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Endocrinology-Metabolism

The paediatric endocrinology and diabetology department deals with disorders of the body's hormone system. Hormones are chemical messengers that are produced by various glands in the body and regulate a variety of metabolic processes as well as influence the growth and development of a child. In paediatric endocrinology/diabetology, we basically distinguish between two different groups of diseases. One group of diseases is caused by the body producing too few hormone(s) and the other group of diseases is caused by the body producing too many or the wrong hormones. Both lead to a disturbance of various processes that are important for the healthy development of a child and adolescent, such as growth, pubertal development, a normal function of the thyroid gland or also of the adrenal glands, which produce our stress hormone cortisol. A special focus of our consultation is growth disorders. In the case of short stature, for example, one must think not only of a hormone deficiency but also of genetic diseases that can impair a child's growth. In our consultation hours we offer you this specialised diagnosis and therapy and are closely networked with many other specialists in the University Centre for Rare Diseases. A team of clinically experienced doctors and nurses is available to you at the Clinic for Paediatrics and Adolescent Medicine. The latest scientific findings and our own research results are directly incorporated into the care of our patients.

With over 300 patients, we have been one of the largest centres in Germany for many years to care for children and adolescents with diabetes mellitus type 1. These patients require particularly close care, as this diagnosis has a very strong impact on the everyday life of the children and adolescents. After the initial therapy phase, which usually takes place in hospital, an experienced team of doctors, nurses, diabetes counsellors and psychologists take care of the patients so that they can participate as normally as possible in life at kindergarten or school despite the necessary insulin injections.

For all the diseases mentioned below, we strive in the Centre for Rare Diseases to ensure a structured handover of the patients after the age of 18 to the specialised doctors from adult medicine in order to guarantee continuous care for the patients.

The Clinic and Polyclinic for Paediatrics and Adolescent Medicine as well as Endocrinology Department of the Medical Clinic & Polyclinic III and the Institute for Clinical Genetics  are involved in this cluster.

Clinic and Polyclinic for Paediatrics and Adolescent Medicine

Diseases

Disorder of growth - short stature:

Syndromal short stature (e.g. Ullrich-Turner syndrome, Noonan syndrome, Silver-Russel syndrome. Prader-Willi syndrome, Down syndrome, neurofibromatosis type 1)
Skeletal dysplasia (e.g. achondroplasia, hypochondroplasia, Léri-Weill dyschondrosteosis, Albright's hereditary osteodystrophy)
Therapy of patients with genetically confirmed achondroplasia with Vosoritide (Voxzogo)
Intrauterine dwarfism (small for gestational age, SGA)
Endocrine dwarfism (e.g. growth hormone deficiency, hypothyroidism, Cushing's syndrome, Laron's syndrome)
Organic short stature (e.g. due to chronic heart or lung or intestinal diseases)
Short stature due to metabolic disorders (disorders of calcium-phosphate metabolism, carbohydrate metabolism, fat metabolism and bone metabolism)


Disturbance of growth - tall stature:

Syndromal tall stature (e.g. Klinefelter syndrome, fragile X syndrome).
Syndromal tall stature with significant skeletal dysproportion (e.g. Marfan syndrome, homocystinuria)
Overgrowth syndromes (e.g. Sotos syndrome, Weaver syndrome)
Tall stature syndromes with asymmetrical growth (e.g. Beckwith-Wiedemann syndrome, Proteus syndrome, Klippel-Trenaunay-Weber syndrome)
Endocrine hypergrowth (e.g. pubertas precox, pseudopubertas precox, adrenogenital syndrome, growth hormone excess, hyperthyroidism, hyperinsulinism)


Disorders of pubertal development:

Premature sexual maturation (pubertas precox).
Pubertas präcox vera (e.g. due to brain tumours, neurofibromatosis type 1)
Pseudopubertas präcox (e.g. Mc Cune Albright syndrome, adrenogenital syndrome, sex hormone-producing tumours)
Absent, slowed or arrested development of maturity (pubertas tarda)
Central hypogonadotropic hypogonadism (e.g. Kallmann syndrome, brain tumours, DAX1 mutations)
Hypergonadotropic hypogonadism (e.g. Klinefelter syndrome, Noonan syndrome, damage to the gonads through chemotherapy and radiation, Ullrich-Turner syndrome, gonadal dysgenesis)


Thyroid function disorders:

Hypothyroidism (underactivity of the thyroid gland).
Congenital hypothyroidism
Central hypothyroidism (e.g. due to congenital panhypopituitarism, brain tumours)
Hashimoto's thyroiditis
Hyperthyroidism (overactive thyroid gland)
Graves' disease
Thyroid tumours (e.g. thyroid nodules, adenomas, carcinomas)


Primary adrenal insufficiency:

Adrenogenital syndrome
Familial glucocorticoid deficiency
Triple A syndrome
Addison's disease


Adrenal hyperfunction:

Cushing's syndrome
Polycystic ovary syndrome
Conn syndrome
Carney complex
Adrenocortical tumours (adenomas, carcinomas)


Diseases of the adrenal medulla:

Pheochromocytoma
Von Hippel-Lindau syndrome
Paragangliomas


Endocrine disorders of mineral balance:

Vitamin D-dependent rickets type I and II
X-linked dominant hypophatemic rickets (phosophate diabetes): Therapy with burosumab
Hypophopshatasia: therapy with asfotase alfa (Strensiq)
Hypercalcaemias (e.g. hyperparathyroidism, MEN type I

Special consultation hours

  • Endocrinology special outpatient clinic (KIK)

Prof. Dr. med. Angela Hübner
Dr. med. Gita Gemulla
Dr. med. Monika Flury
Dr. med. Friederike Quitter
Dr. med. Susen Reichardt
Josefine Mohn

  • Diabetes outpatient clinic (KIK)

Dr. med. Andrea Näke
Dr. med. Gita Gemulla
Dr. med. Monika Flury

Further Information >>

Integration into existing research networks

  • Clinical Research Centre /Transregio 205 "The adrenal gland: central switching point in health and disease in disease and health".
  •  Clinician Scientist-Programm RISE"Rare Important Syndrome in Endocrinology"
  • Participation in the benchmarking of the Quality Assurance Working Group of the Working Group for Paediatric Endocrinology (AQUAPE) of the Section for Paediatric Endocrinology and Diabetology (DGKED) of the German Society for Paediatrics and Adolescent Medicine (DGKJ) for the clinical pictures of connatal hypothyroidism and adrenogenital syndrome.
  • Participation in the "Diabetes Patient Progress Documentation" (DPV). DPV is an EDP-based documentation programme for patients with all types of diabetes, for adults as well as for children and adolescents.

Medical Clinic & Polyclinic III, Department of Endocrinology

Diseases

  • Diseases of the adrenal medulla (pheochromocytoma, paraganglioma)
  • Neuroendocrine tumours (carcinoid)
  • Adrenal carcinoma
  • Diseases associated with hyper- or hypofunction of the adrenal gland (e.g. primary hyperaldosteronism, Cushing's syndrome)

Spezialsprechstunden

  • Endocrinology outpatient clinic (MK III)
    Prof. Dr.med. Stefan R. Bornstein
    Prof. Dr. med. Lorenz C. Hofbauer
    O.A. Dr. med. Matthias Gruber
    Dr. med. Christina Pamporaki
    Further Information>>
  • Endocrinology study outpatient clinic (MK III)
    Prof. Dr.med. Stefan. R. Bornstein
    Prof. Dr. med. Triantafyllos Chavakis
    Prof. PhD Dr. med. Graeme Eisenhofer
    Dr. med. Christina Pamporaki

Integration into existing research networks