Sexual development and Fertility

A large number of different genetic alterations affect sexual development, maturation, hormone balance and fertility. Only a small portion of these are currently understood. We recognize even less about their interaction and combined impact on an individual's chance to conceive offspring either naturally or by techniques of assisted reproduction. However, there is an increasing number of Mendelian disorders diagnosed today, which are known to affect primary sexual development, puberty or family planning. Genetic testing of these respective genes can support the differential diagnosis and hormone treatment as well as your patient’s decision regarding the use of assisted reproduction.

We offer in our accredited laboratory:

  • pretest evaluation of your patients clinical information in order to develop an individual genetic testing strategy
  • diagnostic prenatal and postnatal genetic testing by Sanger sequencing as well as MLPA analysis
  • carrier testing
  • prenatal carrier testing in subsequent pregnancies  for disorders with clinical manifestation prior to adolescence.

All identified sequence alterations, relevant or potentially relevant for the clinical findings of your patient, are

  • confirmed by Sanger sequencing,
  • carefully assessed using our in house evaluation workflow including comparison with the human reference genome hg19, publically available and our own extensive mutation database as well as in silico prediction of functional consequences applying different algorithms,
  • rated and summarized in an individual medical report considering provided clinical data.

A further core focus of our laboratory is pre-implantation genetic diagnosis (PGD). In 2005 our laboratory was the first German laboratory to be selected as a full member of the ESHRE PGD consortium.  Since then, we have performed polar body diagnosis (PBD) for a wide spectrum of severe, early onset Mendelian disorders, as PBD still is the German legal alternative of PGD. In 2013 the German government approved new legal regulations allowing PGD for couples at high risk for severe and early onset genetic disorders. In our laboratory, we are preparing to offer PGD on embrionic cells and will be applying for a license as a PGD center, as soon as applications will be accepted by the Bavarian Ministry.

We offer genetic testing by Sanger sequencing and MLPA(+MLPA) for:

Disease Disease
Gene Gene

Reproductive Genetics

3-beta-hydroxysteroid dehydrogenase, type II, deficiency 201810 HSD3B2 613890 1p12
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 CYP11B1 610613 8q24.3
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (+MLPA) 201910 CYP21A2 613815 6p21.33
  300068 AR 313700 Xq12
CBAVD - Congenital bilateral absence of vas deferens (Innolipa) 277180 CFTR (36 Mutationen) 602421 7q31.2
Combined pituitary hormone deficiency 613986 OTX2 HPE
Cytochrom p450 Oxidoreductase Deficiency 613571 POR 124015 7q11.23
Kallmann syndrome 3 (+MLPA) 244200 ROKR2 607123 20p12.3
Kallmann syndrome 4 (+MLPA) 610628 PROK2 607002 3p13
Kallmann syndrome, autosomal-dominant (+MLPA) 147950 FGFR1 136350 8p11.23-p11.22
Kallmann syndrome, X-linked (+MLPA) 308700 KAL1 300836 Xp22.31
Leydig cell hypoplasia 238320 LHCGR 152790 2p16.3
Ovarian dysgenesis 1 233300 FSHR 136435 2p16.3
Ovarian hyperstimulation syndrome, gestational spontaneous 608115 FSHR 136435 2p16.3

Related Publications of our group


Hehr U, Gassner C: Genetische Diagnostik in der Sterilitätstherapie.Gynäkologe_2013 · 46:653–665

Hehr A, Paulmann B, Seifert B, Hehr U  Präimplantationsdiagnostik für monogen vererbte Erkrankungen Medizinische Genetik 12/2011; 4(23):469-478

Bals-Pratsch M, Hehr A, Seifert B, Hehr U Geburt nach Eizellvitrifikation und Polkörperdiagnostik für Mukoviszidose Geburtshilfe und Frauenheilkunde 01/2009; 6(69):541-544

Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazaurik ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T. Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med. 2008 Jun;21(6):705-14.

Manvelyan M, Schreyer I, Höls-Herpertz I, Köhler S, Niemann R, Hehr U, Belitz B, Bartels I, Götz J, Huhle D, Kossakiewicz M, Tittelbach H, Neubauer S, Polityko A, Mazauric ML, Wegner R, Stumm M, Küpferling P, Süss F, Kunze H, Weise A, Liehr T, Mrasek K. Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints. Int J Mol Med. 2007 Jun;19(6):855-64.

Hehr A, Bals-Pratsch M, Seifert B, Hehr U:  Präimplantationsdiagnostik und Polkörperdiagnostik / The current state of preimplantation genetic diagnosis and polar body diagnosis aboratoriumsmedizin-journal of Laboratory Medicine - Laboratoriumsmedizin. 01/2007; 31(4):186-192.

Bals-Pratsch M, Seifert B, Buchholz T, Hehr A, Hehr U Polkörperdiagnostik als Erfolg versprechende deutsche Alternative zur Präimplantationsdiagnostik Frauenheilkunde up2date 01/2007; 1(4):299-302.

Wieacker P, Gromoll J, Hehr U, Ludwig M Empfehlungen zur genetischen Diagnostik bei Aborten. J Reproduktionsmed Endokrinol 2005 2:148–150

Ludwig M, Gromoll J, Hehr U, Wieacker P Stellungnahme der Arbeitsgemeinschaft Reproduktionsgenetik der Deutschen Gesellschaft fur Reproduktionsmedizin: Empfehlung zur genetischen Diagnostik bei Kinderwunschpaaren. J Reproduktionsmed Endokrinol 2004 1:190–193