E2) and correlating uterine growth with estrogen metabolites are limited.

Objectives: To compare uterine morphology and hormonal changes depending on route of administration of 17β E2 (oral vs. TD) in a small population of girls with TS.

Subjects: 11 hypogonadal girls with TS (mean (SE) age 14.5 ± 1.4 years; BMI -0.98 ± -1.0 SDS) who participated in a larger study on the effects of oral versus TD 17β E2 agreed to do a sub-study on the effect of the form of 17β E2 treatment on uterine size.

Methods: 17β E2 was given orally or TD for 12 months, titrated to doses up to 2 mg orally or 100 μg TD to achieve normal estradiol levels. Subjects received monthly progesterone for 1 week for withdrawal bleeding. At baseline, 6 and 12 months, a pelvic ultrasound was performed while on estradiol only.

Results: Uterine morphology and endometrial thickness increased comparably in both groups. E2 concentrations were comparable at 12 months between both groups but E1 and E1S were lower in TD group at 12 months.

Conclusions: According to our experience, in a group of TS patients randomized to oral vs TD 17β E2 and monitored with trans-abdominal US, both groups achieved similar increases in uterine size comparable to normal women. To confirm our observation a larger sample and a longer evaluation period is needed.


Ref: Ped. Endocrinol. Rev. 2018;16(1):178-185

doi: 10.17458/per.vol16.2018.kue.uschangesversustd


Challenges in Prenatal Treatment with Dexamethasone

Bonnie McCann-Crosby, MD, Frank Xavier Placencia, MD, Oluyemisi Adeyemi-Fowode, MD, Jennifer Dietrich, MD, Rachel Franciskovich, MS, Sheila Gunn, MD, Marni Axelrad, PhD, Duong Tu, MD, David Mann, MD, MA, Lefkothea Karaviti, MD, PhD, Vernon Reid Sutton, MD



Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency causes elevated androgen levels, which can lead to virilization of female external genitalia. Prenatal dexamethasone treatment has been shown to be effective in preventing virilization of external genitalia when started prior to 7-9 weeks of gestation in females with classic CAH. However, CAH cannot be diagnosed prenatally until the end of the first trimester. Treating pregnant women with a fetus at risk of developing classic CAH exposes a significant proportion of fetuses unnecessarily, because only 1 in 8 would benefit from treatment. Consequently, prenatal dexamethasone treatment has been met with much controversy due to the potential adverse outcomes when exposed to high-dose steroids in utero. Here, we review the short- and long-term outcomes for fetuses and pregnant women exposed to dexamethasone treatment, the ethical considerations that must be taken into account, and current practice recommendations.


Ref: Ped. Endocrinol. Rev. 2018;16(1):186-193

doi: 10.17458/per.vol16.2018.mcpa.dexamethasone


The Management of Permanent Primary Hypoparathyroidism in Children and Adolescents: A Complex Task

Vincenzo De Sanctis, MD, Ashraf T Soliman, MD, PhD, FRCP, Salvatore Di Maio, MD, Christos Kattamis, MD


Management of hypoparathyroidism (hypoPT), depends on the etiology and the severity of hypocalcemia. Treatment goals include control of hypocalcemic symptoms preserving serum calcium in the low-normal range and phosphate in the high normal range. While correction of serum calcium to low-normal range does not fully correct mineral and bone metabolism it may be associated with increased risk of complications such as nephrolithiasis, nephrocalcinosis and soft tissue calcifications. Therefore, it is imperative to find out ways to individualize treatment of patients with hypoPT to achieve the best prognosis while minimizing complications. Replacement therapy with recombinant human PTH (rhPTH) was recently tested for optimizing treatment of hypoPT in a small number of patients. For children and adolescents, further studies are needed to evaluate the long-term effects and safety of rhPTH. In this short review we summarize current knowledge on the management of hypoPT and debate our gaps on the long-term management of children and adolescents with hypoPT.


Ref: Ped. Endocrinol. Rev. 2018;16(1):194-202

doi: 10.17458/per.vol16.2018.stsm.hypoparathyroidism


Clinical Perspectives of Mitochondrial Disorders

Josef Finsterer, MD, PhD



Mitochondrial disorders are increasingly recognised world-wide and represent a diagnostic and therapeutic challenge. This is due to the peculiarities of mitochondrial genetics and the extreme genotypic and phenotypic heterogeneity of these disorders. Traditional time-consuming and expensive diagnostic steps are increasingly replaced by first-line genetic approaches. Despite recent advances in the treatment and prevention of mitochondrial disorders, therapeutic approaches are still limited mainly to non-invasive or invasive symptomatic measures.


Ref: Ped. Endocrinol. Rev. 2018;16(1):203-208

doi: 10.17458/per.vol16.2018.f.mitochondrialdisorders


Meeting Report:

2018 Annual Meeting of the Endocrine Society

Chicago IL (March 17-20, 2018)

Selected Highlights

Alaina Vidmar, MD, Sarah Akhtar Ali, MD, Lily Chao, MD


Ref: Ped. Endocrinol. Rev. 2018;16(1):209-215

doi: 10.17458/


Meeting Report:

The 51st Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE), Osaka, Japan, September 28th-30th, 2017

Tatsuhiko Urakami, MD, PhD


Ref: Ped. Endocrinol. Rev. 2018;16(1):216-217

doi: 10.17458/

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