Pasqualini syndrome

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Classification according to ICD-10
Q56.1 Masculinus pseudohermaphroditism, not elsewhere classified
E29.1 Testicular hypofunction
Q56.1 Hypopituitarism
ICD-10 online (WHO version 2019)

The Pasqualini syndrome , "fertile eunuchoidism" is a very rare congenital disease with the main features of a eunuch -like high growth and a testicular dysfunction with decreased androgen production due to a malfunction of the GnRH insulated lack of luteinizing hormone (Hypogonadotropismus), but existing to normal spermatogenesis and Fertility .

Synonyms are: Hypogonadotropic Hypogonadism 23 Without Anosmia; HH23

The name refers to the first author of the first description from 1950 by the Argentine endocrinologist Rodolfo Q. Pasqualini and EG Bur .

root cause

The disease are mutations in LHB - gene on chromosome 19 locus q13.33 basis.

Clinical manifestations

Clinical criteria are:

  • Image of eunuchoidism: tall stature, obesity, fistulous voice, lack of secondary hair
  • normal testicular findings, decreased ejaculate amount, normal fertility

diagnosis

Due to the LH deficiency, there was a significant increase in Leydig interstitial cells histologically .

Congenital isolated hypogonadotropic hypogonadism with reduced LH levels with normal FSH levels in the blood serum .

history

After the first description in 1950, Pasqualini published a publication in English in 1953.

In the same year E. PERRY McCULLAGH, JC BECK, and CA SCHAFFENBURG also described the clinical picture.

literature

  • H. Valdés Socin, A. Beckers: El Síndrome de PAasqualini: Hipoandrogenismo con Espermatogénesis Conservada. In: Medicina. Vol. 75, No. 1, 2015, pp. 53-58, PMID 25637904 .
  • OP Hornstein, H. Becker, N. Hofmann, HP Kleissl: Pasqualini syndrome ("fertile eunuchoidism") Clinical, histological and hormone-analytical findings. In: German Medical Weekly . Vol. 99, No. 39, September 1974, pp. 1907-11 passim, doi: 10.1055 / s-0028-1108067 , PMID 4608941 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ^ Leydig cell hypoplasia due to LHB deficiency. In: Orphanet (Rare Disease Database).
  3. ↑ Guideline Hypogonadotropic Hypogonadism
  4. ^ RQ Pasqualini, EG Bur: Sindrome hipoandrogenico con gametogenesis conservada: clasificacion de la insuficiencis testicular. In: Revista de la Asociación Médica Argentina , Vol. 64, 1950, p. 6
  5. ^ Hypogonadotropic hypogonadism 23 with or without anosmia.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ RQ PASQUALINI: Hypoandrogenic syndrome with normal spermatogenesis. In: The Journal of clinical endocrinology and metabolism. Vol. 13, No. 1, January 1953, pp. 128-129, doi: 10.1210 / jcem-13-1-128 , PMID 13022759 .
  7. ^ EP McCullagh, JC Beck, CA Schaffenburg: A syndrome of eunuchoidism with spermatogenesis, normal urinary FSH and low or normal ICSH: (fertile eunuchs). In: The Journal of clinical endocrinology and metabolism. Vol. 13, No. 5, May 1953, pp. 489-509, doi: 10.1210 / jcem-13-5-489 , PMID 13061573 .

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