hrp0098rfc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Comparison of two automated bone age evaluation methods in pediatric patients with growth and puberty disorders

Lore Ruiz Arana Inge , Lechanteur Victor , Busiah Kanetee , Bouthors Thérèse , Christina Antoniou Maria , Stoppa Sophie , Ruspa Martina , Alamo Leonor , Hauschild Michael

Purpose: Artificial intelligence (AI) is increasingly used for medical imaging procedures, including automated bone age (BA) evaluation. We aimed to evaluate the agreement between two different BA methods, the IB lab PANDA® and BoneXpert® artificial intelligence methods vs. the manual reference rating in children for BA determination, and to compare the IB lab PANDA performance to the BoneXpert method.<stron...

hrp0092p1-365 | GH and IGFs (2) | ESPE2019

De Novo Formation of Neutralizing IGF-I Antibodies During rhIGF-1 Treatment in a Girl with IGFALS Deficiency as Distinct Adverse Event Interfering with Growth Promotion

Mittnacht Janna , Breil Thomas , Choukair Daniela , Duffert Christin , Hwa Vivian , Rosenfeld Ron , Bettendorf Markus

Background: IGFALS deficiency is a rare cause of GH insensitivity (GHI). We report a German girl with short stature who was born as 2nd child at 40 weeks of gestation. Her Caucasian parents were unrelated and healthy (target height 168 cm, SDS 0.2). She was born appropriately sized for gestational age (49 cm, SDS -1.2; 2950 g, SDS-1.2). Height (104.8 cm; SDS -2.94) and height velocity (5.1 cm / year; SDS -1.67) were reduced at the age of 6 years.</p...

hrp0092p2-269 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Pseudo-Precocious Puberty in Children Triggered by Incidental Transdermal Contamination with Topical Sex Steroids Through Parents

Yakovenko Vira , Choukair Daniela , Duffert Christin , Mittnacht Jana , Klose Daniela , Bettendorf Markus

Introduction: Pseudo-precocious puberty may be triggered by either endogenous or exogenous sex steroids. Accidental ingestion of contraceptives, anabolic steroids or life style products containing sex steroids as well as transdermal transmission of topical sex steroids may cause early onset of secondary sexual development.Objective: To report the clinical course of incidental contamination with topical sex steroids in ch...

hrp0086fc7.3 | Gonads &amp; DSD | ESPE2016

Estrogen Insensitivity due to a Novel ESR1 Mutation in a Consanguineous Family from Algeria

Kherra Sakina , Ladjouze Asmahane , Bernard Valerie , Anane Tahar , Laraba Abdenour , Christin-Maitre Sophie

Background: Estrogen insensitivity syndrome is a form of functional estrogen deficiency which is caused by a defect in the estrogen receptor type α (ESR1). As a result of the receptor mutation, estrogens cannot be recognized and hence initiate their biological action on pubertal growth, skeletal maturation, and accrual of bone mass. A mutation in the gene encoding ESR1 has been described in only 2 cases (one man and one woman). We now describe the first family with ESR1 m...

hrp0098p2-48 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Two likely compound heterozygous variants in SLC34A1 causing idiopathic infantile hypercalcemia (IIH) type 2 - a case report

Maria Duffert Christin , Choukair Daniela , Syrbe Steffen , Henje Driedger Jan , Platzer Konrad , Bettendorf Markus

Children affected by idiopathic infantile hypercalcemia (IIH) may develop polyuria, polydipsia, failure to thrive, developmental delay and nephrocalcinosis already during the first weeks of life. Elevated levels of activated 1-,25(OH)2D3 have been shown to cause the characteristic increase in serum calcium levels in this disorder. Two major underlying genetic causes have been identified so far: in IIH type 1 loss-of-function mutations in CYP24A1 ...

hrp0084p2-351 | Fat | ESPE2015

Domino Liver Transplantation for the Pre-Emptive Therapy of Compound Heterozygous Familial Hypercholesterolemia: A Case of 2-Year-Old Girl

Tanaka Hiroyuki , Sugawara Daisuke , Tanaka Yasuko , Yoshida Tomoko , Nakao Kanako , Uchida Noboru , Yamamoto Akiko , Fukuda Akinari , Kasahara Mureo , Horikawa Reiko

Background: Patients with homozygous and compound heterozygous familial hypercholesterolemia (FH) have markedly elevated plasma LDL cholesterol (LDL-C) from birth. If untreated, patients develop cardiovascular atherosclerosis resulting in death before the second decade of life. Medication and apheresis are only partially effective in reducing LDL-C levels, and do not significantly improve the prognosis. Liver transplantation (LT) can nearly normalize the cholesterol metabolism...

hrp0089p3-p307 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Premature Adrenarche and Pseudohypoparathyroidism – Mechanistically Linked or Coincidence?

Odone Jessica , Yadlapalli Kumar , Burren Christine

Aims: To describe a case of premature adrenarche with pseudohypoparathyroidism, an as yet unreported combination.Case: An otherwise well 8 year old girl presented to a Paediatric Endocrine Clinic with early pubic hair development suggestive of Premature Adrenarche. Blood tests revealed hypocalcaemia, elevated phosphate and highly elevated parathyroid hormone (PTH) level, giving a biochemical diagnosis of pseudohypoparathyroidism. She had normal stature (...

hrp0086p1-p119 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Novel p.Asn628Ser Heterozygous Mutation in FGFR1 is Associated with Hartsfield Syndrome and Tumoral Calcinosis

Prasad Rathi , Brewer Carole , Burren Christine

Background: Our patient, a male infant has bilateral cleft lip and palate, bilateral split hand and foot, semilobar holoprosencephaly and specific pituitary defects (cranial diabetes insipidus, gonadotrophin deficiency). He developed tumoral calcinosis at 16 months.Objective and hypotheses: Our patient’s phenotype is suggestive of Hartsfield syndrome. We hypothesise that he harbours a FGFR1 mutation given recently published findings associa...

hrp0086p1-p623 | Growth P1 | ESPE2016

Autosomal Dominant Growth Hormone Deficiency due to a Novel Mutation in the gh1 Gene

Ternand Christine , Gao Harry , Miller Bradley

Background: Familial growth hormone deficiency (GHD) with an autosomal dominant inheritance pattern (isolated GHD type II) due to multiple different mutations in the GH1 gene have been described.Objective and hypotheses: Describe the clinical characteristics and mutation analysis of affected individuals in a family with growth hormone deficiency inherited in an autosomal dominant pattern.Method: Medical record review.<p class="...

hrp0095p2-73 | Diabetes and Insulin | ESPE2022

Recurrent glycogenic hepatopathy in an 11-year-old boy with poor glycemic controlled type 1 diabetes mellitus

Sasaoka Daiki , Kojima Kanako , Koga Nobuhiko , Sasaki Fusako , Tanaka Yukari , Yatsuga Shuichi , Nagamitsu Shinichiro

Introduction: Glycogenic hepatopathy (GH) is a rare diabetic complication that induces hepatomegaly and elevated transaminases, which can often appear in type 1 diabetes mellitus (T1DM) with poor glycemic control. GH appears when excess glycogen accumulates in the liver through continued hyperglycemia with intensive insulin therapy. We show a pediatric case of recurrent GH due to poor glucose controlled with complicated family environment and mildly intellectu...